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Article

A novel variant in GABRB2 associated with intellectual disability and epilepsy.

American journal of medical genetics. Part A - 1 Nov 2014

Srivastava Siddharth, Cohen Julie, Pevsner Jonathan, Aradhya Swaroop, McKnight Dianalee, Butler Elizabeth, Johnston Michael, Fatemi Ali

Abstract excerpt

The γ-aminobutyric acid type A (GABAA ) receptor is one of the three main classes of receptors activated by GABA, the principal inhibitory neurotransmitter in the central nervous system. Mutations in genes encoding various subunits of this receptor (GABRA1, GABRA2, GABRA4, GABRA5, GABRA6, GABRB1, GABRB3, GABRG1, GABRG2, GABRG3, and GABRD) are implicated in a number of neurological and developmental disorders,...

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Topics

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Share to Electroencephalography
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

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Share to Receptors, GABA-A

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Source

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Identifiers

PMID: 25124326
DOI: 10.1002/ajmg.a.36714
PMCID: PMC4205182

Genes

GABRB2
GABRA1
GABRA2
GABRA4
GABRA5
GABRA6
GABRB1
GABRB3
GABRD
GABRG1
GABRG2
GABRG3

Variants

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.

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