GABRA1 and epilepsy: Mutations of GABRA1/2/3/5, GABRB1/2/3 and GABRD, which encode the α1,2,3,5, β1,2,3 and δ subunits, respectively, have also been implicated in a spectrum of epilepsies, including severe DEEs, although variants of GABRA1 and GABRB2/3 mutations are most frequently encountered which likely reflects the prevalence of their expression in the CNS (Absalom et al., 2023).