Open access
Oct 2026
A homozygous GABRA2 variant associated with infantile spasms evolving to Lennox-Gastaut syndrome alters receptor gating.
Variants in GABAA receptor subunits are increasingly implicated in developmental and epileptic encephalopathies. Although GABRA2 variants have been associated with early-onset epilepsy, the functional consequences of individual variants, particularly those located outside canonical ligand-binding and transmembrane pore...
J. De Waele, Marcelo Diaz-Bustamante, Najat Aourz et al.
· Neurobiology of Disease · 0 citations