The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits.
Philip Kiaer AhringVivian Wan Yu LiaoSusan X N LinNathan L AbsalomMary ChebibRikke Steensjerre MollerPublished in: Epilepsia (2022)