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

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...

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Bibliographic Details
Main Authors: Nayeli G. Reyes-Nava, Hung-Chun Yu, Curtis R. Coughlin, Tamim H. Shaikh, Anita M. Quintana
Format: Article
Language:English
Published: The Company of Biologists 2020-04-01
Series:Biology Open
Subjects:
Online Access:http://bio.biologists.org/content/9/4/bio051367