Table 1: GABA-related mutations linked with seizures.

GABA-related mutations Species Epilepsy type Age at first observation Ref. GABAA receptor mutations GABRA1 Human ADJME, CAE Childhood, Juvenile [47, 48] GABRA6 Human CAE Childhood [49] GABRB3 Human CAE Childhood [50–52] GABRD Human ADJME Juvenile [53] GABRE Human Febrile, ADEFS+ IGE Infantile, childhood [49] GABRG2 Human, mouse CAE+ Febrile, ADEFS+, SMEI ADEFS+, SMEI, Febrile Infantile, childhood [54–59] GABRP Human IGE, ADEFS+, Febrile ? [49] Other mutations GAD65 knockout Mouse Stress-induced, Limbic seizures 12 weeks [60, 61] ARX mutations Human, mice Early life epileptic encephalopathies (infantile spasms, Ohtahara) Neonatal, Infantile [62–66]