Ahring PK, Liao VWY, Lin S, Absalom NL, et al. The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits. Epilepsia 2022 Jul 4. doi: 10.1111/epi.17358.
PMID: 35781801