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.

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 phenotypes, it seemed interesting to describe a putative phenotype associated with GABA_A -receptor-related disorders as a whole and seek possible genotype-phenotype correlations.

Methods

We collected clinical, electrophysiological, therapeutic, and molecular data from patients with GABA_A -receptor subunit variants (GABRA1, GABRB2, GABRB3, and GABRG2) through a national French collaboration using the EPIGENE network and compared these data to the one already describe

SUBMITTER: Maillard PY 

PROVIDER: S-EPMC9804453 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature