Epilepsy affects at least 6 million people in Europe. Traditional antiepileptic therapies help between 60% and 70% of those affected to remain seizure free. For patients suffering from refractory epilepsy, the clinical outlook is poor. Traditionally, epilepsy has been treated as a single disease, but these conditions are increasingly viewed as a group of rare and complex diseases. ORPHANET — the portal for rare diseases and orphan drugs — lists 137 disorders with epilepsy as the predominant symptom, however many patients remain undiagnosed and without access to treatment.

The network aims: to deliver full access and utilisation of pre-surgical evaluation and epilepsy surgery; to increase diagnosis of rare causes of the epilepsies; to enhance identification of patients with treatable rare causes of the epilepsies; to increase access to specialised care for rare causes; and to foster research on innovative causal treatments in rare and complex epilepsies.

EpiCARE builds on the work of the pilot ERN E-pilepsy which worked to increase awareness and accessibility of epilepsy surgery, for carefully selected individuals, that effectively used e-tools and multidisciplinary team discussion. The EpiCARE network, which includes active participants from patient organisations, seeks to increase the number of seizure free patients in Europe.


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Below an overview is given of scientific publications related to ERN EpiCARE. Publications were obtained from the PubMed database. All publications where one of the authors has an affiliation link where "ERN EpiCARE" is mentioned, are added to the publication overview automatically. Updates are performed once a week.

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TitleAuthorsDateKeywordsIssue name
Cognitive phenotypes in patients with drug-resistant temporal lobe epilepsy: Relationships with cortisol and affectivity.Cano-López I, Catalán-Aguilar J, Lozano-García A, Hidalgo V, Hampel KG, Tormos-Pons P, Salvador A, Villanueva V, González-Bono E2024-07-04Cognitive phenotypes, affectivity, cognition, cortisol, epilepsyThe Clinical neuropsychologist
Clinical benefit of botulinum toxin for treatment of persistent TMD-related myofascial pain: A randomized, placebo-controlled, cross-over trial.Sitnikova V, Kämppi A, Kämppi L, Alvesalo E, Burakova M, Kemppainen P, Teronen O2024-07-04botulinum toxin type A, myofascial pain, orofacial pain, temporomandibular disorderPain practice : the official journal of World Institute of Pain
The course of tumor-related epilepsy in glioblastoma patients: A retrospective analysis.Stritzelberger J, Gesmann A, Fuhrmann I, Uhl M, Brandner S, Welte TM, Schembs L, Dörfler A, Coras R, Adler W, Schwab S, Putz F, Fietkau R, Distel L, Hamer H2024-06-27Glioblastoma, Radiochemotherapy, Surgery, Tumor-related epilepsyEpilepsy & behavior : E&B
MicroRNA-mediated regulation of neurotransmitter receptors in epilepsy: A systematic review.Sonawane S, Všianský V, Brázdil M2024-06-25Epilepsy, Micro RNA, Neurotransmitter receptorsEpilepsy & behavior : E&B
Seizure Outcome After Intraoperative Electrocorticography-Tailored Epilepsy Surgery: A Systematic Review and Meta-Analysis.Guo J, Wang Z, van 't Klooster MA, Van Der Salm SM, Leijten FS, Braun KP, Zijlmans M2024-06-11Neurology
Epilepsy as a Novel Phenotype of BPTF-Related Disorders.Ferretti A, Furlan M, Glinton KE, Fenger CD, Boschann F, Amlie-Wolf L, Zeidler S, Moretti R, Stoltenburg C, Tarquinio DC, Furia F, Parisi P, Rubboli G, Devinsky O, Mignot C, Gripp KW, Møller RS, Yang Y, Stankiewicz P, Gardella E2024-06-11BPTF, Bromodomain PHD finger transcription factor gene, Childhood epilepsy, Genetic epilepsy, Microcephaly, NEDDFL, Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesPediatric neurology
The expanding clinical and genetic spectrum of DYNC1H1-related disorders.Möller B, Becker LL, Saffari A, Afenjar A, Coci EG, Williamson R, Ward-Melver C, Gibaud M, Sedláčková L, Laššuthová P, Libá Z, Vlčková M, William N, Klee EW, Gavrilova RH, Lévy J, Capri Y, Scavina M, Körner RW, Valuvullah Z, Weiß C, Möller GM, Thiel M, Sinnema M, Kamsteeg EJ, Donkervoort S, Duboc V, Zaafrane-Khachnaoui K, Elkhateeb N, Selim L, Margot H, Marin V, Beneteau C, Isidor B, Cogne B, Keren B, Küsters B, Beggs AH, Genetti CA, Nicolai J, Dötsch J, Koy A, Bönnemann CG, von der Hagen M, von Kleist-Retzow JC, Voermans N, Jungbluth H, Dafsari HS2024-06-08autophagy, intracellular trafficking, neurodevelopmental disorders, viral immunityBrain : a journal of neurology
Effectiveness and Safety of Adjunctive Cenobamate in People with Focal-Onset Epilepsy: Evidence from the First Interim Analysis of the BLESS Study.Lattanzi S, Ranzato F, Di Bonaventura C, Bonanni P, Gambardella A, Tartara E, Assenza G, Procaccini M, Falsetto N, Villano V, Camattari G, Ori A, Di Gennaro G2024-06-08Antiepileptic, Cenobamate, Effectiveness, Epilepsy, Focal seizure, Italian clinical practice, Observational, Real-world evidence, SafetyNeurology and therapy
Age-dependent increase of perineuronal nets in the human hippocampus and precocious aging in epilepsy.Lehner A, Hoffmann L, Rampp S, Coras R, Paulsen F, Frischknecht R, Hamer H, Walther K, Brandner S, Hofer W, Pieper T, Reisch LM, Bien CG, Blumcke I2024-06-07brain, extracellular matrix, hippocampal sclerosis, maturation, neuropathologyEpilepsia open
Socioeconomic differences in use of antiseizure medication in pregnancies with maternal epilepsy: A population-based study from Nordic universal health care systems.Leinonen MK, Igland J, Dreier JW, Alvestad S, Cohen JM, Gilhus NE, Gissler M, Sun Y, Tomson T, Zoega H, Vegrim HM, Christensen J, Bjørk MH2024-05-28access to care, antiepileptic drugs, disparities, pregnancy, socioeconomic factorsEpilepsia
Epilepsies with onset during the first year of life: A prospective study on syndromes, etiologies, and outcomes.Jonsson H, Gaily E, Stjerna S, Joensuu T, Johari M, Lehesjoki AE, Linnankivi T2024-05-24cognitive outcome, etiology, infantile epilepsy, structured neurological examination, treatment resistanceEpilepsia open
Risk factors for status epilepticus after brain disorders in adults: A multi-cohort national register study.Bjellvi J, Idegård A, Zelano J2024-05-23Epidemiology, Epilepsy, Status epilepticusEpilepsy & behavior : E&B
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.Silva DB, Trinidad M, Ljungdahl A, Revalde JL, Berguig GY, Wallace W, Patrick CS, Bomba L, Arkin M, Dong S, Estrada K, Hutchinson K, LeBowitz JH, Schlessinger A, Johannesen KM, Møller RS, Giacomini KM, Froelich S, Sanders SJ, Wuster A2024-05-21GABA uptake, GAT-1, GAT1, SLC6A1, autism spectrum disorders, epilepsy with myoclonic-atonic seizures, missense vulnerability, neurodevelopmental delayAmerican journal of human genetics
Epileptiform discharges in the anterior thalamus of epilepsy patients.Jordán Z, Szabó JP, Sákovics A, Kelemen A, Halász L, Erőss L, Fabó D2024-05-17Clinical finding, Health sciences, Medical testsiScience
Novel LAMC3 pathogenic variant enriched in Finnish population causes malformations of cortical development and severe epilepsy.Saarela A, Timonen O, Kirjavainen J, Liu Y, Silvennoinen K, Mervaala E, Kälviäinen R2024-05-17agyria (HPO 0031882), atonic seizure (HPO 0010819), atypical absence seizure (HPO 0007270), atypical absence status epilepticus (HPO 0011151), bilateral tonic–clonic seizure (HPO 0002069), epileptic spasm (HPO 0011097), focal‐onset seizure (HPO 0007359), pachygyria (HPO 0001302), polymicrogyria (HPO 0002126), tonic seizure (HPO 0032792)Epileptic disorders : international epilepsy journal with videotape
Transitioning from paediatric to adult care in epilepsy: A qualitative study of adolescent experiences.Goselink RJ, Eklund A, Olsson I, Hallböök T, Malmgren K, Reilly C2024-05-17Adolescence, Experiences, Transitional care, Young adultsSeizure
Pharmacokinetic Variability of Rufinamide and Stiripentol in Children with Refractory Epilepsy: A Retrospective Study of Therapeutic Drug Monitoring from the National Epilepsy Centers in Denmark and Norway.Heger K, Burns ML, Nikanorova M, Johannessen SI, Johannessen Landmark C2024-05-15Therapeutic drug monitoring
Prognostic Value of Complete Resection of the High-Frequency Oscillation Area in Intracranial EEG: A Systematic Review and Meta-Analysis.Wang Z, Guo J, van 't Klooster M, Hoogteijling S, Jacobs J, Zijlmans M2024-05-14Neurology
Quantitative EEG features during the first day correlate to clinical outcome in perinatal asphyxia.Tuiskula A, Pospelov AS, Nevalainen P, Montazeri S, Metsäranta M, Haataja L, Stevenson N, Tokariev A, Vanhatalo S2024-05-14Pediatric research
High frequency oscillations in human memory and cognition: a neurophysiological substrate of engrams?Kucewicz MT, Cimbalnik J, Garcia JSS, Brazdil M, Worrell GA2024-05-14cognition, intracranial EEG, local field potential, memory consolidation, network oscillations, sharp-wave ripplesBrain : a journal of neurology
Social cognition in idiopathic generalised epilepsies.Ogurcakova V, Kajsova M, Marusic P, Amlerova J2024-05-09Empathy, Facial Emotion Recognition, Generalised Epilepsies, Social Cognition, Theory of MindBehavioural brain research
Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex.Scheper M, Sørensen FNF, Ruffolo G, Gaeta A, Lissner LJ, Anink JJ, Korshunova I, Jansen FE, Riney K, van Hecke W, Mühlebner A, Khodosevich K, Schubert D, Palma E, Mills JD, Aronica E2024-05-07GABAergic interneurons, Ganglionic eminence, Immaturity, Somatostatin, snRNA-seqActa neuropathologica
Interhemispheric coherence of EEG rhythms in children: Maturation and differentiation in corpus callosum dysgenesis.Guillou J, Duprez J, Nabbout R, Kaminska A, Napuri S, Gomes C, Kuchenbuch M, Sauleau P2024-05-03Brain development, Childhood EEG, Corpus callosum dysgenesis, EEG background activity, Sleep spindlesNeurophysiologie clinique = Clinical neurophysiology
Predictors of Seizure Recurrence in Women With Idiopathic Generalized Epilepsy Who Switch From Valproate to Another Medication.Cerulli Irelli E, Cocchi E, Morano A, Gesche J, Caraballo RH, Lattanzi S, Strigaro G, Rosati E, Catania C, Ferlazzo E, Casciato S, Di Gennaro G, Pizzanelli C, Giuliano L, Viola V, Mostacci B, Pignatta P, Fortunato F, Pulitano P, Panzini C, Gambardella A, Atalar AÇ, Labate A, Operto FF, Giallonardo AT, Baykan BB, Beier CP, Di Bonaventura C2024-05-01Neurology
Caregiver perceptions of the impact of Dravet syndrome on the family, current supports and hopes and fears for the future: A qualitative study.Soto Jansson J, Bjurulf B, Dellenmark Blom M, Hallböök T, Reilly C2024-04-30Caregiver, Dravet Syndrome, Impact, SupportEpilepsy & behavior : E&B
Sex Differences in Adverse Effects of Antiseizure Medications in Adults with Epilepsy: A Systematic Review.Giuliano L, Durante V, Battaglia G, Gasparini S, Zambrelli E, Ermio C, La Neve A, Mostacci B2024-04-30CNS drugs
Placebo response in patients with Dravet syndrome: Post-hoc analysis of two clinical trials.Devinsky O, Hyland K, Loftus R, Nortvedt C, Nabbout R2024-04-26Dravet syndrome, Natural history, PlaceboEpilepsy & behavior : E&B
In vitro human cell culture models in a bench-to-bedside approach to epilepsy.Danačíková Š, Straka B, Daněk J, Kořínek V, Otáhal J2024-04-18drug‐resistant epilepsy, genetic testing, in vitro human cell culture, legal and ethical aspects, precision medicineEpilepsia open
Temporo-parieto-occipital disconnection (TPO) by robot-assisted magnetic resonance imaging-guided laser interstitial thermal therapy (MRIgLITT) for refractory epilepsy in a pediatric patient: Proof-of-principle case report and surgical nuances.Candela-Cantó S, Hinojosa J, Muchart J, Jou C, Palau L, Valera C, Flores C, Palacio-Navarro A, Climent MA, Pascual A, Gonzalez A, Culebras D, Alamar M, Becerra V, Aparicio J, Rumià J2024-04-17MRIgLITT, TPO, laser ablation, pediatric epilepsy surgery, posterior quadrant disconnection, temporo-parieto-occipital disconnectionWorld neurosurgery
Correction to: Implementation of a 7T Epilepsy Task Force consensus imaging protocol for routine presurgical epilepsy work-up: effect on diagnostic yield and lesion delineation.Hangel G, Kasprian G, Chambers S, Haider L, Lazen P, Koren J, Diehm R, Moser K, Tomschik M, Wais J, Winter F, Zeiser V, Gruber S, Aull-Watschinger S, Traub-Weidinger T, Baumgartner C, Feucht M, Dorfer C, Bogner W, Trattnig S, Pataraia E, Roessler K2024-04-05Journal of neurology
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.Mancuso M, Papadopoulou MT, Ng YS, Ardissone A, Bellusci M, Bertini E, Di Vito L, Evangelista T, Fons C, Hikmat O, Horvath R, Klopstock T, Kornblum C, Lamperti C, Licchetta L, Molnar MJ, Varhaug KN, O'Callaghan M, Pressler RM, Schiff M, Servidei S, Szabo N, Gorman GS, Cross JH, Rahman S2024-04-04consensus, epilepsy, management, mitochondrial diseases, recommendationsEuropean journal of neurology
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.Saracino A, Totaro M, Politano D, DE Giorgis V, Gana S, Papalia G, Pichiecchio A, Plumari M, Rognone E, Varesio C, Orcesi S2024-04-01Neuropediatrics
Interactions between antiseizure medications and foods and drinks: A systematic review.Asadi-Pooya AA, Johannessen Landmark C, Mirzaei Damabi N, Fazelian K2024-04-01epilepsy, food, pharmacokinetics, pharmacy, seizureEpilepsia open
Pharmacokinetic Variability of Sulthiame: The Impact of Age, Drug-Drug Interactions, and Biochemical Markers of Toxicity in Patients with Epilepsy.Heger K, Kjeldstadli K, Ring N, Aaberg KM, Kjeldsen SF, Burns ML, Johannessen SI, Johannessen Landmark C2024-04-01Therapeutic drug monitoring
Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE.Papadopoulou MT, Muccioli L, Bisulli F, Klotz KA, Fons C, Trivisano M, Kabulashvili T, Specchio N, Lesca G, Arzimanoglou A2024-03-22ERN EpiCARE centers, Whole Genome Sequencing, common practices in epilepsy genetic testing, disparities regarding genetic testing costs and availability, provision of epilepsy care, urgent genetic testingEpilepsia open
Adherence to ketogenic dietary therapies in epilepsy: A systematic review of literature.Lopes Neri LC, Guglielmetti M, Fiorini S, Pasca L, Zanaboni MP, de Giorgis V, Tagliabue A, Ferraris C2024-03-21Adherence, Compliance, Ketogenic diet, Ketosis, Systematic review, Treatment adherenceNutrition research (New York, N.Y.)
ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients.Córdoba NM, Lince-Rivera I, Gómez JLR, Rubboli G, De la Rosa SO2024-03-21ATP1A2, NMDA receptor antagonists, drug‐resistant epilepsy, encephalopathies, genetic epilepsyEpileptic disorders : international epilepsy journal with videotape
Understanding neurodevelopmental trajectories and behavioral profiles in SCN1A-related epilepsy syndromes.Postma A, Minderhoud CA, Otte WM, Jansen FE, Gunning WB, Verhoeven JS, Jongmans MJ, Zinkstok JR, Brilstra EH2024-03-20Behavioral difficulties, Comorbidities, Dravet syndrome, GEFS+, SCN1AEpilepsy & behavior : E&B
Ictal Bradycardia and Asystole in Sleep-Related Hypermotor Epilepsy: A Study of 200 Patients.Muccioli L, Bruschi G, Ferri L, Scarabello A, Taruffi L, Di Vito L, Mostacci B, Provini F, Calandra-Buonaura G, Tinuper P, Licchetta L, Bisulli F2024-03-19DEPDC5, GATOR1, MRI, SUDEP, arrhythmia, focal cortical dysplasia (FCD), genetics, heart, polygraphy, seizureJournal of clinical medicine
Modification of brain conductivity in human focal epilepsy: A model-based estimation from stereoelectroencephalography.Lagarde S, Modolo J, Yochum M, Carvallo A, Ballabeni A, Scavarda D, Carron R, Villeneuve N, Bartolomei F, Wendling F2024-03-16SEEG, conductivity, drug-resistant epilepsy, epilepsy surgery, focal epilepsy, stimulationEpilepsia
Clinical outcome prediction with an automated EEG trend, Brain State of the Newborn, after perinatal asphyxia.Montazeri S, Nevalainen P, Metsäranta M, Stevenson NJ, Vanhatalo S2024-03-15Brain monitoring, Deep learning, Neonatal intensive care unit, aEEG, neonatal EEGClinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Cross-frequency coupling in cortico-hippocampal networks supports the maintenance of sequential auditory information in short-term memory.Borderie A, Caclin A, Lachaux JP, Perrone-Bertollotti M, Hoyer RS, Kahane P, Catenoix H, Tillmann B, Albouy P2024-03-01PLoS biology
Pitfalls of using video-EEG for a trial endpoint in children aged <4 years with focal seizures.Bozorg A, Beller C, Jensen L, Arzimanoglou A, Chiron C, Dlugos D, Gaitanis J, Wheless JW, McClung C2024-03-01Annals of clinical and translational neurology
How Can a Focal Seizure Lead to a Dacrystic Behavior? A Case Analyzed with Functional Connectivity in Stereoelectroencephalography.Marx B, Medina-Villalon S, Bartolomei F, Lagarde S2024-03-01EEG, depth electrode, electroencephalogram (EEG), electroencephalography, emotion, epilepsy, focal seizure, seizures, semiology, synchronizationClinical EEG and neuroscience
Grading system for assessing the confidence in the epileptogenic zone reported in published studies: A Delphi consensus study.Ryvlin P, Barba C, Bartolomei F, Baumgartner C, Brazdil M, Fabo D, Fahoum F, Frauscher B, Ikeda A, Lhatoo S, Mani J, McGonigal A, Metsahonkala EL, Mindruta I, Nguyen DK, Rheims S, Rocamora R, Rydenhag B, Schuele S, Schulze-Bonhage A, Surges R, Vulliemoz S, Beniczky S2024-02-29Delphi, confidence, epilepsy surgery, epileptogenic zone, grading systemEpilepsia
L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study.Juliá-Palacios N, Olivella M, Sigatullina Bondarenko M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, Aguilera-Albesa S, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera I, Perez-Ordoñez M, Colomé R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal A, Alonso-Colmenero I, Illescas KS, Balsells-Mejía S, Mari-Vico R, Duffo Viñas M, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, L Muro V, Karall D, Zeiner F, Masnada S, Peterlongo I, Oyarzábal A, Santos-Gómez A, Altafaj X, García-Cazorla Á2024-02-21N-methyl-d-aspartate receptor, l-serine, developmental and epileptic encephalopathy, neurodevelopmental disorders, precision medicineBrain : a journal of neurology
Timing matters for accurate identification of the epileptogenic zone.Chybowski B, Klimes P, Cimbalnik J, Travnicek V, Nejedly P, Pail M, Peter-Derex L, Hall J, Dubeau F, Jurak P, Brazdil M, Frauscher B2024-02-18Epilepsy, Seizure, iEEGClinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Reduced long-term mortality after successful resective epilepsy surgery: a population-based study.Granthon C, Tranberg AE, Malmgren K, Strandberg MC, Kumlien E, Redfors P2024-02-14EPILEPSY, EPILEPSY, SURGERY, SUDDEN DEATHJournal of neurology, neurosurgery, and psychiatry
Real life retrospective study of cannabidiol therapy in alternating hemiplegia of childhood.Patel S, Maney K, Morris L, Papadopoulou MT, Prange L, Boggs A, Hunanyan A, Megvinov A, Vavassori R, Panagiotakaki E, Mikati MA2024-02-12AHC, Cannabidiol, Epilepsy, Movement disorderEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
The significance of very long half-life in the context of antiseizure medication withdrawal during long-term video-EEG monitoring.Hampel KG, Morata-Martínez C, Garcés-Sánchez M, Villanueva V2024-02-01Antiseizure medication, Half-life, Seizure, Tapering, Video-EEG monitoringSeizure
Diagnosis, epilepsy treatment and supports for neurodevelopment in children with Dravet Syndrome: Caregiver reported experiences and needs.Soto Jansson J, Bjurulf B, Dellenmark Blom M, Hallböök T, Reilly C2024-02-01Dravet Syndrome, Parents, Support, TreatmentEpilepsy & behavior : E&B
Impact of antiseizure medication with a very long half-life on long term video-EEG monitoring in focal epilepsy.Hampel KG, Morata-Martínez C, Garcés-Sánchez M, Villanueva V2024-02-01Antiseizure medication, Half-life, Patient safety, Tapering, Video-EEG monitoring, WithdrawalSeizure
Learn how to interpret and use intracranial EEG findings.Frauscher B, Mansilla D, Abdallah C, Astner-Rohracher A, Beniczky S, Brazdil M, Gnatkovsky V, Jacobs J, Kalamangalam G, Perucca P, Ryvlin P, Schuele S, Tao J, Wang Y, Zijlmans M, McGonigal A2024-02-01atlas, interictal epileptiform discharges, intracranial electroencephalography, low-voltage fast activity, pathology, prognosis, seizure-onset pattern, stereo-electroencephalographyEpileptic disorders : international epilepsy journal with videotape
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.Panagiotakaki E, Tiziano FD, Mikati MA, Vijfhuizen LS, Nicole S, Lesca G, Abiusi E, Novelli A, Di Pietro L, Harder AVE, Walley NM, De Grandis E, Poulat AL, Portes VD, Lépine A, Nassogne MC, Arzimanoglou A, Vavassori R, Koenderink J, Thompson CH, George AL, Gurrieri F, van den Maagdenberg AMJM, Heinzen EL2024-02-01European journal of human genetics : EJHG
Role of the glymphatic system and perivascular spaces as a potential biomarker for post-stroke epilepsy.Hlauschek G, Nicolo JP, Sinclair B, Law M, Yasuda CL, Cendes F, Lossius MI, Kwan P, Vivash L2024-02-01blood-brain barrier, glymphatic system, neuroinflammation, perivascular spaces, post-stroke epilepsyEpilepsia open
Prospective study of cenobamate on cognition, affectivity, and quality of life in focal epilepsy.Catalán-Aguilar J, Hampel KG, Cano-López I, Garcés M, Lozano-García A, Tormos-Pons P, González-Bono E, Villanueva V2024-02-01cenobamate, cognition, drug-resistant epilepsy, negative affectivity, quality of lifeEpilepsia open
Metabolic connectivity as a predictor of surgical outcome in mesial temporal lobe epilepsy.Strýček O, Říha P, Kojan M, Řehák Z, Brázdil M2024-02-01mesial temporal lobe epilepsy, metabolic connectivity, positron emission tomographyEpilepsia open
Fifteen years of real-world data on the use of vigabatrin in individuals with infantile epileptic spasms syndrome.Kuchenbuch M, Lo Barco T, Chemaly N, Chiron C, Nabbout R2024-02-01West syndrome, infantile spasms relapse, long-term outcome, steroidsEpilepsia
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.Mancuso M, Lopriore P, Lamperti C, Klopstock T, Rahman S, Licchetta L, Kornblum C, Wortmann SB, Dollfus H, Papadopoulou MT, Arzimanoglou A, Scarpa M, Graessner H, Evangelista T2024-02-01Europe, European Reference Networks, Mitochondrial diseases, Rare diseases, SurveyJournal of neurology
Implementation of a 7T Epilepsy Task Force consensus imaging protocol for routine presurgical epilepsy work-up: effect on diagnostic yield and lesion delineation.Hangel G, Kasprian G, Chambers S, Haider L, Lazen P, Koren J, Diehm R, Moser K, Tomschik M, Wais J, Winter F, Zeiser V, Gruber S, Aull-Watschinger S, Traub-Weidinger T, Baumgartner C, Feucht M, Dorfer C, Bogner W, Trattnig S, Pataraia E, Roessler K2024-02-017 T Epilepsy Task Force consensus recommendation, 7 T MRI, Epilepsy, Ultra-high-fieldJournal of neurology
Eslicarbazepine-induced hyponatremia: A retrospective single-center real clinical practice study.Strýček O, Všianský V, Doležalová I, Kočvarová J, Pail M, Brázdil M2024-02-01eslicarbazepine, hyponatremia, risk factorEpilepsia open
A European pilot study in Dravet Syndrome to delineate what really matters for the patients and families.Chemaly N, Kuchenbuch M, Teng T, Marie E, D'Onofrio G, Lo Barco T, Brambilla I, Flege S, Hallet AS, Nabbout R2024-02-01PCOMs, burden of the disease, families’ expectations, meaningful change, meaningful outcomesEpilepsia open
Refractory tonic-myoclonic status epilepticus with catamenial recurrence in epilepsy with myoclonic atonic seizures: A case report.Proietti J, Fiorini E, Cantalupo G, Fontana E, Lo Barco T, Bonin C, Bernardina BD, Darra F2024-01-30Catamenial, Doose syndrome, Epilepsy with myoclonic-atonic seizures, Post-puberal age, Progestin, Status epilepticusHeliyon
Multiomic analysis implicates nuclear hormone receptor signalling in clustering Nys R, van Eyk CL, Ritchie T, Møller RS, Scheffer IE, Marini C, Bhattacharjee R, Kumar R, Gecz J2024-01-27Translational psychiatry
Molecular and Phenotypic Characterization of the RORB-Related Disorder.Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G2024-01-23Neurology
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.Cavirani B, Spagnoli C, Caraffi SG, Cavalli A, Cesaroni CA, Cutillo G, De Giorgis V, Frattini D, Marchetti GB, Masnada S, Peron A, Rizzi S, Varesio C, Spaccini L, Vignoli A, Canevini MP, Veggiotti P, Garavelli L, Fusco C2024-01-19behaviour, developmental and epileptic encephalopathies, developmental delay, drugresistance, epilepsy, genetics, intellectual disability, neurodevelopmental disorders, outcomeInternational journal of molecular sciences
Case report: Insulinoma masquerades as epilepsy - quantitative EEG analysis.Kostolanska N, Klimes P, Kocvarova J, Pikulova H, Strycek O, Brazdil M, Dolezalova I2024-01-01EEG postprocessing, acute symptomatic seizures, epilepsy, hypoglycemia, insulinomaFrontiers in neurology
Weak coupling of neurons enables very high-frequency and ultra-fast oscillations through the interplay of synchronized phase shifts.Přibylová L, Ševčík J, Eclerová V, Klimeš P, Brázdil M, Meijer HGE2024-01-01Bifurcations, Epilepsy, Neuronal network model, Phase-shift synchrony, Ultra-fast oscillations, Very high-frequency oscillationsNetwork neuroscience (Cambridge, Mass.)
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.Ribeiro-Constante J, Tristán-Noguero A, Martínez Calvo FF, Ibañez-Mico S, Peña Segura JL, Ramos-Fernández JM, Moyano Chicano MDC, Camino León R, Soto Insuga V, González Alguacil E, Valera Dávila C, Fernández-Jaén A, Plans L, Camacho A, Visa-Reñé N, Martin-Tamayo Blázquez MDP, Paredes-Carmona F, Marti-Carrera I, Hernández-Fabián A, Tomas Davi M, Sanchez MC, Herraiz LC, Pita PF, Gonzalez TB, O'Callaghan M, Iglesias Santa Polonia FF, Cazorla MR, Ferrando Lucas MT, González-Meneses A, Sala-Coromina J, Macaya A, Lasa-Aranzasti A, Cueto-González AM, Valera Párraga F, Campistol Plana J, Serrano M, Alonso X, Del Castillo-Berges D, Schwartz-Palleja M, Illescas S, Ramírez Camacho A, Sans Capdevila O, García-Cazorla A, Bayés À, Alonso-Colmenero I2024-01-01EEG, SYNGAP1, autism spectrum disorder, developmental and epileptic encephalopathy, diffuse fast activity, disorganized background activity, interictal epileptiform discharges, rare diseaseFrontiers in cell and developmental biology
Proceedings of the "International Congress on Structural Epilepsy & Symptomatic Seizures" (STESS, Gothenburg, Sweden, 29-31 March 2023).Brigo F, Zelano J, Abraira L, Bentes C, Ekdahl CT, Lattanzi S, Ingvar Lossius M, Redfors P, Rouhl RPW, Russo E, Sander JW, Vogrig A, Wickström R2024-01-01Acute symptomatic seizure, Diagnosis, Prognosis, Structural epilepsy, TreatmentEpilepsy & behavior : E&B
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.Sedlackova L, Sterbova K, Vlckova M, Seeman P, Zarubova J, Marusic P, Krsek P, Krijtova H, Musilova A, Lassuthova P2024-01-01Developmental and epileptic encephalopathies (DEE), Exome sequencing, Gene panelEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Development of an online calculator for the prediction of seizure freedom following pediatric hemispherectomy using the Hemispherectomy Outcome Prediction Scale (HOPS).Weil AG, Dimentberg E, Lewis E, Ibrahim GM, Kola O, Tseng CH, Chen JS, Lin KM, Cai LX, Liu QZ, Lin JL, Zhou WJ, Mathern GW, Smyth MD, O'Neill BR, Dudley R, Ragheb J, Bhatia S, Delev D, Ramantani G, Zentner J, Wang AC, Dorfer C, Feucht M, Czech T, Bollo RJ, Issabekov G, Zhu H, Connolly M, Steinbok P, Zhang JG, Zhang K, Hidalgo ET, Weiner HL, Wong-Kisiel L, Lapalme-Remis S, Tripathi M, Sarat Chandra P, Hader W, Wang FP, Yao Y, Champagne PO, Brunette-Clément T, Guo Q, Li SC, Budke M, Pérez-Jiménez MA, Raftopoulos C, Finet P, Michel P, Schaller K, Stienen MN, Baro V, Cantillano Malone C, Pociecha J, Chamorro N, Muro VL, von Lehe M, Vieker S, Oluigbo C, Gaillard WD, Al Khateeb M, Al Otaibi F, Krayenbühl N, Bolton J, Pearl PL, Fallah A2024-01-01hemispherectomy, hemispherotomy, online calculator, seizure outcomesEpilepsia
Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies.Domínguez Carral J, Reinhard C, Ebrahimi-Fakhari D, Dorison N, Galosi S, Garone G, Malenica M, Ravelli C, Serdaroglu E, van de Pol LA, Koy A, Leuzzi V, Roubertie A, Lin JP, Doummar D, Cif L, Ortigoza-Escobar JD2024-01-01GNAO1, deep brain stimulation, dyskinetic crisis, dystonia, movement disordersFrontiers in neurology
Therapeutic strategies during cenobamate treatment initiation: Delphi panel recommendations.Steinhoff BJ, Ben-Menachem E, Klein P, Peltola J, Schmitz B, Thomas RH, Villanueva V2024-01-01Delphi panel, cenobamate, drug–drug interactions, epileptologist, focal epilepsy, titrationTherapeutic advances in neurological disorders
Networks of cortical activity show graded responses to perinatal asphyxia.Syvälahti T, Tuiskula A, Nevalainen P, Metsäranta M, Haataja L, Vanhatalo S, Tokariev A2023-12-22Pediatric research
Do all individuals with Dravet syndrome have intellectual disability?Reilly C, Bjurulf B, Hallböök T2023-12-14Epilepsia
Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice.Cockerell I, Christensen J, Hoei-Hansen CE, Holst L, Grenaa Frederiksen M, Issa-Epe AI, Nedregaard B, Solhoff R, Heimdal K, Johannessen Landmark C, Lund C, Nærland T2023-12-02Adverse events, Epilepsy, Everolimus, Renal angiomyolipoma, Sirolimus, Subependymal giant cell astrocytoma, Tuberous sclerosis complex, mTOR inhibitorOrphanet journal of rare diseases
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.Lyu H, Boßelmann CM, Johannesen KM, Koko M, Ortigoza-Escobar JD, Aguilera-Albesa S, Garcia-Navas Núñez D, Linnankivi T, Gaily E, van Ruiten HJA, Richardson R, Betzler C, Horvath G, Brilstra E, Geerdink N, Orsucci D, Tessa A, Gardella E, Fleszar Z, Schöls L, Lerche H, Møller RS, Liu Y2023-12-01Chronic ataxia, Episodic ataxia, Loss-of-function, Patch-clamp, SCN8AEBioMedicine
