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Article

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

Brain : a journal of neurology - 1 Aug 2018

Butler Kameryn M, Moody Olivia A, Schuler Elisabeth, Coryell Jason, Alexander John J, Jenkins Andrew, Escayg Andrew

Abstract excerpt

GABAA receptors are ligand-gated anion channels that are important regulators of neuronal inhibition. Mutations in several genes encoding receptor subunits have been identified in patients with various types of epilepsy, ranging from mild febrile seizures to severe epileptic encephalopathy. Using whole-genome sequencing, we identified a novel de novo missense variant in GABRA5 (c.880G > C, p.V294L) in a patient...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 29961870
DOI: 10.1093/brain/awy171
PMCID: PMC6061692

Genes

GABRA2
GABRA5
GABRB3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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