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...
Main Authors: | , , , , |
---|---|
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 |