Detecting negative myoclonus during long-term home measurements using wearables.Sinokki A, Säisänen L, Hyppönen J, Silvennoinen K, Kälviäinen R, Mervaala E, Karjalainen PA, Rissanen SM2023-12-01EPM1, Home monitoring, Progressive myoclonus epilepsy type 1, Silent period, Surface electromyography (EMG), Unverricht-Lundborg diseaseClinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Generation of a human induced pluripotent stem cell line (UEFi004-A) from a patient with progressive myoclonic epilepsy type 1 (EPM1).Singh S, Plotnikova L, Karvonen K, Ryytty S, Hyppönen J, Kälviäinen R, Hämäläinen RH2023-12-01CystatinB, EPM1, Epilepsy, Unverricht-Lundborg diseaseStem cell research
Myoclonus in genetic Alzheimer's disease due to presenilin-1 mutation.Uccellini D, Canafoglia L, Franceschetti S, Stabile A, Catania M, Tagliavini F, Giaccone G, Di Fede G2023-12-01Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Cenobamate in refractory epilepsy: Overview of treatment options and practical considerations.Schmitz B, Lattanzi S, Vonck K, Kälviäinen R, Nashef L, Ben-Menachem E2023-12-01anti-seizure medications, cenobamate, drug resistant epilepsy, epilepsy polytherapy, epilepsy surgery, ketogenic diet, neurostimulationEpilepsia open
Clinical and economic implications of epilepsy management across treatment lines in Spain: a real-life database analysis.Toledano R, Villanueva V, Toledo M, Sabaniego J, Pérez-Domper P2023-12-01Antiseizure medications, Drug-resistant epilepsy, Healthcare resources, Real-life data, Treatment lineJournal of neurology
Deep-learning predicted PET can be subtracted from the true clinical fluorodeoxyglucose PET co-registered to MRI to identify the epileptogenic zone in focal epilepsy.Flaus A, Jung J, Ostrowky-Coste K, Rheims S, Guénot M, Bouvard S, Janier M, Yaakub SN, Lartizien C, Costes N, Hammers A2023-12-01anomaly detection, artificial intelligence, computer-aided diagnosis, epilepsy, generative adversarial network, nuclear medicineEpilepsia open
Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events.Heyne HO, Pajuste FD, Wanner J, Onwuchekwa JID, Mägi R, Palotie A, Kälviainen R, Daly MJ2023-11-27medRxiv : the preprint server for health sciences
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years.Huschner F, Głowacka-Walas J, Mills JD, Klonowska K, Lasseter K, Asara JM, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Petrák B, van Scheppingen J, Zamecnik J, Iyer A, Anink JJ, Mühlebner A, Mijnsbergen C, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Blazejczyk M, Jansen FE, Janson S, Urbanska M, Tempes A, Janssen B, Sijko K, Wojdan K, Jozwiak S, Kotulska K, Lehmann K, Aronica E, Jaworski J, Kwiatkowski DJ2023-11-23Nature communications
Impact of Polytherapy on Memory Functioning in Patients With Drug-Resistant Epilepsy: The Role of Attention and Executive Functions.Lozano-García A, Catalán-Aguilar J, Tormos-Pons P, Hampel KG, Villanueva V, Cano-López I, González-Bono E2023-11-20Anti-seizure medications, Attention, Epilepsy, Executive functions, Memory, SurgeryArchives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists
Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb.Honke J, Hoffmann L, Coras R, Kobow K, Leu C, Pieper T, Hartlieb T, Bien CG, Woermann F, Cloppenborg T, Kalbhenn T, Gaballa A, Hamer H, Brandner S, Rössler K, Dörfler A, Rampp S, Lemke JR, Baldassari S, Baulac S, Lal D, Nürnberg P, Blümcke I2023-11-09Acta neuropathologica communications
Interictal invasive very high-frequency oscillations in resting awake state and sleep.Revajová K, Trávníček V, Jurák P, Vašíčková Z, Halámek J, Klimeš P, Cimbálník J, Brázdil M, Pail M2023-11-06Scientific reports
Genetic testing in children enrolled in epilepsy surgery program. A real-life study.Straka B, Splitkova B, Vlckova M, Tesner P, Rezacova H, Krskova L, Koblizek M, Kyncl M, Maulisova A, Bukacova K, Uhrova-Meszarosova A, Musilova A, Kudr M, Ebel M, Belohlavkova A, Jahodova A, Liby P, Tichy M, Jezdik P, Zamecnik J, Aronica E, Krsek P2023-11-01Focal drug-resistant epilepsy, Genetic testing, Malformations of cortical development, Paediatric epilepsy surgery, mTOREuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Adverse life events in patients with functional seizures: Assessment in clinical practice and association with long-term outcome.Villagrán A, Lund C, Duncan R, Ingvar Lossius M2023-11-01Dissociative seizures, Functional seizures, Traumatic live eventsEpilepsy & behavior : E&B
A multidisciplinary approach to posterior quadrant disconnective epilepsy surgery in pediatric patients.Limpo H, Candela-Cantó S, Asensio S, Palacio-Navarro A, Aparicio J, Climent Perin A, Hinojosa J, Rumià J2023-11-01Drug-resistant epilepsy, Pediatric epilepsy, Posterior quadrantic epilepsy, Temporoparietooccipital disconnectionNeuro-Chirurgie
Status epilepticus in patients with glioblastoma: Clinical characteristics, risk factors, and epileptological outcome.Stritzelberger J, Gesmann A, Fuhrmann I, Balk S, Reindl C, Madžar D, Uhl M, Welte TM, Brandner S, Eisenhut F, Dörfler A, Coras R, Adler W, Schwab S, Putz F, Fietkau R, Distel L, Hamer HM2023-11-01Glioblastoma, Status epilepticus, Status epilepticus severity score (STESS)Seizure
Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy.Specchio N, Nabbout R, Aronica E, Auvin S, Benvenuto A, de Palma L, Feucht M, Jansen F, Kotulska K, Sarnat H, Lagae L, Jozwiak S, Curatolo P2023-11-01Developmental and epileptic encephalopathies, Drug resistant epilepsy, Epileptogenesis, Everolimus, Neurodevelopmental disorders, Pre-symptomatic treatmentEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Electrical Source Imaging of Somatosensory Evoked Potentials from Intracranial EEG Signals.Kalina A, Jezdik P, Fabera P, Marusic P, Hammer J2023-11-01Electrical source localization (ESL), High-density EEG (HD-EEG), Intracranial EEG (iEEG), Inverse problem, Somatosensory evoked potential (SEP,  SSEP), Stereo-EEG (SEEG)Brain topography
Technical Note: Advantages of a 2-Room Intraoperative 3-Tesla Magnetic Resonance Imaging Operating Suite for Performing Laser Interstitial Thermal Therapy in Pediatric Epilepsy and Tumor Surgery.Tomschik M, Herta J, Wais J, Winter F, Hangel G, Kasprian G, Feucht M, Dorfer C, Roessler K2023-11-01Intraoperative MRI, Laser interstitial thermal therapy, Pediatric epilepsy surgery, Pediatric tumor neurosurgeryWorld neurosurgery
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.Harris RV, Oliver KL, Perucca P, Striano P, Labate A, Riva A, Grinton BE, Reid J, Hutton J, Todaro M, O'Brien TJ, Kwan P, Sadleir LG, Mullen SA, Dazzo E, Crompton DE, Scheffer IE, Bahlo M, Nobile C, Gambardella A, Berkovic SF2023-11-01Annals of neurology
Safety, tolerability, and efficacy of adjunctive lacosamide in pediatric patients with epilepsy syndromes associated with generalized seizures: Phase 2, open-label exploratory trial.Auvin S, Arzimanoglou A, Beller C, Floricel F, Daniels T, Bozorg A2023-11-01Lennox-Gastaut syndrome, antiseizure medication, clinical trial, electroencephalogram, generalized spike and wave complexes, pediatric epilepsyEpilepsia
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.Rosti G, Boeri S, Divizia MT, Pisciotta L, Mancardi MM, Lerone M, Cerminara M, Servetti M, Spirito G, Vozzi D, Fontana M, Gustincich S, Nobili L, Zara F, Puliti A2023-10-01Adult patient, Dysmorphic facial features, Epilepsy, Neurodevelopmental disorder, Rare disorder, SYNGAP1, Whole-exome sequencingMolecular syndromology
Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease.Patel SH, Panagiotakaki E, Papadopoulou MT, Fons C, De Grandis E, Vezyroglou A, Balestrini S, Hong H, Liu B, Prange L, Arzimanoglou A, Vavassori R, Mikati MA2023-10-01children, developmental disability, disability, epidemiology, genetics, neurodevelopment, outcome, risk factorsJournal of child neurology
Patients' long-term perspectives on gains and losses after temporal lobe resection for epilepsy.Kyte EB, Holth Skogan A, Bjøråsen Baklid Å, Malmgren K, Ozanne A, Alfstad KÅ2023-10-01Cognition, Epilepsy surgery, Long-term outcome, Patient experience, Qualitative method, Temporal lobe resectionEpilepsy & behavior : E&B
Real-life evidence about the use of intravenous brivaracetam in urgent seizures: The BRIV-IV study.Villanueva V, Rodriguez-Osorio X, Juiz-Fernández Á, Sayas D, Hampel K, Castillo A, Montoya J, Garcés M, Campos D, Rubio-Nazábal E, Fernández-Cabrera A, Gifreu A, Santamarina E, Hernández Pérez G, Falip M, Parejo-Carbonell B, García-Morales I, Martínez AB, Massot M, Asensio M, Giménez J, Guillén V, Ruiz-Giménez J, Chavarria B, Rocamora R, Escalza I2023-10-01Brivaracetam, Emergency setting, Intravenous, Real-life evidence, Urgent seizuresEpilepsy & behavior : E&B
Challenging anesthesia of the patient on ketogenic diet therapy scheduled for scoliosis surgery under motor evoked potentials monitoring: a case report.Hudec J, Kosinova M, Horak O, Repko M, Gal R2023-10-01Case report, Midazolam, Motor evoked potentials, Remifentanil, Total intravenous anesthesiaJournal of anesthesia
Trends in the neurological emergency room, focusing on persons with seizures.Welte TM, Ernst S, Stritzelberger J, Gollwitzer S, Lang JD, Reindl C, Sprügel MI, Olmes D, Schwab S, Blinzler C, Hamer HM2023-10-01epilepsy, headache, neurological emergency room, seizures, strokeEuropean journal of neurology
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.Schlüter A, Vélez-Santamaría V, Verdura E, Rodríguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Martínez JJ, Homedes-Pedret C, Albertí-Aguiló MA, Zulaika M, Martí I, Troncoso M, Tomás-Vila M, Bullich G, García-Pérez MA, Sobrido-Gómez MJ, López-Laso E, Fons C, Del Toro M, Macaya A, Beltran S, Gutiérrez-Solana LG, Pérez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A2023-09-07Algorithm, Candidate gene, Cerebellar ataxia, HPOs, Hereditary spastic paraplegia, Interactome, Variant prioritization, WES/WGSGenome medicine
Teaching Video NeuroImage: Reflex Seizures Mimicking Paroxysmal Dystonic Movements in a Patient With Late-Onset Rasmussen Encephalitis.Stabile A, Franceschetti S, Deleo F, Di Giacomo R, Didato G, Pastori C, Panzica F, De Curtis M, Villani F, Canafoglia L2023-09-05Neurology
Effect of Oxygen Administration on Paroxysmal Motor Events in Alternating Hemiplegia of Childhood.Papadopoulou MT, Welniarz Q, Roubertie A, Gras D, Milh M, Panagiotakaki E, Roze E2023-09-01ATP1A3 gene, acute treatment, dystonic attacks, encephalopathy, neurodevelopmental, plegic attacksMovement disorders : official journal of the Movement Disorder Society
An international survey of SEEG cortical stimulation practices.Cockle E, Rayner G, Malpas C, Alpitsis R, Rheims S, O'Brien TJ, Neal A2023-09-01direct cortical stimulation, epilepsy, mapping, stereo-EEGEpilepsia open
A novel approach to automatic seizure detection using computer vision and independent component analysis.Garção VM, Abreu M, Peralta AR, Bentes C, Fred A, P da Silva H2023-09-01epilepsy, machine learning, signal processing, video monitoringEpilepsia
Twenty-five years of epilepsy surgery at a Central European comprehensive epilepsy center-Trends in intervention delay and outcomes.Všianský V, Brázdil M, Rektor I, Doležalová I, Kočvarová J, Strýček O, Hemza J, Chrastina J, Brichtová E, Horák O, Mužlayová P, Hermanová M, Hendrych M, Pail M2023-09-01drug-resistant epilepsy, drug-resistant epilepsy epidemiology, drug-resistant epilepsy surgeryEpilepsia open
Decreased serum concentrations of antiseizure medications in children with drug resistant epilepsy following treatment with ketogenic diet.Pedersen S, Kverneland M, Rudi K, Gervin K, Landmark CJ, Iversen PO, Selmer KK2023-09-01antiseizure medications, dietary treatment, food-drug interactions, high-fat, low-carbohydrate diet, therapeutic drug monitoringEpilepsia open
GABRA1-Related Disorders: From Genetic to Functional Pathways.Musto E, Liao VWY, Johannesen KM, Fenger CD, Lederer D, Kothur K, Fisk K, Bennetts B, Vrielynck P, Delaby D, Ceulemans B, Weckhuysen S, Sparber P, Bouman A, Ardern-Holmes S, Troedson C, Battaglia DI, Goel H, Feyma T, Bakhtiari S, Tjoa L, Boxill M, Demina N, Shchagina O, Dadali E, Kruer M, Cantalupo G, Contaldo I, Polster T, Isidor B, Bova SM, Fazeli W, Wouters L, Miranda MJ, Darra F, Pede E, Le Duc D, Jamra RA, Küry S, Proietti J, McSweeney N, Brokamp E, Andrews PI, Gouray Garcia M, Chebib M, Møller RS, Ahring PK, Gardella E2023-08-22Annals of neurology
Retrospective chart review study of use of cannabidiol (CBD) independent of concomitant clobazam use in patients with Lennox-Gastaut syndrome or Dravet syndrome.Nabbout R, Arzimanoglou A, Auvin S, Berquin P, Desurkar A, Fuller D, Nortvedt C, Pulitano P, Rosati A, Soto V, Villanueva V, Cross JH2023-08-01Cannabidiol, Clobazam, Dravet syndrome, Lennox-Gastaut syndrome, Real-world evidence, SeizureSeizure
Pharmacological aspects of antiseizure medications: From basic mechanisms to clinical considerations of drug interactions and use of therapeutic drug monitoring.Johannessen Landmark C, Eyal S, Burns ML, Franco V, Johannessen SI2023-08-01analytical methods, antiepileptic drugs, epilepsy, interations, pharmacokinetic variabilityEpileptic disorders : international epilepsy journal with videotape
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.Rossi A, Blok LS, Neuser S, Klöckner C, Platzer K, Faivre LO, Weigand H, Dentici ML, Tartaglia M, Niceta M, Alfieri P, Srivastava S, Coulter D, Smith L, Vinorum K, Cappuccio G, Brunetti-Pierri N, Torun D, Arslan M, Lauridsen MF, Murch O, Irving R, Lynch SA, Mehta SG, Carmichael J, Zonneveld-Huijssoon E, de Vries B, Kleefstra T, Johannesen KM, Westphall IT, Hughes SS, Smithson S, Evans J, Dudding-Byth T, Simon M, van Binsbergen E, Herkert JC, Beunders G, Oppermann H, Bakal M, Møller RS, Rubboli G, Bayat A2023-08-01POU3F3, autism, cupped ears, epilepsy, neurodevelopmental disorderClinical genetics
The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.Paliotti K, Dassi C, Berrahmoune S, Bejaran ML, Davila CEV, Martinez AB, Estupiñà MCF, Mancardi MM, Riva A, Giacomini T, Severino M, Romaniello R, Dubeau F, Srour M, Myers KA2023-08-01Epilepsy, Genetic aetiology, Grey matter heterotopia, Periventricular nodular heterotopiaJournal of neurology
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.Gardella E, Michelucci R, Christensen HM, Fenger CD, Reale C, Riguzzi P, Pasini E, Albini-Riccioli L, Papa V, Foschini MP, Cenacchi G, Furia F, Marjanovic D, Hammer TB, Møller RS, Rubboli G2023-08-01IRF2BPL, ataxia, cerebellar signs, neurodevelopmental disorder, progressive myoclonus epilepsyEpilepsia
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.Cioclu MC, Mosca I, Ambrosino P, Puzo D, Bayat A, Wortmann SB, Koch J, Strehlow V, Shirai K, Matsumoto N, Sanders SJ, Michaud V, Legendre M, Riva A, Striano P, Muhle H, Pendziwiat M, Lesca G, Mangano GD, Nardello R, Lemke JR, Møller RS, Soldovieri MV, Rubboli G, Taglialatela M2023-08-01Annals of neurology
Progesterone and its derivatives for the treatment of catamenial epilepsy: A systematic review.Nucera B, Rinaldi F, Dono F, Lanzone J, Evangelista G, Consoli S, Tappatà M, Narducci F, Troisi S, Trinka E, Brigo F2023-07-01Catamenial epilepsy, Efficacy, Hormonal treatment, Progesterone, Therapy, Women with epilepsySeizure
