Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene.

(Seizure, v83:169-171)
Read publication

Overview publication

TitleEpilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene.
Date2020-12-01
Issue nameSeizure
Issue numberv83:169-171
DOI10.1016/j.seizure.2020.10.016
PubMed33161245
AuthorsMastrangelo V, Minardi R, Baroni MC, Severi G, Ambrosini E, Toni F, Alvisi L, Licchetta L, Bisulli F, Tinuper P & Mostacci B
KeywordsGeneralized epilepsy, Jeavons syndrome, Macrocephaly, NSD1, Overgrowth
Read Read publication