Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Biology open - 13 Apr 2020

Reyes-Nava Nayeli G, Yu Hung-Chun, Coughlin Curtis R, Shaikh Tamim H, Quintana Anita M

Abstract excerpt

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 (GABAAR). The GABAAR is a ligand gated ion channel that mediates the fast inhibitory signals of the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Gene Expression
Share to Gene Knockdown Techniques

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Locomotion

Share to Motor Activity

Share to Protein Subunits

Share to Receptors, GABA-A

Share to Zebrafish

Source

Open in PubMed Open full text

Identifiers

PMID: 32205311
DOI: 10.1242/bio.051367
PMCID: PMC7197724

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish.PMID 32205311Read ↗

Abnormal expression of GABA <sub>A</sub> receptor sub-units and hypomotility upon loss of <i>gabra1</i> in zebrafishSemantic proximity Read ↗

Characterization of the zebrafish gabra1sa43718/sa43718 germline loss of function allele confirms a function for Gabra1 in motility and nervous system development.Semantic proximity Read ↗

Characterization of the zebrafish <i> gabra1 <sup>sa43718/sa43718</sup> </i> germline loss of function allele confirms a function for Gabra1 in motility and nervous system developmentSemantic proximity Read ↗

An epileptic encephalopathy associated GABRG2 missense mutation leads to pre- and postsynaptic defects in zebrafish.Semantic proximity Read ↗

De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.Semantic proximity Read ↗

Development of a floxed Gabbr2 gene allows for widespread conditional disruption of GABBR2 and recapitulates the phenotype of germline Gabbr2 knockout mice.Semantic proximity Read ↗

Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.Semantic proximity Read ↗

Mutations in GABAA receptor subunits associated with genetic epilepsies.Semantic proximity Read ↗

Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy.Semantic proximity Read ↗

Development of a floxed <i>Gabbr2</i> gene allows for widespread conditional disruption of GABBR2 and recapitulates the phenotype of germline Gabbr2 knockout miceSemantic proximity Read ↗

The genetic and phenotypic spectrum of GABRB1-related disorders.Semantic proximity Read ↗

<i>Gabra2</i> is a genetic modifier of Dravet syndrome in miceSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.