Time-dependent risk factors for epileptic seizures in glioblastoma patients: A retrospective analysis of 520 cases.Stritzelberger J, Gesmann A, Fuhrmann I, Brandner S, Welte TM, Balk S, Eisenhut F, Dörfler A, Coras R, Adler W, Schwab S, Putz F, Fietkau R, Distel L, Hamer H2023-07-01glioblastoma, radiochemotherapy, seizures, surgeryEpilepsia
Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy.Casas-Alba D, Aguilar A, Alonso I, García MT, Cilio MR, Fons C2023-07-01Developmental and epileptic encephalopathy, Gross Motor Function Classification System, KCNQ2, Self-limited (familial) neonatal epilepsy, Vineland Adaptive Behavior ScalesPediatric neurology
Genetic algorithm designed for optimization of neural network architectures for intracranial EEG recordings analysis.Pijackova K, Nejedly P, Kremen V, Plesinger F, Mivalt F, Lepkova K, Pail M, Jurak P, Worrell G, Brazdil M, Klimes P2023-06-16deep learning, genetic algorithms, intracranial EEG, neural network, optimizationJournal of neural engineering
Towards optimised extracellular vesicle proteomics from cerebrospinal fluid.Kangas P, Nyman TA, Metsähonkala L, Burns C, Tempest R, Williams T, Karttunen J, Jokinen TS2023-06-12Scientific reports
Correction to: Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes.Hoffmann L, Coras R, Kobow K, López-Rivera JA, Lal D, Leu C, Najm I, Nürnberg P, Herms J, Harter PN, Bien CG, Kalbhenn T, Müller M, Pieper T, Hartlieb T, Kudernatsch M, Hamer H, Brandner S, Rössler K, Blümcke I, Jabari S2023-06-01Acta neuropathologica
Cannabidiol in the acute phase of febrile infection-related epilepsy syndrome (FIRES).Fetta A, Crotti E, Campostrini E, Bergonzini L, Cesaroni CA, Conti F, Di Pisa V, Gentile V, Mondardini MC, Vezzoli C, Giordano L, Cordelli DM2023-06-01CBD, cytokine, neuroinflammation, status epilepticusEpilepsia open
Familial adult myoclonus epilepsy: Clinical findings, disease course, and comorbidities.Giraldez BG, Serratosa JM, Striano S, Ikeda A, Striano P, Coppola A2023-06-01BAFME, FAME, autosomal dominant, cortical tremor, myoclonic tremor, myoclonusEpilepsia
Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes.Hoffmann L, Coras R, Kobow K, López-Rivera JA, Lal D, Leu C, Najm I, Nürnberg P, Herms J, Harter PN, Bien CG, Kalbhenn T, Müller M, Pieper T, Hartlieb T, Kudernatsch M, Hamer H, Brandner S, Rössler K, Blümcke I, Jabari S2023-06-01Brain, DNA methylation, Epilepsy, Seizure, Summary plotsActa neuropathologica
A registry for Dravet syndrome: The Italian experience.Balestrini S, Doccini V, Giometto S, Lucenteforte E, De Masi S, Giarola E, Brambilla I, Pieroni F, Perulli M, Battaglia D, Specchio N, Ragona F, Granata T, Pellacani S, Ferrari A, Marini C, Matricardi S, Cesaroni E, Giordano L, Accorsi P, Sciruicchio V, Tinuper P, Messana T, Russo A, Pruna D, Nosadini M, De Giorgis V, Caputo D, Pellegrin S, Lo Barco T, Darra F, Dalla Bernardina B, Guerrini R2023-06-01SCN1A, epilepsy syndrome, natural history, rare disease, registryEpilepsia open
Antiseizure medication withdrawal risk estimation and recommendations: A survey of American Academy of Neurology and EpiCARE members.Terman SW, van Griethuysen R, Rheaume CE, Slinger G, Haque AS, Smith SN, Kerr WT, van Asch C, Otte WM, Ferreira-Atuesta C, Galovic M, Burke JF, Braun KPJ2023-06-01antiseizure medications, discontinuation, epilepsy, surveyEpilepsia open
Frequency of and factors associated with antiseizure medication discontinuation discussions and decisions in patients with epilepsy: A multicenter retrospective chart review.Terman SW, Slinger G, Koek A, Skvarce J, Springer MV, Ziobro JM, Burke JF, Otte WM, Thijs RD, Braun KPJ2023-06-01antiseizure medication, decision-making, drug withdrawal, epilepsyEpilepsia open
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force.Nabbout R, Zanello G, Baker D, Black L, Brambilla I, Buske OJ, Conklin LS, Davies EH, Julkowska D, Kim Y, Klopstock T, Nakamura H, Nielsen KG, Pariser AR, Pastor JC, Scarpa M, Smith M, Taruscio D, Groft S2023-05-09Clinical research networks, Diagnosis, IRDiRC, Interoperability, Patient unmet needs, Rare diseases, TherapiesOrphanet journal of rare diseases
Author Correction: Respiratory brain impulse propagation in focal epilepsy.Elabasy A, Suhonen M, Rajna Z, Hosni Y, Kananen J, Annunen J, Ansakorpi H, Korhonen V, Seppänen T, Kiviniemi V2023-05-09Scientific reports
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.Macnee M, Pérez-Palma E, Brünger T, Klöckner C, Platzer K, Stefanski A, Montanucci L, Bayat A, Radtke M, Collins RL, Talkowski M, Blankenberg D, Møller RS, Lemke JR, Nothnagel M, May P, Lal D2023-05-04Bioinformatics (Oxford, England)
Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey.Cossu A, Lo Barco T, Proietti J, Dalla Bernardina B, Cantalupo G, Ghobert L, Brambilla I, Giarola E, Costa A, De Benito T, Bethge S, Cardot S, Montwill I, Remonato E, Gramaglia S, Darra F2023-05-01Caregiver, Encephalopathy, Epilepsy, KCNQ2, Neonatal seizures, Outcome, Phenotype, SeverityEpilepsy & behavior : E&B
Health-related quality of life in adults with drug-resistant focal epilepsy treated with modified Atkins diet in a randomized clinical trial.Kverneland M, Nakken KO, Hofoss D, Skogan AH, Iversen PO, Selmer KK, Lossius MI2023-05-01HRQOL, QOL, QOLIE-89, ketogenic diet, patient-reported outcome measureEpilepsia
Not surgical technique, but etiology, contralateral MRI, prior surgery, and side of surgery determine seizure outcome after pediatric hemispherotomy.Ramantani G, Bulteau C, Cserpan D, Otte WM, Dorfmüller G, Cross JH, Zentner J, Tisdall M, Braun KPJ2023-05-01hemispheric surgery, hemispherotomy, pediatric epilepsy, seizure outcomeEpilepsia
Oxygen Therapy: An Acute Treatment for Paroxysmal Dystonia in Alternating Hemiplegia of Childhood?Welniarz Q, Gras D, Roubertie A, Papadopoulou MT, Panagiotakaki E, Roze E2023-05-01Movement disorders : official journal of the Movement Disorder Society
Method considerations and study protocol for a Nordic multi-centre prospective study on outcomes in rare paediatric epilepsy surgery subgroups.Reinholdson J, Malmgren K, Chaplin J, Olsson I, Hallböök T2023-05-01Acta paediatrica (Oslo, Norway : 1992)
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB, Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A2023-04-19ATP6V0C, V-ATPase, VMA3, epilepsy genetics, neurodevelopmental disordersBrain : a journal of neurology
Review of Machine Learning and Artificial Intelligence (ML/AI) for the Pediatric Neurologist.Gombolay GY, Gopalan N, Bernasconi A, Nabbout R, Megerian JT, Siegel B, Hallman-Cooper J, Bhalla S, Gombolay MC2023-04-01Artificial intelligence, Machine learning, Natural language processing, Pediatric neurology, Supervised learning, Unsupervised learningPediatric neurology
When is it time for palliative and end-of-life care in status epilepticus?Kälviäinen R, Allal Z, Kantanen AM2023-04-01Mortality, Prognostication, Refractory status epilepticus, Super-refractory status epilepticusEpilepsy & behavior : E&B
Respiratory brain impulse propagation in focal epilepsy.Elabasy A, Suhonen M, Rajna Z, Hosni Y, Kananen J, Annunen J, Ansakorpi H, Korhonen V, Seppänen T, Kiviniemi V2023-03-30Scientific reports
GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders.Varesio C, De Giorgis V, Veggiotti P, Nardocci N, Granata T, Ragona F, Pasca L, Mensi MM, Borgatti R, Olivotto S, Previtali R, Riva A, Mancardi MM, Striano P, Cavallin M, Guerrini R, Operto FF, Pizzolato A, Di Maulo R, Martino F, Lodi A, Marini C2023-03-21GLUT1 deficiency syndrome, Patient registry, Rare diseaseOrphanet journal of rare diseases
Low IQ predicts worse long-term seizure outcome after resective epilepsy surgery - A propensity score matched analysis.Reinholdson J, Olsson I, Edelvik Tranberg A, Malmgren K2023-03-01Epilepsy surgery, Focal epilepsy, Intellectual disability, Long term outcomeEpilepsy research
Encephalopathy related to status epilepticus during slow sleep (ESES). Pathophysiological insights and nosological considerations.Rubboli G, Gardella E, Cantalupo G, Alberto Tassinari C2023-03-01CSWS, ESES, Epileptic encephalopathy, Sleep, Sleep slow wave activity, Synaptic homeostasisEpilepsy & behavior : E&B
COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria.Straka B, Vlčková M, Libá Z, Heřmanovská B, Kynčl M, Dorňáková J, Táborský J, Kršek P, Musilová A, Janota J, Balaščaková M2023-03-01COL4A1, COL4A1 mutation-related disorders, intracranial hemorrhage, malformation of cortical development, polymicrogyriaEpilepsia open
The relationship between memory and quality of life is mediated by trait anxiety in patients with temporal lobe epilepsy.Cano-López I, Lozano-García A, Catalán-Aguilar J, Hampel KG, Villanueva V, González-Bono E2023-03-01Drug-resistant epilepsy, Memory, Quality of life, Temporal lobe epilepsy, Trait anxietyQuality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation
Medical treatment in infants and young children with epilepsy: Off-label use of antiseizure medications. Survey Report of ILAE Task Force Medical Therapies in Children.Sourbron J, Auvin S, Arzimanoglou A, Cross JH, Hartmann H, Pressler R, Riney K, Sugai K, Wilmshurst JM, Yozawitz E, Lagae L2023-03-01International League Against Epilepsy, children, epilepsy treatment, off-label, questionnaireEpilepsia open
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.Happ HC, Sadleir LG, Zemel M, de Valles-Ibáñez G, Hildebrand MS, McConkie-Rosell A, McDonald M, May H, Sands T, Aggarwal V, Elder C, Feyma T, Bayat A, Møller RS, Fenger CD, Klint Nielsen JE, Datta AN, Gorman KM, King MD, Linhares ND, Burton BK, Paras A, Ellard S, Rankin J, Shukla A, Majethia P, Olson RJ, Muthusamy K, Schimmenti LA, Starnes K, Sedláčková L, Štěrbová K, Vlčková M, Laššuthová P, Jahodová A, Porter BE, Couque N, Colin E, Prouteau C, Collet C, Smol T, Caumes R, Vansenne F, Bisulli F, Licchetta L, Person R, Torti E, McWalter K, Webster R, Gerard EE, Lesca G, Szepetowski P, Scheffer IE, Mefford HC, Carvill GL2023-02-07Neurology
WADA test for postoperative memory prediction in left TLE. Is it still useful in the 21st century?Bruzsa AK, Walther K, Kasper BS, Gollwitzer S, Hamer H, Schwarz M2023-02-01Epilepsy surgery, Memory changes, Temporal lobe epilepsy, Wada testClinical neurology and neurosurgery
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.Harrer P, Schalk A, Shimura M, Baer S, Calmels N, Spitz MA, Warde MA, Schaefer E, Kittke VMS, Dincer Y, Wagner M, Dzinovic I, Berutti R, Sato T, Shirakawa T, Okazaki Y, Murayama K, Oexle K, Prokisch H, Mall V, Melčák I, Winkelmann J, Zech M2023-02-01Annals of neurology
Loss of maturity and homeostatic functions in Tuberous Sclerosis Complex-derived astrocytes.Luinenburg MJ, Scheper M, Sørensen FNF, Anink JJ, Van Hecke W, Korshunova I, Jansen FE, Riney K, van Eijsden P, Gosselaar P, Mills JD, Kalf RS, Zimmer TS, Broekaart DWM, Khodosevich K, Aronica E, Mühlebner A2023-01-01TSC, astrocytes, epilepsy, glutamate buffering, inflammation, phagocytosisFrontiers in cellular neuroscience
Progressive myoclonic epilepsy type 1 (EPM1) patients present with abnormal 1H MRS brain metabolic profiles associated with cognitive function.Hyppönen J, Paanila V, Äikiä M, Koskenkorva P, Könönen M, Vanninen R, Mervaala E, Kälviäinen R, Hakumäki J2023-01-01Brain, Cognition, EPM1, MRS, Neuropsychology, SpectroscopyNeuroImage. Clinical
Ketogenic dietary therapies in epilepsy: recommendations of the Italian League against Epilepsy Dietary Therapy Study Group.De Giorgis V, Tagliabue A, Bisulli F, Brambilla I, Camerini A, Cusmai R, Darra F, Dianin A, Domenica E, Lodi MAM, Matricardi S, Messana T, Operto F, Ragona F, Russo E, Varesio C, Volpi L, Zanaboni MP, Pasca L, Veggiotti P2023-01-01Ketogenic dietary therapies, consensus, drug resistant epilepsy, multidisciplinary approach, recommendations, target treatmentFrontiers in neurology
Stress phenotypes in epilepsy: impact on cognitive functioning and quality of life.Catalán-Aguilar J, González-Bono E, Lozano-García A, Tormos-Pons P, Hampel KG, Villanueva V, Cano-López I2023-01-01cognition, epilepsy, executive function, memory, naming, quality of life, resilience, stressFrontiers in psychology
Essential headaches in developmental age: What is changed before, during and after the lockdown for COVID-19 pandemic. Clinical study.Bonuccelli A, Depietri G, Baldaccini T, Ricciutelli I, Peroni D, Spalice A, Massimetti G, Morganti R, Orsini A, Striano P2023-01-01COVID-19, headaches, lockDown, pandemic, video-terminalFrontiers in pediatrics
Ketogenic diet for super-refractory status epilepticus (SRSE) with NORSE and FIRES: Single tertiary center experience and literature data.Nabbout R, Matricardi S, De Liso P, Dulac O, Oualha M2023-01-01FIRES, KD, NORSE, New-Onset Refractory Status Epilepticus, SRSE, febrile infection-related epilepsy syndrome, ketogenic diet, super refractory status epilepticusFrontiers in neurology
Classic ketogenic diet in parenteral nutrition in a GLUT1DS patient: Doing more with less in an acute surgical setting.De Giorgis V, Ferraris C, Brena ML, Farris G, Gentilino V, Guglielmetti M, Marazzi C, Pasca L, Trentani C, Tagliabue A, Varesio C2023-01-01GLUT1 deficiency syndrome, appendicitis, classic ketogenic diet, ketone bodies, parenteral nutrition, surgeryFrontiers in nutrition
Data-driven historical characterization of epilepsy-associated genes.Macnee M, Pérez-Palma E, López-Rivera JA, Ivaniuk A, May P, Møller RS, Lal D2023-01-01Epilepsy, Epilepsy genes, Genetics, Literature review, Monogenic, Variant functionEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Shaping the future of European epilepsy research: Final meeting report from EPICLUSTER.Henshall DC, Arzimanoglou A, Dedeurwaerdere S, Guerrini R, Jozwiak S, Kokaia M, Lerche H, Pitkänen A, Ryvlin P, Simonato M, Sisodiya SM2023-01-01Brain, Diagnosis, Epilepsy, Horizon Europe, Public Patient Involvement, Research agenda, Stakeholders, TherapeuticsEpilepsy research
Tuberous sclerosis complex - The importance of genetic testing.Borges JP, Grenha Pereira J, Rainha Campos A, Santos F2023-01-01TSC1, TSC2, refractory epilepsy, tuberous sclerosis complexPediatrics international : official journal of the Japan Pediatric Society
Supporting Attention in Children with Epilepsy (SPACE): Pilot of a psychoeducational intervention.Svanström K, Hallböök T, Rezanova J, Olsson I, Carlén C, Reilly C2023-01-01Attention, Child, Epilepsy, PsychoeducationEpilepsy & behavior : E&B
Short- and long-interval intracortical inhibition in EPM1 is related to genotype.Silvennoinen K, Säisänen L, Hyppönen J, Rissanen SM, Karjalainen PA, D'Ambrosio S, Jimenez-Jimenez D, Zagaglia S, Rothwell JC, Balestrini S, Sisodiya SM, Julkunen P, Mervaala E, Kälviäinen R2023-01-01LICI, SICI, Unverricht-Lundborg disease, progressive myoclonic epilepsy, transcranial magnetic stimulationEpilepsia
Completion of disconnective surgery for refractory epilepsy in pediatric patients using robot-assisted MRI-guided laser interstitial thermal therapy.Candela-Cantó S, Muchart J, Valera C, Jou C, Culebras D, Alamar M, Becerra V, Artés D, Armero G, Aparicio J, Hinojosa J, Rumià J2023-01-01LITT, disconnective surgery, epilepsy surgery, hemispherotomy, laser ablation, laser interstitial thermal therapy, posterior quadrant disconnection, surgical techniqueJournal of neurosurgery. Pediatrics
Dynamic induction of the myelin-associated growth inhibitor Nogo-A in perilesional plasticity regions after human spinal cord injury.Schwaiger C, Haider T, Endmayr V, Zrzavy T, Gruber VE, Ricken G, Simonovska A, Hametner S, Schwab JM, Höftberger R2023-01-01Brain pathology (Zurich, Switzerland)
