The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits.
Overview publication
| Title | The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits. |
| Date | 2022-09-01 |
| Issue name | Epilepsia |
| Issue number | v63.9:2439-2441 |
| DOI | 10.1111/epi.17358 |
| PubMed | 35781801 |
| Authors | |
| Read | Read publication |