Article
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Epilepsia - 1 Oct 2022
Maillard Pierre-Yves, Baer Sarah, Schaefer Élise, Desnous Béatrice, Villeneuve Nathalie, Lépine Anne, Fabre Alexandre, Lacoste Caroline, El Chehadeh Salima, Piton Amélie, Porter Louise Frances, Perriard Caroline, Wardé Marie-Thérèse Abi, Spitz Marie-Aude, Laugel Vincent, Lesca Gaëtan, Putoux Audrey, Ville Dorothée, Mignot Cyril, Héron Delphine, Nabbout Rima, Barcia Giulia, Rio Marlène, Roubertie Agathe, Meyer Pierre, Paquis-Flucklinger Véronique, Patat Olivier, Lefranc Jérémie, Gerard Marion, de Bellescize Julietta, Villard Laurent, De Saint Martin Anne, Milh Mathieu
Abstract excerpt
OBJECTIVE: γ-Aminobutyric acid (GABA)A -receptor subunit variants have recently been associated with neurodevelopmental disorders and/or epilepsy. The phenotype linked with each gene is becoming better known. Because of the common molecular structure and physiological role of these phenotypes, it seemed interesting to describe a putative phenotype associated with GABAA -receptor-related disorders as a whole and...
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