1.A.9.5.7
GABA(A) receptor subunit alpha-3 of 492 aas and 4 TMSs, GABRA3. GABAA receptor subunits have been linked to a spectrum of benign to severe epileptic disorders. A loss of function presents a major pathomechanism. Loss increases the risk for a varying combination of epilepsy, intellectual disability/developmental delay and dysmorphic features, presenting in some pedigrees with an X-linked inheritance pattern (Niturad et al. 2017). GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.