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

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 s...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804453/
https://www.ncbi.nlm.nih.gov/pubmed/35718920
http://dx.doi.org/10.1111/epi.17336

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