Abnormal expression of GABA_A receptor subunits and hypomotility upon loss of gabra1 in zebrafish.

ABSTRACT: We used whole-exome sequencing (WES) to determine the genetic etiology of a patient with a multi-system disorder characterized by a seizure phenotype. WES identified a heterozygous de novo missense mutation in the GABRA1 gene (c.875C>T). GABRA1 encodes the alpha subunit of the gamma-aminobutyric acid receptor A (GABA_AR). The GABA_AR is a ligand gated ion channel that mediates the fast inhibitory signals of the nervous system, and mutations in the subunits that compose the GABA_AR have been previously associated with human disease. To understand the mechanisms by which GABRA1 regulates brain development, we developed a zebrafish model of gabra1 deficiency. gabra1 expression is restricted to the nervous system an

SUBMITTER: Reyes-Nava NG 

PROVIDER: S-EPMC7197724 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature