Molecular and clinical descriptions of patients with <scp>GABA<sub>A</sub></scp> receptor gene variants (<i><scp>GABRA1</scp>, <scp>GABRB2</scp>, <scp>GABRB3</scp>, <scp>GABRG2</scp></i>): A cohort study, review of literature, and genotype–phenotype correlation

Maillard, Pierre‐Yves; Baer, Sarah; Schaefer, Élise; Desnous, Béatrice; Villeneuve, Nathalie; Lépine, Anne; Fabre, Alexandre; Lacoste, Caroline; El Chehadeh, Salima; Piton, Amélie; F. Porter, Louise; Perriard, Caroline; Abi Wardé, Marie‐Thérèse; 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; Gérard, Marion; de Bellescize, Julietta; Villard, Laurent; de Saint Martin, Anne; Milh, Mathieu

doi:10.1111/epi.17336

Public

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

Published in Epilepsia • Jun 20, 2022

Authors:

Pierre‐Yves Maillard

Sarah Baer

Élise Schaefer

Abstract

Abstract 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 phenotyp...

Subject

Phenotype

Epilepsy

Gene

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