Tuberous sclerosis complex and epilepsy in infancy: prevention and early Saint Martin A, Napuri S, Nguyen S2022-12-01Children, Epilepsy, Infantile spasms, Treatment, Tuberous sclerosisArchives de pediatrie : organe officiel de la Societe francaise de pediatrie
Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity.Rychkov GY, Shaukat Z, Lim CX, Hussain R, Roberts BJ, Bonardi CM, Rubboli G, Meaney BF, Whitney R, Møller RS, Ricos MG, Dibbens LM2022-12-01K+ channels, channelopathies, epilepsy, gain-of-function mutations, patch clampingInternational journal of molecular sciences
STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes.Gokce-Samar Z, de Bellescize J, Arzimanoglou A, Putoux A, Chatron N, Lesca G, Portes VD2022-12-01Duplication, Eyelid myoclonia with absence, Intellectual disability, Photosensitivity, STAG2European journal of medical genetics
Yield and risk associated with prolonged presurgical video-EEG monitoring: a systematic review.van Griethuysen R, van Asch CJJ, Otte WM, Sander JW, Braun KPJ2022-12-01epilepsy, presurgical, video-EEG monitoring, anti-seizure medication, medication withdrawal, adverse eventsEpileptic disorders : international epilepsy journal with videotape
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, Vintan MA, Symonds J, Andrew J, Arzimanoglou A, Delima S, Gallois J, Hanrahan D, Lesca G, MacLeod S, Marjanovic D, McTague A, Nuñez-Enamorado N, Perez-Palma E, Scott Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U, Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS, Mantegazza M, Cestèle S2022-11-21SCN1A, arthrogryposis, epilepsy, gain of function, movement disorderBrain : a journal of neurology
Pre-surgical evaluation challenges and long-term outcome in children operated on for Low Grade Epilepsy Associated brain Tumors.Chávez López EK, Aparicio J, Valera C, Campistol Plana J, Ramírez Camacho A, Fons C, Arzimanoglou A2022-11-01Cognitive outcome, Epilepsy outcome, Epilepsy surgery, LEATs, Low-grade epilepsy associated brain tumors, Pre-surgical epilepsy evaluationEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Intraoperative electrocorticography using high-frequency oscillations or spikes to tailor epilepsy surgery in the Netherlands (the HFO trial): a randomised, single-blind, adaptive non-inferiority trial.Zweiphenning W, Klooster MAV', van Klink NEC, Leijten FSS, Ferrier CH, Gebbink T, Huiskamp G, van Zandvoort MJE, van Schooneveld MMJ, Bourez M, Goemans S, Straumann S, van Rijen PC, Gosselaar PH, van Eijsden P, Otte WM, van Diessen E, Braun KPJ, Zijlmans M2022-11-01The Lancet. Neurology
Expectations of patient associations from a French Center for Rare Epilepsies.Höhn S, Dozières-Puyravel B, Auvin S2022-11-01Epilepsy, Orphan disease, Patient association, Rare disease, Social mediaEpilepsy & behavior : E&B
Sex differences in side effects of antiseizure medications in pediatric patients with epilepsy: A systematic review.Giuliano L, Vecchio C, Mastrangelo V, Durante V, Zambrelli E, Cantalupo G, La Neve A, Ermio C, Mostacci B2022-11-01Antiseizure medications, Epilepsy, Sex, Side effectSeizure
Perceived stigma in adults with epilepsy in Sweden and associations with country of birth, socioeconomic status, and mental health.Andersson K, Ozanne A, Zelano J, Malmgren K, Chaplin JE2022-11-01Epilepsy, Immigration, Mental health, Socioeconomic status, StigmaEpilepsy & behavior : E&B
The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study.Cerulli Irelli E, Cocchi E, Ramantani G, Riva A, Caraballo RH, Morano A, Giuliano L, Yilmaz T, Panagiotakaki E, Operto FF, Giraldez BG, Balestrini S, Silvennoinen K, Casciato S, Comajuan M, Fortunato F, Giallonardo AT, Gamirova R, Coppola A, Di Gennaro G, Labate A, Sofia V, Kluger GJ, Gambardella A, Kasteleijn-Nolst Trenite D, Baykan B, Sisodiya SM, Arzimanoglou A, Striano P, Di Bonaventura C2022-10-28Jeavons Syndrome, classification, eyelid myoclonia with absences (EMA), idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME)Epilepsia
Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.Krüger J, Schubert J, Kegele J, Labalme A, Mao M, Heighway J, Seebohm G, Yan P, Koko M, Aslan-Kara K, Caglayan H, Steinhoff BJ, Weber YG, Keo-Kosal P, Berkovic SF, Hildebrand MS, Petrou S, Krause R, May P, Lesca G, Maljevic S, Lerche H2022-10-01Exome sequencing, Genetic generalized epilepsy, KCNQ5, Loss-of-function, Patch-clampEBioMedicine
Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy.Solazzi R, Moscatelli M, Sebastiano DR, Canafoglia L, Pezzoli L, Iascone M, Granata T2022-10-01Neurology. Genetics
Frequency of epileptic seizures in patients undergoing decompressive craniectomy after ischemic stroke.Franco AC, Fernandes T, Peralta AR, Basílio G, Carneiro I, Pinho E Melo T, Bentes C2022-10-01Acute symptomatic seizures, Craniectomy, Epileptic seizures, Ischemic stroke, UnprovokedSeizure
Cumulative effects of antiseizure medication on intelligence in children with focal epilepsy.Stevering CH, Lamberink HJ, Woodfield J, van Schooneveld M, Otte WM, Chin RFM, Bastin ME, Geleijns K, Braun KPJ2022-10-01cognition, intelligence quotient, neurodevelopment, structural connectivityEpileptic disorders : international epilepsy journal with videotape
Transition to adult care in epilepsy: A systematic review.Goselink RJM, Olsson I, Malmgren K, Reilly C2022-10-01Seizure
A structured, blended learning program towards proficiency in epileptology: the launch of the ILAE Academy Level 2 Program.Blümcke I, Biesel E, Bedenlier S, Händel M, Wilmshurst J, Mehndiratta MM, Yacubian EM, Cendes F, Arzimanoglou A, Beniczky S, Wolf P, Giavasi C, Baxendale S, Shisler P, Wiebe S2022-10-01International League Against Epilepsy (ILAE), curriculum in epileptology, e-learning, Level 2 programEpileptic disorders : international epilepsy journal with videotape
Hyperperfusion Tmax mapping for nonconvulsive status epilepticus in the acute setting: A pilot case-control study.Romoli M, Merli E, Galluzzo S, Muccioli L, Testoni S, Zaniboni A, Contardi S, Simonetti L, Tinuper P, Zini A2022-10-01brain perfusion, computed tomographyCT perfusionnonconvulsivestatus epilepticusEpilepsia
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.Maillard PY, Baer S, Schaefer É, Desnous B, Villeneuve N, Lépine A, Fabre A, Lacoste C, El Chehadeh S, Piton A, Porter LF, Perriard C, Wardé MA, Spitz MA, Laugel V, Lesca G, Putoux A, Ville D, Mignot C, Héron D, Nabbout R, Barcia G, Rio M, Roubertie A, Meyer P, Paquis-Flucklinger V, Patat O, Lefranc J, Gerard M, de Bellescize J, Villard L, De Saint Martin A, Milh M2022-10-01GABA A receptor, channelopathy, developmental and epileptic encephalopathy, genetic generalized epilepsyEpilepsia
How can we optimize the long-term outcome in children with intracranial cavernous malformations? A single-center experience of 61 cases.Hirschmann D, Czech T, Roessler K, Krachsberger P, Paliwal S, Ciobanu-Caraus O, Cho A, Peyrl A, Feucht M, Frischer JM, Dorfer C2022-10-01Brainstem, Conservative, Lobar, Pediatric cavernous malformation, SeizuresNeurosurgical review
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.Cordovado A, Schaettin M, Jeanne M, Panasenkava V, Denommé-Pichon AS, Keren B, Mignot C, Doco-Fenzy M, Rodan L, Ramsey K, Narayanan V, Jones JR, Prijoles EJ, Mitchell WG, Ozmore JR, Juliette K, Torti E, Normand EA, Granger L, Petersen AK, Au MG, Matheny JP, Phornphutkul C, Chambers MK, Fernández-Ramos JA, López-Laso E, Kruer MC, Bakhtiari S, Zollino M, Morleo M, Marangi G, Mei D, Pisano T, Guerrini R, Louie RJ, Childers A, Everman DB, Isidor B, Audebert-Bellanger S, Odent S, Bonneau D, Gilbert-Dussardier B, Redon R, Bézieau S, Laumonnier F, Stoeckli ET, Toutain A, Vuillaume ML2022-09-29Human molecular genetics
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu M, Jansen A, Scalais E, Srivastava S, Tan WH, Olson HE, Loddenkemper T, Poduri A, Helbig KL, Helbig I, Fitzgerald MP, Goldberg EM, Roser T, Borggraefe I, Brünger T, May P, Lal D, Lederer D, Rubboli G, Heyne HO, Lesca G, Hedrich UBS, Benda J, Gardella E, Lerche H, Møller RS2022-09-14SCN8A, epilepsy, genetics, personalized medicineBrain : a journal of neurology
Genetic causes of rare and common epilepsies: What should the epileptologist know?Lesca G, Baumgartner T, Monin P, De Dominicis A, Kunz WS, Specchio N2022-09-01Epilepsy, Gene panel, Genetic counseling, Genetic testing, Whole-exome sequencingEuropean journal of medical genetics
Effect of fenfluramine on seizures and comorbidities in SCN8A-developmental and epileptic encephalopathy: A case series.Aledo-Serrano Á, Cabal-Paz B, Gardella E, Gómez-Porro P, Martínez-Múgica O, Beltrán-Corbellini A, Toledano R, García-Morales I, Gil-Nagel A2022-09-01drug repurposing, epilepsy, genetic epilepsy, seizures, sodium channelopathyEpilepsia open
The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits.Ahring PK, Liao VWY, Lin S, Absalom NL, Chebib M, Møller RS2022-09-01Epilepsia
Epileptic spasms are associated with increased stereo-electroencephalography derived functional connectivity in tuberous sclerosis complex.Neal A, Bouet R, Lagarde S, Ostrowsky-Coste K, Maillard L, Kahane P, Touraine R, Catenoix H, Montavont A, Isnard J, Arzimanoglou A, Hermier M, Guenot M, Bartolomei F, Rheims S, Jung J2022-09-01epileptogenicity, network, stereo-EEG, tubersEpilepsia
Seizure underreporting in LGI1 and CASPR2 antibody encephalitis.Baumgartner T, Pitsch J, Olaciregui-Dague K, Hoppe C, Racz A, Rüber T, Becker A, von Wrede R, Surges R2022-09-01CASPR2 antibody encephalitis, LGI1 antibody encephalitis, acute symptomatic seizures secondary to autoimmune encephalitis, seizure underreportingEpilepsia
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB, Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S, Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R, Masuelli L, Conti V, Novarino G, Fassio A2022-08-27ATP6V1A, developmental delay, epileptic encephalopathy, lysosomal disorder, progressive brain atrophyBrain : a journal of neurology
Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical Practice.Blazekovic A, Gotovac Jercic K, Meglaj S, Duranovic V, Prpic I, Lozic B, Malenica M, Markovic S, Lujic L, Petelin Gadze Z, Juraski RG, Barišic N, Baric I, Borovecki F2022-08-17clinical decision making, epilepsy, gene panel, next-generation sequencing, pediatricGenes
miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex.Scheper M, Romagnolo A, Besharat ZM, Iyer AM, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Petrak B, Maulisova A, Nabbout R, Jansen AC, Jansen FE, Lagae L, Urbanska M, Ferretti E, Tempes A, Blazejczyk M, Jaworski J, Kwiatkowski DJ, Jozwiak S, Kotulska K, Sadowski K, Borkowska J, Curatolo P, Mills JD, Aronica E, Epistop Consortium Members2022-07-29autism spectrum disorder, biomarkers, epilepsy, intellectual disability, serum, tuberous sclerosis complexBiomedicines
Reorganization of the Brain Extracellular Matrix in Hippocampal Sclerosis.Sitaš B, Bobić-Rasonja M, Mrak G, Trnski S, Krbot Skorić M, Orešković D, Knezović V, Petelin Gadže Ž, Petanjek Z, Šimić G, Kolenc D, Jovanov Milošević N2022-07-25aggrecan, drug-resistant epilepsy, human hippocampus, perineuronal netsInternational journal of molecular sciences
Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists.McTague A, Brunklaus A, Barcia G, Varadkar S, Zuberi SM, Chatron N, Parrini E, Mei D, Nabbout R, Lesca G2022-07-01Epilepsy, Gene, Genotype, Multidisciplinary meetings, PhenotypeEuropean journal of medical genetics
European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases.Aleksovska K, Kobulashvili T, Costa J, Zimmermann G, Ritchie K, Reinhard C, Vignatelli L, Fanciulli A, Damian M, Pavlakova L, Burgunder JM, Kopishinskaya S, Rakusa M, Kovacs N, Erdogan FF, Linton LR, Copetti M, Lamperti C, Servidei S, Evangelista T, Ayme S, Pareyson D, Sellner J, Krarup C, de Visser M, van den Bergh P, Toscano A, Graessner H, Berger T, Bassetti C, Vidailhet M, Trinka E, Deuschl G, Federico A, Leone MA2022-06-01AGREE, Delphi, consensus, guideline, neurology, rare diseases, recommendationEuropean journal of neurology
Inflammation in pediatric epilepsies: Update on clinical features and treatment options.Granata T, Fusco L, Matricardi S, Tozzo A, Janigro D, Nabbout R2022-06-01Encephalitis, Epilepsy, Epileptogenesis, Immunity, Neurodevelopment, NeuroinflammationEpilepsy & behavior : E&B
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.Schwarz N, Seiffert S, Pendziwiat M, Rademacher AV, Brünger T, Hedrich UBS, Augustijn PB, Baier H, Bayat A, Bisulli F, Buono RJ, Bruria BZ, Doyle MG, Guerrini R, Heimer G, Iacomino M, Kearney H, Klein KM, Kousiappa I, Kunz WS, Lerche H, Licchetta L, Lohmann E, Minardi R, McDonald M, Montgomery S, Mulahasanovic L, Oegema R, Ortal B, Papacostas SS, Ragona F, Granata T, Reif PS, Rosenow F, Rothschild A, Scudieri P, Striano P, Tinuper P, Tanteles GA, Vetro A, Zahnert F, Goldberg EM, Zara F, Lal D, May P, Muhle H, Helbig I, Weber Y2022-05-17Neurology
Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With Absences.Cerulli Irelli E, Cocchi E, Ramantani G, Caraballo RH, Giuliano L, Yilmaz T, Morano A, Panagiotakaki E, Operto FF, Gonzalez Giraldez B, Silvennoinen K, Casciato S, Comajuan M, Balestrini S, Fortunato F, Coppola A, Di Gennaro G, Labate A, Sofia V, Kluger GJ, Kasteleijn-Nolst Trenité DGA, Gambardella A, Baykan B, Sisodiya SM, Arzimanoglou A, Striano P, Di Bonaventura C2022-05-03Neurology
Dravet syndrome in children-A population-based study.Bjurulf B, Reilly C, Sigurdsson GV, Thunström S, Kolbjer S, Hallböök T2022-05-01Anticonvulsants, Demography, Dravet syndrome, Incidence, MortalityEpilepsy research
Pilomotor seizures in autoimmune limbic encephalitis: description of two GAD65 antibodies- related cases and literature review.Pondrelli F, Giannoccaro MP, Bisulli F, Ferri L, Menghi V, Mostacci B, Avoni P, Liguori R, Tinuper P, Licchetta L2022-05-01Autoimmune encephalitis, GAD65 antibodies, Ictal piloerection, Limbic encephalitis, Pilomotor seizuresSeizure
High-frequency oscillations in scalp EEG: A systematic review of methodological choices and clinical findings.Noorlag L, van Klink NEC, Kobayashi K, Gotman J, Braun KPJ, Zijlmans M2022-05-01EEG, Electroencephalography, HFO, High-frequency oscillation, Non-invasive, Ripple, Scalp, SurfaceClinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Impact of drug treatment and drug interactions in post-stroke epilepsy.Zhao L, Li J, Kälviäinen R, Jolkkonen J, Zhao C2022-05-01Acute seizures, Antihypertensive drugs, Antiseizure medication, Post-stroke epilepsy, Recanalization, Secondary prevention, StatinsPharmacology & therapeutics
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.Absalom NL, Liao VWY, Johannesen KMH, Gardella E, Jacobs J, Lesca G, Gokce-Samar Z, Arzimanoglou A, Zeidler S, Striano P, Meyer P, Benkel-Herrenbrueck I, Mero IL, Rummel J, Chebib M, Møller RS, Ahring PK2022-04-05Nature communications
Presurgical evaluation of drug-resistant paediatric focal epilepsy with PISCOM compared to SISCOM and FDG-PET.Aparicio J, Niñerola-Baizán A, Perissinotti A, Rubí S, Muchart J, Candela-Cantó S, Campistol J, Setoain X2022-04-01Drug-resistant paediatric focal epilepsy, FDG-PET, PISCOM, Presurgical evaluation of epilepsy, SISCOMSeizure
