Molecular and clinical description of patients with GABA A receptor gene variants.

This multidisciplinary work, led by Pr Milh from the Human Neurogenetics team and La Timone Children's Hospital, collected clinical, electrophysiological, therapeutic, and molecular data from patients affected with GABAA receptor subunit variants (GABRA1, GABRB2, GABRB3, GABRG2) through a national French collaboration using the EPIGENE network and compared them to the one already described in the literature.