Mutant GABAA receptor subunits in genetic (idiopathic) epilepsy

S Hirose - Progress in brain research, 2014 - Elsevier
The γ-aminobutyric acid receptor type A (GABA A receptor) is a ligand-gated chloride
channel that mediates major inhibitory functions in the central nervous system. GABA A
receptors function mainly as pentamers containing α, β, and either γ or δ subunits. A number
of antiepileptic drugs have agonistic effects on GABA A receptors. Hence, dysfunctions of
GABA A receptors have been postulated to play important roles in the etiology of epilepsy. In
fact, mutations or genetic variations of the genes encoding the α1, α6, β2, β3, γ2, or δ …