Surgical outcome of temporal plus epilepsy is improved by multilobar resection.Barba C, Rheims S, Minotti L, Grisotto L, Chabardès S, Guenot M, Isnard J, Pellacani S, Hermier M, Ryvlin P, Kahane P2022-04-01SEEG, epilepsy surgery, long-term, seizure outcome, temporal plusEpilepsia
The operational definition of epileptiform discharges significantly improves diagnostic accuracy and inter-rater agreement of trainees in EEG reading.Kural MA, Aydemir ST, Levent HC, Ölmez B, Özer IS, Vlachou M, Witt AH, Yilmaz AY, Beniczky S2022-04-01EEG, criteria, definition, diagnostic accuracy, interictal epileptiform discharges, teachingEpileptic disorders : international epilepsy journal with videotape
CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period.Garel P, Lesca G, Ville D, Poulat AL, Chatron N, Sanlaville D, Des Portes V, Arzimanoglou A, Lion-François L2022-03-01CASPR1, CNTNAP1, Contactin-associated protein, Dystonia, Hypomyelination, HypotoniaEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient.Martinez-Esteve Melnikova A, Pijuan J, Aparicio J, Ramírez A, Altisent-Huguet A, Vilanova-Adell A, Arzimanoglou A, Armstrong J, Palau F, Hoenicka J, San Antonio-Arce V2022-03-01AMPA receptor, Developmental epileptic encephalopathy, Epilepsy, Flip/flop, GRIA3, Synaptic transmission, X-linkedEuropean journal of medical genetics
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.Arnaud L, Abi Warde MT, Barcia G, de Bellescize J, Chatron N, Faoucher M, de Saint Martin A, Héron D, Jedraszak G, Lacoste C, Lèbre AS, Jenneson-Lyver M, Labalme A, Leguern E, Mignot C, Milh M, Nabbout R, Nava C, Panagiotakaki E, Piton A, Schaefer E, Thevenon J, Villard L, Ville D, Lesca G2022-03-01Epilepsy, Gene panel, Mendelian, Monogenic, Next-generation sequencing, Whole-genome sequencingEuropean journal of medical genetics
Cerebrospinal Fluid Ion Analysis in Neonatal Seizures.Casas-Alba D, Oliva C, Salgado MDC, Codina A, Agut T, García-Alix A, Garcia-Puig M, García-Cazorla À, Taglialatela M, Jou C, Artuch R, Fons C2022-03-01Cerebrospinal fluid ions, Choroid plexus, KCNQ2, Neonatal arterial ischemic stroke, Neonatal seizuresPediatric neurology
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.Johannesen KM, Iqbal S, Guazzi M, Mohammadi NA, Pérez-Palma E, Schaefer E, De Saint Martin A, Abiwarde MT, McTague A, Pons R, Piton A, Kurian MA, Ambegaonkar G, Firth H, Sanchis-Juan A, Deprez M, Jansen K, De Waele L, Briltra EH, Verbeek NE, van Kempen M, Fazeli W, Striano P, Zara F, Visser G, Braakman HMH, Haeusler M, Elbracht M, Vaher U, Smol T, Lemke JR, Platzer K, Kennedy J, Klein KM, Au PYB, Smyth K, Kaplan J, Thomas M, Dewenter MK, Dinopoulos A, Campbell AJ, Lal D, Lederer D, Liao VWY, Ahring PK, Møller RS, Gardella E2022-03-01Epilepsy, GABA, GABRB3, Genetics, MappingGenetics in medicine : official journal of the American College of Medical Genetics
Guidance on Dravet syndrome from infant to adult care: Road map for treatment planning in Europe.Cardenal-Muñoz E, Auvin S, Villanueva V, Cross JH, Zuberi SM, Lagae L, Aibar JÁ2022-03-01antiseizure medication, comorbidities, epilepsy, genetic diagnosis, treatment algorithmEpilepsia open
SYNGAP1-related developmental and epileptic encephalopathy: The impact on daily life.Lo Barco T, De Gaetano L, Santangelo E, Bravi T, Proietti J, Cantalupo G, Brambilla I, Darra F2022-02-01Autism, Comorbidities, Daily-living, Developmental and epileptic encephalopathy, Rehabilitation treatment, SYNGAP1Epilepsy & behavior : E&B
Genetic testing before epilepsy surgery - An exploratory survey and case collection from German epilepsy centers.Boßelmann CM, San Antonio-Arce V, Schulze-Bonhage A, Fauser S, Zacher P, Mayer T, Aparicio J, Albers K, Cloppenborg T, Kunz W, Surges R, Syrbe S, Weber Y, Wolking S2022-02-01Developmental and epileptic encephalopathy, Epilepsy genetics, Epilepsy surgery, Next generation sequencing in epilepsy, Sporadic and familial epilepsiesSeizure
SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy.Sourbron J, Jansen K, Mei D, Hammer TB, Møller RS, Gold NB, O'Grady L, Guerrini R, Lagae L2022-02-01Neuropediatrics
Development and Validation of Prediction Models for Developmental and Intellectual Outcome Following Pediatric Epilepsy Surgery.Cloppenborg T, van Schooneveld M, Hagemann A, Hopf JL, Kalbhenn T, Otte WM, Polster T, Bien CG, Braun KPJ2022-01-18Neurology
Treatment and care of women with epilepsy before, during, and after pregnancy: a practical guide.Nucera B, Brigo F, Trinka E, Kalss G2022-01-01anti-seizure medicine, breast feeding, folate, major congenital malformation, teratogenicityTherapeutic advances in neurological disorders
Reply to "Conduction studies on the sural nerve".Krøigård T, Andersen KV, Tankisi H, Beniczky S, Kristensen AG2022-01-01Clinical neurophysiology practice
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.Bar C, Breuillard D, Kuchenbuch M, Jennesson M, Le Guyader G, Isnard H, Rolland A, Doummar D, Fluss J, Afenjar A, Berquin P, De Saint Martin A, Dupont S, Goldenberg A, Lederer D, Lesca G, Maurey H, Meyer P, Mignot C, Nica A, Odent S, Poisson A, Scalais E, Sekhara T, Vrielynck P, Barcia G, Nabbout R2022-01-01Adaptive behavior, Autism spectrum disorder, Developmental and epileptic encephalopathy, KCNB1, Parental questionnaires, Psychometric evaluationEpilepsy & behavior : E&B
Insights into déjà vu: Associations between the frequency of experience and amplitudes of low-frequency oscillations in resting-state functional magnetic resonance imaging.Zatloukalova E, Mikl M, Shaw DJ, Marecek R, Sakalosova L, Kuratkova M, Mitterova K, Sklenarova B, Brazdil M2022-01-01ALFF, default mode network, déjà vu, fALFF, resting-state fMRIThe European journal of neuroscience
Lamotrigine-induced Brugada syndrome: A rare adverse event.Sotero FD, Silva CS, Cunha N, Franco A, Pimentel J2022-01-01Adverse events, Antiepileptic drugs, Epilepsy, LamotrigineSeizure
The EpiPick algorithm to select appropriate antiseizure medications in patients with epilepsy: Validation studies and updates.Asadi-Pooya AA, Beniczky S, Rubboli G, Sperling MR, Rampp S, Perucca E2022-01-01Epilepsia
DNA methylation-based classification of malformations of cortical development in the human brain.Jabari S, Kobow K, Pieper T, Hartlieb T, Kudernatsch M, Polster T, Bien CG, Kalbhenn T, Simon M, Hamer H, Rössler K, Feucht M, Mühlebner A, Najm I, Peixoto-Santos JE, Gil-Nagel A, Delgado RT, Aledo-Serrano A, Hou Y, Coras R, von Deimling A, Blümcke I2022-01-01Brain development, Cortical malformation, Deep learning, Epigenetic, EpilepsyActa neuropathologica
Case report of patient with bradycardia as a complication of VNS therapy and psychiatric worsening after turning VNS off.Dapic Ivancic B, Nankovic S, Vujevic A, Cajic I, Petelin Gadze Z2022-01-01Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G2021-12-31KCNT1, developmental and epileptic encephalopathies, epilepsy of infancy with migrating focal seizures, epileptic encephalopathies, sleep-related hypermotor epilepsyBrain : a journal of neurology
- SINGLE CENTRE EXPERIENCE.Bujan Kovač A, Petelin Gadže Ž, Tudor KI, Nanković S, Šulentić V, Poljaković Z, Mrak G, Mudrovčić M, Brezak I, Mijatović D, Đerke F, Desnica A, Nemir J, Čajić I, Nimac Kozina P, Đapić Ivančić B, Radić B, Hajnšek S2021-12-01Antiepileptic drugs, Drug-resistant epilepsy, Epilepsy, QOLIE-31, Quality of life, Vagus nerve stimulationActa clinica Croatica
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.Mura E, Nicita F, Masnada S, Battini R, Ticci C, Montomoli M, Berardinelli A, Pantaleoni C, Ardissone A, Foiadelli T, Tartara E, Salsano E, Veggiotti P, Ceccherini I, Moroni I, Bertini E, Tonduti D2021-12-01Alexander disease, GFAP, astrocytopathy, leukodystrophyMolecular genetics and metabolism
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G2021-12-01Neurology. Genetics
Genetic and epigenetic characterization of posterior pituitary tumors.Schmid S, Solomon DA, Perez E, Thieme A, Kleinschmidt-DeMasters BK, Giannini C, Reinhardt A, Asa SL, Mete O, Stichel D, Siewert C, Dittmayer C, Hasselblatt M, Paulus W, Nagel C, Harter PN, Schittenhelm J, Honegger J, Rushing E, Coras R, Pfister SM, Buslei R, Koch A, Perry A, Jones DTW, von Deimling A, Capper D, Lopes MB2021-12-01Brain tumor, Granular cell tumor, Molecular neuropathology, Pituicytoma, Posterior pituitary gland neoplasms, Spindle cell oncocytomaActa neuropathologica
Delayed hemorrhage after pediatric stereo-electroencephalography: delayed occurrence or delayed diagnosis?Brugada-Bellsolà F, Candela-Cantó S, Muchart López J, Aparicio Calvo J, Alamar Abril M, Becerra Castro V, Rumià Arboix J, Hinojosa Mena-Bernal J2021-12-01Delayed hemorrhage, Pediatric epilepsy surgery, Postoperative imaging, Stereo-electroencephalographyChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Rare and Complex Epilepsies from Childhood to Adulthood: Requirements for Separate Management or Scope for a Lifespan Holistic Approach?Balestrini S, Guerrini R, Sisodiya SM2021-11-24Epileptic encephalopathy, Lifespan clinics, Precision medicine, Rare syndrome, TransitionCurrent neurology and neuroscience reports
Hypothalamic Hamartomas: Evolving Understanding and Management.Cohen NT, Cross JH, Arzimanoglou A, Berkovic SF, Kerrigan JF, Miller IP, Webster E, Soeby L, Cukiert A, Hesdorffer DK, Kroner BL, Saper CB, Schulze-Bonhage A, Gaillard WD2021-11-02Neurology
May intraoperative detection of stereotactically inserted intracerebral electrodes increase precision of resective epilepsy surgery?Belohlavkova A, Jahodova A, Kudr M, Benova B, Ebel M, Liby P, Taborsky J, Jezdik P, Janca R, Kyncl M, Tichy M, Krsek P2021-11-01Children, Epilepsy surgery, Opercular-insular region, SEEGEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
The relation of etiology based on the 2017 ILAE classification to the effectiveness of the ketogenic diet in drug-resistant epilepsy in childhood.Breu M, Häfele C, Trimmel-Schwahofer P, Schmidt WM, Laconne F, Vodopiutz J, Male C, Dressler A2021-11-01ILAE classification, drug-resistant epilepsy, epilepsy syndromes, etiology, ketogenic diet, seizure freedomEpilepsia
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.Nøstvik M, Kateta SM, Schönewolf-Greulich B, Afenjar A, Barth M, Boschann F, Doummar D, Haack TB, Keren B, Livshits LA, Mei D, Park J, Pisano T, Prouteau C, Umair M, Waqas A, Ziegler A, Guerrini R, Møller RS, Tümer Z2021-11-01PUS3, epilepsy, global developmental delay, intellectual disability, microcephaly, pseudouridine, tRNA biogenesis, tRNA modificationClinical genetics
Classification of complications of epilepsy surgery and invasive diagnostic procedures: A proposed protocol and feasibility study.Bjellvi J, Cross JH, Gogou M, Leclercq M, Rheims S, Ryvlin P, Sperling MR, Rydenhag B, Malmgren K2021-11-01Wada test, adverse effects, adverse events, intracranial EEG, invasive EEGEpilepsia
Wearable monitoring of positive and negative myoclonus in progressive myoclonic epilepsy type 1.Rissanen SM, Hyppönen J, Silvennoinen K, Säisänen L, Karjalainen PA, Mervaala E, Kälviäinen R2021-10-01Accelerometry, Myoclonus, Progressive myoclonic epilepsy type 1 (EPM1), Surface electromyography (EMG), Unverricht-Lundborg disease, Wearable monitoringClinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Epilepsy care during the COVID-19 pandemic.Cross JH, Kwon CS, Asadi-Pooya AA, Balagura G, Gómez-Iglesias P, Guekht A, Hall J, Ikeda A, Kishk NA, Murphy P, Kissani N, Naji Y, Perucca E, Pérez-Poveda JC, Sanya EO, Trinka E, Zhou D, Wiebe S, Jette N2021-10-01COVID-19, people with epilepsy, psychological distress, telemedicineEpilepsia
Seizure worsening in pregnancy in women with sleep-related hypermotor epilepsy (SHE): A historical cohort study.Mostacci B, Troisi S, Bisulli F, Zenesini C, Licchetta L, Provini F, Avoni P, Rombini A, Vignatelli L, Tinuper P2021-10-01Pregnancy, Seizures, Sleep, Sleep-related hypermotor epilepsySeizure
Management and outcome of vagus nerve stimulator implantation: experience of an otolaryngeal/neuropediatric cooperation.Grasl S, Janik S, Dressler A, Diehm R, Gröppel G, Eichinger K, Grasl MC, Gstoettner W, Feucht M, Vyskocil E, Baumgartner WD2021-10-01Children, Epilepsy, Outcome, Perioperative management, Vagus nerve stimulator (VNS) surgeryEuropean archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
Impaired myelin production due to an intrinsic failure of oligodendrocytes in mTORpathies.Gruber VE, Lang J, Endmayr V, Diehm R, Pimpel B, Glatter S, Anink JJ, Bongaarts A, Luinenburg MJ, Reinten RJ, van der Wel N, Larsen P, Hainfellner JA, Rössler K, Aronica E, Scholl T, Mühlebner A, Feucht M2021-10-01focal cortical dysplasia 2B, myelination, nanofibres, oligodendrocyte, tuberous sclerosis complexNeuropathology and applied neurobiology
Physician and patient satisfaction with the switch to remote outpatient encounters in epilepsy clinics during the Covid-19 pandemic.Teng T, Sareidaki DE, Chemaly N, Bar C, Coste-Zeitoun D, Kuchenbuch M, Nabbout R2021-10-01Child neurology, EEG, Follow-up, Telehealth, Telemedicine, Virtual careSeizure
Safety and efficacy of rufinamide in children and adults with Lennox-Gastaut syndrome: A post hoc analysis from Study 022.Arzimanoglou A, Pringsheim M, Kluger GJ, Genton P, Perdomo C, Malhotra M2021-09-09Adults, Children, Lennox-Gastaut syndrome, Rufinamide, Safety, Tonic-atonic seizureEpilepsy & behavior : E&B
Postictal Psychosis in Epilepsy: A Clinicogenetic Study.Braatz V, Martins Custodio H, Leu C, Agrò L, Wang B, Calafato S, Rayner G, Doyle MG, Hengsbach C, Bisulli F, Weber YG, Gambardella A, Delanty N, Cavalleri G, Foong J, Scheffer IE, Berkovic SF, Bramon E, Balestrini S, Sisodiya SM2021-09-01Annals of neurology
Importance of access to epilepsy monitoring units during the COVID-19 pandemic: Consensus statement of the International League against epilepsy and the International Federation of Clinical Neurophysiology.Beniczky S, Husain A, Ikeda A, Alabri H, Helen Cross J, Wilmshurst J, Seeck M, Focke N, Braga P, Wiebe S, Schuele S, Trinka E2021-09-01COVID-19, Epilepsy, Epilepsy monitoring unit, Video-EEGClinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Occurrence and risk factors associated with seizures in infants with severe bronchiolitis.Huguet A, Valla F, Toulouse J, Javouhey E, Baudin F2021-09-01Hyponatremia, Mechanical ventilation, Seizure, Viral bronchiolitisEuropean journal of pediatrics
Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.Pondrelli F, Muccioli L, Licchetta L, Mostacci B, Zenesini C, Tinuper P, Vignatelli L, Bisulli F2021-08-16Orphanet journal of rare diseases
Status epilepticus: Practice variation and adherence to treatment guideline in a large community hospital.Sairanen JJ, Kantanen AM, Hyppölä HT, Kälviäinen RK2021-08-15Adherence, Drugs, Guideline, Pharmacotherapy, Seizure, Status epilepticusJournal of the neurological sciences
CRISPRa-Mediated Upregulation of scn1laa During Early Development Causes Epileptiform Activity and dCas9-Associated Toxicity.Weuring WJ, Dilevska I, Hoekman J, van de Vondervoort J, Koetsier M, van 't Slot RH, Braun KPJ, Koeleman BPC2021-08-01The CRISPR journal
Importance of access to epilepsy monitoring units during the COVID-19 pandemic: consensus statement of the International League Against Epilepsy and the International Federation of Clinical Neurophysiology.Beniczky S, Husain A, Ikeda A, Alabri H, Cross JH, Wilmshurst J, Seeck M, Focke N, Braga P, Wiebe S, Schuele S, Trinka E2021-08-01COVID-19 pandemic, IFCN, ILAE, epilepsy monitoring units (EMUs), video-EEGEpileptic disorders : international epilepsy journal with videotape
Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy.Solazzi R, Castellotti B, Canafoglia L, Messina G, Magri S, Freri E, Ragona F, Franceschetti S, Di Francesco JC, Gellera C, Granata T2021-08-01DEE, SCN8A-related epilepsy, developmental and epileptic encephalopathy, paroxysmal movement disorders, paroxysmal tonic upgazeEpileptic disorders : international epilepsy journal with videotape
A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation.Zhang Y, Ali SR, Nabbout R, Barcia G, Kaczmarek LK2021-08-01Kv3.1, channelopathy, epilepsy, intellectual disability, protein kinase CJournal of neurophysiology
Management of a first unprovoked epileptic seizure in adolescence and adulthood.Catarina Franco A, Parreira S, Bentes C, Pimentel J2021-08-01diagnosis, first unprovoked epileptic seizure, recurrence, treatmentEpileptic disorders : international epilepsy journal with videotape
Akinetic mutism in COVID-19-related encephalopathy: A cytokine-mediated maladaptive sickness behavioral response?Pensato U, Muccioli L, Janigro D, Guarino M, Bisulli F, Cortelli P2021-08-01Autonomic nervous system, CAR T-cells, Cytokine storm-associated encephalopathy (CySE), Cytokine-mediated neuroinflammation, Delirium, Frontal lobe, Hypothalamus, ICANS, Neuroinflammation, SepsisBrain, behavior, & immunity - health
Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome.Lo Barco T, Kuchenbuch M, Garcelon N, Neuraz A, Nabbout R2021-07-13Data mining, Dravet syndrome, Early diagnosis, Natural Language Processing, Rare DiseasesOrphanet journal of rare diseases
The benefit of the diffusion kurtosis imaging in presurgical evaluation in patients with focal MR-negative epilepsy.Bartoňová M, Bartoň M, Říha P, Vojtíšek L, Brázdil M, Rektor I2021-07-09Scientific reports
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA).Sauter M, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, Kingswood JC2021-07-06Malignancy, Rare manifestation, TOSCA, TSC, Tuberous sclerosis complexOrphanet journal of rare diseases
Non-convulsive status epilepticus induced by acute thalamic lesions: A report of three cases.Parreira S, Abreu L, Franco A, Bentes C, Peralta AR2021-07-01Acute symptomatic seizures, Generalized seizures, Non-convulsive status epilepticus, Thalamocortical networkSeizure
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R2021-06-22ATP1A2, ATP1A3, Na+/K+-ATPase pump, developmental and epileptic encephalopathy, polymicrogyriaBrain : a journal of neurology
The initial impact of the SARS-CoV-2 pandemic on epilepsy research.Volkers N, Wiebe S, Asadi-Pooya AA, Balagura G, Gómez-Iglesias P, Guekht A, Hall J, Ikeda A, Jetté N, Kishk NA, Murphy P, Perucca E, Pérez-Poveda JC, Sanya EO, Trinka E, Zhou D, Cross JH2021-06-01COVID-19, epilepsy care, epilepsy research, pandemic, virtual workingEpilepsia open
Characterization of the Insular Role in Cardiac Function through Intracranial Electrical Stimulation of the Human Insula.Sanchez-Larsen A, Principe A, Ley M, Navarro-Cuartero J, Rocamora R2021-06-01Annals of neurology
Needs and Experiences of Children and Adolescents with Pediatric Multiple Sclerosis and Their Caregivers: A Systematic Review.Ghai S, Kasilingam E, Lanzillo R, Malenica M, van Pesch V, Burke NC, Carotenuto A, Maguire R2021-05-25burden, caregivers, pediatric multiple sclerosis, quality of life, social supportChildren (Basel, Switzerland)
Revision of the diagnostic criteria of alternating hemiplegia of childhood.Mikati MA, Panagiotakaki E, Arzimanoglou A2021-05-01ATP1A3, Abnormal eye movements, Alternating hemiplegia, Dystonia, Epilepsy, Movement disordersEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Severe epilepsy in CNTNAP2-related Pitt-Hopkins-like syndrome successfully treated with stiripentol.Freri E, Castellotti B, Canafoglia L, Ragona F, Solazzi R, Vannicola C, Magri S, Messina G, D'Arrigo S, Gellera C, DiFrancesco JC, Granata T2021-05-01CNTNAP2, Next Generation Sequencing, Pitt-Hopkins syndrome, epilepsy, stiripentolSeizure
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.Raviglione F, Douzgou S, Scala M, Mingarelli A, D'Arrigo S, Freri E, Darra F, Giglio S, Bonaglia MC, Pantaleoni C, Mastrangelo M, Epifanio R, Elia M, Saletti V, Morlino S, Vari MS, De Liso P, Pavaine J, Spaccini L, Cattaneo E, Gardella E, Møller RS, Marchese F, Colonna C, Gandioli C, Gobbi G, Ram D, Palumbo O, Carella M, Germano M, Tonduti D, De Angelis D, Caputo D, Bergonzini P, Novara F, Zuffardi O, Verrotti A, Orsini A, Bonuccelli A, De Muto MC, Trivisano M, Vigevano F, Granata T, Bernardina BD, Tranchina A, Striano P2021-05-01EEG, Electro-clinical phenotype, Epilepsy, MEF2C, ADGRV1, Seizures, TherapySeizure
New anti-seizure medication for elderly epilepsy patients - a critical narrative review.Rohracher A, Kalss G, Kuchukhidze G, Neuray C, Leitinger M, Höfler J, Kreidenhuber R, Rossini F, Volna K, Mauritz M, Poppert N, Lattanzi S, Brigo F, Trinka E2021-04-01Antiepileptic drugs, brivaracetam, elderly, eslicarbazepine acetate, lacosamide, perampanelExpert opinion on pharmacotherapy
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.Masnada S, Pichiecchio A, Formica M, Arrigoni F, Borrelli P, Accorsi P, Bonanni P, Borgatti R, Bernardina BD, Danieli A, Darra F, Deconinck N, De Giorgis V, Dulac O, Gataullina S, Giordano L, Guerrini R, La Briola F, Mastrangelo M, Montomoli M, Mortilla M, Osanni E, Parisi P, Perucca E, Pinelli L, Romaniello R, Severino M, Vigevano F, Vignoli A, Bahi-Buisson N, Cavallin M, Accogli A, Burgeois M, Capra V, Chaves-Vischer V, Chiapparini L, Colafati G, D'Arrigo S, Desguerre I, Doco-Fenzy M, d'Orsi G, Epitashvili N, Fazzi E, Ferretti A, Fiorini E, Fradin M, Fusco C, Granata T, Johannesen KM, Lebon S, Loget P, Moller RS, Montanaro D, Orcesi S, Quelin C, Rebessi E, Romeo A, Solazzi R, Spagnoli C, Uebler C, Zara F, Arzimanoglou A, Veggiotti P2021-03-02Neurology
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy.Licchetta L, Ferri L, La Morgia C, Zenesini C, Caporali L, Lucia Valentino M, Minardi R, Fulitano D, Di Vito L, Mostacci B, Alvisi L, Avoni P, Liguori R, Tinuper P, Bisulli F, Carelli V2021-03-01MT-ATP6 MT-ATP6, epilepsy, maternally inherited Leigh's syndrome (MILS), neuropathy, ataxia, retinitis pigmentosa (NARP), progressive myoclonic epilepsy (PME)Annals of clinical and translational neurology
Cannabidiol in the treatment of epilepsy: Current evidence and perspectives for further research.Franco V, Bialer M, Perucca E2021-03-01Antiepileptic drugs, Antiseizure medications, Cannabidiol, Epilepsy, Seizures and reviewNeuropharmacology
The aetiologies of epilepsy.Balestrini S, Arzimanoglou A, Blümcke I, Scheffer IE, Wiebe S, Zelano J, Walker MC2021-02-01genetic, immune, infectious, metabolic, neurodegenerative, structuralEpileptic disorders : international epilepsy journal with videotape
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?Guerrini R, Cavallin M, Pippucci T, Rosati A, Bisulli F, Dimartino P, Barba C, Garbelli R, Buccoliero AM, Tassi L, Conti V2021-02-01Neurology. Genetics
Epilepsy with auditory features: Contribution of known genes in 112 patients.Bisulli F, Rinaldi C, Pippucci T, Minardi R, Baldassari S, Zenesini C, Mostacci B, Fanella M, Avoni P, Menghi V, Caporali L, Muccioli L, Tinuper P, Licchetta L2021-02-01DEPDC5, Genetics, LGI1, Next generation sequencing, RELN, SCN1ASeizure
Bioequivalence and switchability of generic antiseizure medications (ASMs): A re-appraisal based on analysis of generic ASM products approved in Europe.Odi R, Franco V, Perucca E, Bialer M2021-02-01Public Assessment Reports, antiepileptic drugs, bioequivalence, generic substitution, intra-subject variability, review, switchabilityEpilepsia
Sighs during sleep in multiple system atrophy.Parreira S, Antunes F, Coelho M, Bentes C, Peralta R2021-02-01Atypical parkinsonism, Multiple system atrophy, Sigh breaths, Sleep-related breathing disordersSleep medicine
Brain MRI post-processing with MAP07 in the preoperative evaluation of patients with pharmacoresistant epilepsy - Croatian single centre experience.Bujan Kovac A, Petelin Gadze Z, Rados M, Krbot Skoric M, Mrak G, Nemir J, Milosevic M, Hajnsek S2021-02-01Brain MRI postprocessing, Epilepsy, Hippocampal sclerosis, Malformation of cortical developmentClinical neurology and neurosurgery
STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG.Houtman SJ, Lammertse HCA, van Berkel AA, Balagura G, Gardella E, Ramautar JR, Reale C, Møller RS, Zara F, Striano P, Misra-Isrie M, van Haelst MM, Engelen M, van Zuijen TL, Mansvelder HD, Verhage M, Bruining H, Linkenkaer-Hansen K2021-01-01EEG, MUNC18-1, SNAREopathies, aperiodic exponent, excitation-inhibition balance, fE/IFrontiers in physiology
Using common genetic variants to find drugs for common epilepsies.Mirza N, Stevelink R, Taweel B, Koeleman BPC, Marson AG2021-01-01GWAS, drug repurposing, epilepsy, genomicsBrain communications
Normative reference values for the dorsal sural nerve derived from a large multicenter cohort.Krøigård T, Gylfadottir SS, Itani M, Khan KS, Andersen H, Sindrup SH, Jensen TS, Andersen KV, Tankisi H, Beniczky S, Kristensen AG2021-01-01Diagnosis, Dorsal sural nerve, Nerve conduction studies, Polyneuropathy, Reference valuesClinical neurophysiology practice
Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry.Nabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, O'Callaghan F, Qin J, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC, Kingswood JC2021-01-01TOSCA, TSC, epilepsy, registry, tuberous sclerosis complexFrontiers in neurology
Alternating hemiplegia of childhood: evolution over time and mouse model corroboration.Uchitel J, Wallace K, Tran L, Abrahamsen T, Hunanyan A, Prange L, Jasien J, Caligiuri L, Pratt M, Rikard B, Fons C, De Grandis E, Vezyroglou A, Heinzen EL, Goldstein DB, Vavassori R, Papadopoulou MT, Cocco I, Moré R, Arzimanoglou A, Panagiotakaki E, Mikati MA2021-01-01ATP1A3, alternating hemiplegia of childhood, disability, Mashlool D801N mouse, progressionBrain communications
Psychometric properties of the Czech versions of the Impact of Pediatric Epilepsy Scale (IPES) and Quality of Life in Epilepsy Inventory for Adolescents (QOLIE-AD-48).Brabcova DB, Belohlavkova A, Kohout J, Ebel M, Rokytova J, Krsek P2021-01-01Children with epilepsy, IPES, Instrument adaptation, Psychometric properties, QOLIE-AD-48, Quality of lifeEpilepsy & behavior : E&B
Optimal choice of antiseizure medication: Agreement among experts and validation of a web-based decision support application.Beniczky S, Rampp S, Asadi-Pooya AA, Rubboli G, Perucca E, Sperling MR2021-01-01algorithm, antiepileptic drugs, antiseizure medication, decision support system, standardizationEpilepsia
Temporal lobe epilepsy surgery in children and adults: A multicenter study.Barba C, Cossu M, Guerrini R, Di Gennaro G, Villani F, De Palma L, Grisotto L, Consales A, Battaglia D, Zamponi N, d'Orio P, Revay M, Rizzi M, Casciato S, Esposito V, Quarato PP, Di Giacomo R, Didato G, Pastori C, Pavia GC, Pellacani S, Matta G, Pacetti M, Tamburrini G, Cesaroni E, Colicchio G, Vatti G, Asioli S, Caulo M, Marras CE, Tassi L2021-01-01children, cognitive outcome, epilepsy surgery, seizure outcome, temporal lobeEpilepsia
COVID-19-related encephalopathy presenting with aphasia resolving following tocilizumab treatment.Muccioli L, Pensato U, Cani I, Guerra L, Provini F, Bordin G, Riccioli LA, Lodi R, Tinuper P, Bisulli F2020-12-15Cytokines, Delirium, Encephalitis, Immunotherapy, Neurological, SARS-COV-2Journal of neuroimmunology
Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene.Mastrangelo V, Minardi R, Baroni MC, Severi G, Ambrosini E, Toni F, Alvisi L, Licchetta L, Bisulli F, Tinuper P, Mostacci B2020-12-01Generalized epilepsy, Jeavons syndrome, Macrocephaly, NSD1, OvergrowthSeizure
Status epilepticus admissions during the COVID-19 pandemic in Salzburg-A population-based study.Leitinger M, Poppert KN, Mauritz M, Rossini F, Zimmermann G, Rohracher A, Kalss G, Kuchukhidze G, Höfler J, Bosque Varela P, Kreidenhuber R, Volna K, Neuray C, Kobulashvili T, Granbichler CA, Siebert U, Trinka E2020-12-01epidemiology, incidence, protection, risk, wristbandEpilepsia
Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay.Kobow K, Jabari S, Pieper T, Kudernatsch M, Polster T, Woermann FG, Kalbhenn T, Hamer H, Rössler K, Mühlebner A, Spliet WGM, Feucht M, Hou Y, Stichel D, Korshunov A, Sahm F, Coras R, Blümcke I, von Deimling A2020-12-01Brain development, Chromosome 1, Copy number variation, Cortical malformation, ID, SeizuresActa neuropathologica
Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.Balestrini S, Mikati MA, Álvarez-García-Rovés R, Carboni M, Hunanyan AS, Kherallah B, McLean M, Prange L, De Grandis E, Gagliardi A, Pisciotta L, Stagnaro M, Veneselli E, Campistol J, Fons C, Pias-Peleteiro L, Brashear A, Miller C, Samões R, Brankovic V, Padiath QS, Potic A, Pilch J, Vezyroglou A, Bye AME, Davis AM, Ryan MM, Semsarian C, Hollingsworth G, Scheffer IE, Granata T, Nardocci N, Ragona F, Arzimanoglou A, Panagiotakaki E, Carrilho I, Zucca C, Novy J, Dzieżyc K, Parowicz M, Mazurkiewicz-Bełdzińska M, Weckhuysen S, Pons R, Groppa S, Sinden DS, Pitt GS, Tinker A, Ashworth M, Michalak Z, Thom M, Cross JH, Vavassori R, Kaski JP, Sisodiya SM2020-11-24Neurology
Progress report on new antiepileptic drugs: A summary of the Fifteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XV). I. Drugs in preclinical and early clinical development.Bialer M, Johannessen SI, Koepp MJ, Levy RH, Perucca E, Perucca P, Tomson T, White HS2020-11-012-deoxy-D-glucose, GAO-3-02, JNJ-40411813, NBI-921352, NTX-001, XEN1101, XEN496, antiepileptic drugs, drugs development, epilepsy, sec-butylpropylacetamideEpilepsia
An accelerated shift in the use of remote systems in epilepsy due to the COVID-19 pandemic.Kuchenbuch M, D'Onofrio G, Wirrell E, Jiang Y, Dupont S, Grinspan ZM, Auvin S, Wilmshurst JM, Arzimanoglou A, Cross JH, Specchio N, Nabbout R2020-11-01E-health, E-learning, Remote work system, Teleconsultations, Telemedicine, Virtual meetingEpilepsy & behavior : E&B
Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation.Hadouiri N, Darmency V, Guibaud L, Arzimanoglou A, Sorlin A, Carmignac V, Rivière JB, Huet F, Luu M, Bardou M, Thauvin-Robinet C, Vabres P, Faivre L2020-11-01Everolimus, Mosaic mTOR mutation, Seizures, Therapy in rare diseases, mTOREuropean journal of medical genetics
High frequency oscillations in epileptic and non-epileptic human hippocampus during a cognitive task.Pail M, Cimbálník J, Roman R, Daniel P, Shaw DJ, Chrastina J, Brázdil M2020-10-23Scientific reports
The COVID-19 outbreak and approaches to performing EEG in Europe.Krysl D, Beniczky S, Franceschetti S, Arzimanoglou A2020-10-01coronavirus, electroencephalography, epilepsy, epilepsy surgery, video-EEGEpileptic disorders : international epilepsy journal with videotape
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, D'Amato L, Beure d'Augères G, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC, Jansen AC2020-09-01ASD, Cluster analysis, Factor analysis, Natural TAND clusters, Neuropsychiatric, Registry, TAND, TOSCA, Tuberous sclerosis complexJournal of neurodevelopmental disorders
Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.Belohlavkova A, Sterbova K, Betzler C, Burkhard S, Panzer A, Wolff M, Lassuthova P, Vlckova M, Kyncl M, Benova B, Jahodova A, Kudr M, Goerg M, Dusek P, Seeman P, Kluger G, Krsek P2020-09-01Beta-propeller protein-associated neurodegeneration, Neurodegeneration with brain iron accumulation WDR45, BPAN, Targeted gene panel sequencingEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.Ogórek B, Hamieh L, Hulshof HM, Lasseter K, Klonowska K, Kuijf H, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Benova B, Aronica E, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Janson S, Kozlowski P, Urbanska M, Jaworski J, Jozwiak S, Jansen FE, Kotulska K, Kwiatkowski DJ2020-09-01TSC1, TSC2, clinical manifestations, mosaicism, tuberous sclerosis complex (TSC)Genetics in medicine : official journal of the American College of Medical Genetics
Did the COVID-19 pandemic silence the needs of people with epilepsy?Granata T, Bisulli F, Arzimanoglou A, Rocamora R2020-08-01COVID-19, SARS-CoV-2, chronic disease, epilepsy, pandemicEpileptic disorders : international epilepsy journal with videotape
A pragmatic algorithm to select appropriate antiseizure medications in patients with epilepsy.Asadi-Pooya AA, Beniczky S, Rubboli G, Sperling MR, Rampp S, Perucca E2020-08-01algorithm, drug, epilepsy, seizure, treatmentEpilepsia
Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis.Masnada S, Chiara D, Giana I, Manuela F, Marco S, Andrea A, Patrizia A, Nadia BB, Valeria C, Mara C, Bernardo DB, Francesca D, Valentina G, Elisa F, Miguel FRL, Carlo F, Lucio G, Simona O, Lorenzo P, Erika R, Antonino R, Mariasavina S, Carlotta S, Pierangelo V, Anna P, Andrea R, Cecilia P2020-08-01Neuropediatrics
Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.Rudolf G, de Bellescize J, de Saint Martin A, Arzimanoglou A, Valenti Hirsch MP, Labalme A, Boulay C, Simonet T, Boland A, Deleuze JF, Nitschké P, Ollivier E, Sanlaville D, Hirsch E, Chelly J, Lesca G2020-07-01Atypical rolandic epilepsy, Focal idiopathic epilepsies of childhood, Gastaut type, Panayiotopoulous syndrome, Rolandic epilepsy, Self-limited focal epilepsies of childhood (SFEC)European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Keeping people with epilepsy safe during the COVID-19 pandemic.French JA, Brodie MJ, Caraballo R, Devinsky O, Ding D, Jehi L, Jette N, Kanner A, Modi AC, Newton CR, Patel AA, Pennell PB, Perucca E, Sander JW, Scheffer IE, Singh G, Williams E, Wilmshurst J, Cross JH2020-06-09Neurology
Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant.Ville D, Lesca G, Labalme A, Portes VD, Arzimanoglou A, de Bellescize J2020-06-01FARS2, aminoacyl tRNA transferase, epilepsy of infancy with migrating focal seizures (EIMFS), lactateEpileptic disorders : international epilepsy journal with videotape
How to diagnose and treat post-stroke seizures and epilepsy.Zelano J, Holtkamp M, Agarwal N, Lattanzi S, Trinka E, Brigo F2020-06-01intracerebral haemorrhage, ischaemic stroke, post-stroke epilepsy, post-stroke seizures, treatmentEpileptic disorders : international epilepsy journal with videotape
e-learning comes of age: Web-based education provided by the International League Against Epilepsy.Beniczky S, Blümcke I, Rampp S, Shisler P, Biesel E, Wiebe S2020-06-01ILAE, distance education, e-learning, epilepsy, online educationEpileptic disorders : international epilepsy journal with videotape
Effective posterior extension of callosotomy by gamma knife surgery.Hamdi H, Boissonneau S, Hadidane S, Guenot M, Bartolomei F, Regis J2020-06-01callosotomy, drop attacks, epilepsy, gamma knife, minimally invasive, radiosurgery, step-wiseEpileptic disorders : international epilepsy journal with videotape
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.Chatron N, Becker F, Morsy H, Schmidts M, Hardies K, Tuysuz B, Roselli S, Najafi M, Alkaya DU, Ashrafzadeh F, Nabil A, Omar T, Maroofian R, Karimiani EG, Hussien H, Kok F, Ramos L, Gunes N, Bilguvar K, Labalme A, Alix E, Sanlaville D, de Bellescize J, Poulat AL, Moslemi AR, Lerche H, May P, Lesca G, Weckhuysen S, Tajsharghi H2020-05-01GAD1, arthrogryposis, cleft palate, hypsarrhythmia, omphalocele, suppression-burstBrain : a journal of neurology
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization.Natera-de Benito D, Muchart J, Itzep D, Ortez C, González-Quereda L, Gallano P, Ramirez A, Aparicio J, Domínguez-Carral J, Carrera-García L, Expósito-Escudero J, Pardo Cardozo N, Cuadras D, Codina A, Jou C, Jimenez-Mallebrera C, Palau F, Colomer J, Arzimanoglou A, Nascimento A, San Antonio-Arce V2020-05-01LAMA2, EEG, MDC1A, epilepsy, merosin, seizuresEpilepsia
Gelastic seizures: a retrospective study in five tertiary hospital centres.Loução de Amorim I, Pereira C, Sequeira J, Rocha H, Peralta AR, Rego R, Bentes C, Bento C, Sales F, Robalo C, Pimentel J2020-04-01gelastic seizures, hypothalamic hamartoma, video-EEGEpileptic disorders : international epilepsy journal with videotape
The role of EEG in patients with suspected epilepsy.Benbadis SR, Beniczky S, Bertram E, MacIver S, Moshé SL2020-04-01EEG, epilepsy, indications, interpretation, reportEpileptic disorders : international epilepsy journal with videotape
MoCA as a cognitive assessment tool for absence status epilepticus.Rodrigues SG, Gouveia RG, Bentes C2020-04-01cognitive function, confusional syndrome, epilepsy, non convulsive status epilepticusEpileptic disorders : international epilepsy journal with videotape
Early Parkinsonism in a Senegalese girl with Lafora disease.Ragona F, Canafoglia L, Castellotti B, Solazzi R, Gabbiadini S, Freri E, Scaioli V, DiFrancesco JC, Gellera C, Granata T2020-04-01Lafora disease, NHLRC1 gene, Parkinsonism, progressive myoclonus epilepsyEpileptic disorders : international epilepsy journal with videotape
Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.Panagiotakaki E, Doummar D, Nogue E, Nagot N, Lesca G, Riant F, Nicole S, Delaygue C, Barthez MA, Nassogne MC, Dusser A, Vallée L, Billette T, Bourgeois M, Ioos C, Gitiaux C, Laroche C, Milh M, Portes VD, Arzimanoglou A, Roubertie A2020-03-31Neurology
Epilepsy and cannabidiol: a guide to treatment.Arzimanoglou A, Brandl U, Cross JH, Gil-Nagel A, Lagae L, Landmark CJ, Specchio N, Nabbout R, Thiele EA, Gubbay O, The Cannabinoids International Experts Panel2020-02-01CBD, Dravet, Epidiolex, Epidyolex, Lennox-Gastaut, cannabidiol, cannabis, epilepsy, guidelines, oilEpileptic disorders : international epilepsy journal with videotape
Outcome of status epilepticus and the predictive value of the EMSE and STESS scores: A prospective study.Sairanen JJ, Kantanen AM, Hyppölä HT, Kälviäinen RK2020-02-01Comorbidity, GOSE, Mortality, Prediction, Prognosis, SeizureSeizure
Automatic assessment of the myoclonus severity from videos recorded according to standardized Unified Myoclonus Rating Scale protocol and using human pose and body movement analysis.Hyppönen J, Hakala A, Annala K, Zhang H, Peltola J, Mervaala E, Kälviäinen R2020-01-24EPM1, Myoclonus, Pose estimation analysis, Unified Myoclonus Rating ScaleSeizure
The Impact of the COVID-19 Pandemic on People With Epilepsy. An Italian Survey and a Global Perspective.Mostacci B, Licchetta L, Cacciavillani C, Di Vito L, Ferri L, Menghi V, Stipa C, Avoni P, Provini F, Muccioli L, Vignatelli L, Mazzoni S, Tinuper P, Bisulli F2020-01-01COVID-19, emergency, epilepsy, survey, telemedicineFrontiers in neurology
Semi-automatic Extraction of Functional Dynamic Networks Describing Patient's Epileptic Seizures.Frusque G, Borgnat P, Gonçalves P, Jung J2020-01-01SEEG, dynamical graph, epilepsy, epileptogenic networks, functional connectivity, subgraphs extractionFrontiers in neurology
Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas.Kingswood JC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC, Sauter M2020-01-01TOSCA, mTOR, registry, renal angiomyolipoma, tuberous sclerosis complexFrontiers in neurology
Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study.Jansen AC, Vanclooster S, de Vries PJ, Fladrowski C, Beaure d'Augères G, Carter T, Belousova E, Benedik MP, Cottin V, Curatolo P, Dahlin M, D'Amato L, Ferreira JC, Feucht M, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC2020-01-01TOSCA, burden of illness, epilepsy, quality of life, tuberous sclerosis complexFrontiers in neurology
Neural correlates of verbal working memory in children with epilepsy with centro-temporal spikes.Ciumas C, Montavont A, Ilski F, Laurent A, Saignavongs M, Lachaux JP, de Bellescize J, Panagiotakaki E, Ostrowsky-Coste K, Herbillon V, Ibarrola D, Hermier M, Arzimanoglou A, Ryvlin P2020-01-01BCECTS, Children with epilepsy, Rolandic epilepsy, Verbal, Working memory, fMRINeuroImage. Clinical
Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC, Jansen AC2020-01-01TAND profile, TOSCA, TSC-associated neuropsychiatric disorders, intelligence quotient, tuberous sclerosis complexFrontiers in neurology
Influence of epilepsy surgery on developmental outcomes in children.Braun KPJ2020-01-01Children, Cognitive outcome, Development, Epilepsy surgeryEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
The role of cannabinoids in epilepsy treatment: a critical review of efficacy results from clinical trials.Nabbout R, Thiele EA2020-01-01Dravet syndrome, Lennox-Gastaut syndrome, cannabidiol, clinical trialEpileptic disorders : international epilepsy journal with videotape
Epileptogenicity in tuberous sclerosis complex: A stereoelectroencephalographic study.Neal A, Ostrowsky-Coste K, Jung J, Lagarde S, Maillard L, Kahane P, Touraine R, Catenoix H, Montavont A, Isnard J, Arzimanoglou A, Bartolomei F, Guenot M, Rheims S2020-01-01electroclinical syndromes, epilepsy surgery, epileptogenic zone, stereo-EEG, tuberous sclerosis complexEpilepsia
Dravet syndrome: Early electroclinical findings and long-term outcome in adolescents and adults.Darra F, Battaglia D, Dravet C, Patrini M, Offredi F, Chieffo D, Piazza E, Fontana E, Olivieri G, Turrini I, Dalla Bernardina B, Granata T, Ragona F2019-12-01adolescents and adults, complete Dravet syndrome, developmental and epileptic encephalopathy, long-term outcome, myoclonic phenotype, reflex seizuresEpilepsia
Novel study design to assess the efficacy and tolerability of antiseizure medications for focal-onset seizures in infants and young children: A consensus document from the regulatory task force and the pediatric commission of the International League against Epilepsy (ILAE), in collaboration with the Pediatric Epilepsy Research Consortium (PERC).Auvin S, French J, Dlugos D, Knupp KG, Perucca E, Arzimanoglou A, Whalen E, Shellhaas RA2019-12-01antiseizure drugs, children, clinical trials, drug development, infantsEpilepsia open
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, Coppola A, Licchetta L, Franceschetti S, Suppa A, Wenger A, Mei D, Pendziwiat M, Kaya S, Delledonne M, Straussberg R, Xumerle L, Regan B, Crompton D, van Rootselaar AF, Correll A, Catford R, Bisulli F, Chakraborty S, Baldassari S, Tinuper P, Barton K, Carswell S, Smith M, Berardelli A, Carroll R, Gardner A, Friend KL, Blatt I, Iacomino M, Di Bonaventura C, Striano S, Buratti J, Keren B, Nava C, Forlani S, Rudolf G, Hirsch E, Leguern E, Labauge P, Balestrini S, Sander JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gecz J2019-10-29Nature communications
Role of observational studies in supporting extrapolation of efficacy data from adults to children with epilepsy - A systematic review of the literature using lacosamide as an example.Arzimanoglou A, Kalilani L, Anamoo MA, Cooney M, Golembesky A, Taeter C, Bozorg A, Tofighy A, Wheless J2019-07-01Focal, Generalised, Paediatric, Seizures, TrialsEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Cognitive impairment and behavioral disorders in Encephalopathy related to Status Epilepticus during slow Sleep: diagnostic assessment and outcome.Arzimanoglou A, Cross HJ2019-06-01CSWS, EEG technical requirements, ESES treatment, continuous spike and waves during sleep, encephalopathy related to status epilepticus during sleepEpileptic disorders : international epilepsy journal with videotape
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.Denis J, Villeneuve N, Cacciagli P, Mignon-Ravix C, Lacoste C, Lefranc J, Napuri S, Damaj L, Villega F, Pedespan JM, Moutton S, Mignot C, Doummar D, Lion-François L, Gataullina S, Dulac O, Martin M, Gueden S, Lesca G, Julia S, Cances C, Journel H, Altuzarra C, Ben Zeev B, Afenjar A, Barth M, Villard L, Milh M2019-05-01epileptic encephalopathy, genetics, pediatrics, sodium channel blockerEpilepsia
Roadmap for a competency-based educational curriculum in epileptology: report of the Epilepsy Education Task Force of the International League Against Epilepsy.Blümcke I, Arzimanoglou A, Beniczky S, Wiebe S2019-04-01ILAE, Task Force for Epilepsy Education (EpiEd), clinical management, curriculum, diagnosis, epilepsy, teaching competency, web-basedEpileptic disorders : international epilepsy journal with videotape
Treatment delay in status epilepticus - more effective prehospital symptom recognition warranted.Sairanen JJ, Kantanen AM, Hyppölä HT, Kälviäinen RK2019-03-07Delay, Emergency, Paramedic, Seizure, Status epilepticus, TreatmentScandinavian journal of trauma, resuscitation and emergency medicine
Predictive factors and prognostic value for status epilepticus in newborns.Gokce-Samar Z, Ostrowsky-Coste K, Gauthier-Morel D, Keo-Kosal P, De Regnauld De Bellescize J, Montavont A, Panagiotakaki E, Claris O, Arzimanoglou A2019-03-01Hypoglycemia, Hypoxic-ischemic encephalopathy, Neonatal isolated seizures, Neonatal status epilepticus, Neurological examination, OutcomeEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Classification of paroxysmal events and the four-dimensional epilepsy classification system.Lüders H, Vaca GF, Akamatsu N, Amina S, Arzimanoglou A, Baumgartner C, Benbadis SR, Bleasel A, Bermeo-Ovalle A, Bozorgi A, Carreño M, Devereaux M, Francione S, Losarcos NG, Hamer H, Holthausen H, Jamal-Omidi S, Kalamangalam G, Kanner AM, Knake S, Lacuey N, Lhatoo S, Lim SH, Londoño LV, Mani J, Matsumoto R, Miller JP, Noachtar S, Palmini A, Park J, Rosenow F, Shahid A, Schuele S, Steinhoff BJ, Ákos Szabó C, Tandon N, Terada K, Boas WVE, Widdess-Walsh P, Kahane P2019-02-01classification, epileptogenic zone, etiology, semiologyEpileptic disorders : international epilepsy journal with videotape
Acquired epileptic opercular syndrome related to a heterozygous deleterious substitution in GRIN2A.Sculier C, Tilmant AS, De Tiège X, Giurgea S, Paquier P, Rudolf G, Lesca G, Van Bogaert P2017-09-01CSWS, GRIN2A, epileptic encephalopathy, language disorder, opercular syndrome, speech apraxiaEpileptic disorders : international epilepsy journal with videotape
Expert Opinion on the Management of Lennox-Gastaut Syndrome: Treatment Algorithms and Practical Considerations.Cross JH, Auvin S, Falip M, Striano P, Arzimanoglou A2017-01-01Lennox–Gastaut syndrome, algorithm, antiepileptic drug, consensus, epilepsy, epileptic and developmental encephalopathyFrontiers in neurology
Depression and Quality of Life in Patients with Epilepsy - Single Centre Experience.Petelin Gadže Ž, Tudor KI, Živković M, Bujan Kovač A, Đapić Ivančić B, Nanković S, Šulentić V, Brezak I, Nimac Kozina P, Sitaš B, Radić B, Mudrovčić M, Mijatović D, Poljaković Z, Jevtović S, Vuksanović A, Hajnšek S1970-01-01Psychiatria Danubina
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Last update: July 6th, 2024 on 01:30