Article

Abnormal expression of GABA <sub>A</sub> receptor sub-units and hypomotility upon loss of <i>gabra1</i> in zebrafish

2020-02-01

Abstract excerpt

<h4>ABSTRACT</h4> 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). GABRA 1 encodes the alpha subunit of the Gamma-Aminobutyric Acid receptor A (GABA A R). The GABA A R is a ligand gated ion channel that mediates the fast i...

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Literature Corpus work: cfd642ba-9696-5468-bc7e-4fdfa48cfed3
DOI: 10.1101/2020.01.31.929455

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