Table 1: GABA-related mutations linked with seizures.

GABA-related mutationsSpeciesEpilepsy typeAge at first observationRef.

GABAA receptor mutations

GABRA1HumanADJME, CAEChildhood, Juvenile [47, 48]
GABRA6HumanCAEChildhood[49]
GABRB3HumanCAEChildhood [5052]
GABRDHumanADJMEJuvenile [53]
GABREHumanFebrile, ADEFS+ IGEInfantile, childhood[49]
GABRG2Human, mouseCAE+ Febrile, ADEFS+, SMEI ADEFS+, SMEI, FebrileInfantile, childhood [5459]
GABRPHumanIGE, ADEFS+, Febrile?[49]

Other mutations

GAD65 knockoutMouseStress-induced, Limbic seizures12 weeks[60, 61]
ARX mutationsHuman, miceEarly life epileptic encephalopathies (infantile spasms, Ohtahara)Neonatal, Infantile [6266]