Altered GABA Signaling in Early Life Epilepsies

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]