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Article

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

PloS one - 1 Jan 2016

Hernandez Ciria C, Klassen Tara L, Jackson Laurel G, Gurba Katharine, Hu Ningning, Noebels Jeffrey L, Macdonald Robert L

Abstract excerpt

Genetic epilepsies (GEs) account for approximately 50% of all seizure disorders, and familial forms include mutations in single GABAA receptor subunit genes (GABRs). In 144 sporadic GE cases (GECs), exome sequencing of 237 ion channel genes identified 520 GABR variants. Among these variants, 33 rare variants in 11 GABR genes were present in 24 GECs. To assess functional risk of variants in GECs, we selected 8...

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

Share to Ion Channel Gating

Share to Mutant Proteins

Share to Mutation, Missense

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Share to Receptors, GABA-A

Source

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Identifiers

PMID: 27622563
DOI: 10.1371/journal.pone.0162883
PMCID: PMC5021343

Genes

GABRA1
GABRB3
GABRG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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