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Article

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.

Developmental medicine and child neurology - 1 Apr 2016

Papandreou Apostolos, McTague Amy, Trump Natalie, Ambegaonkar Gautam, Ngoh Adeline, Meyer Esther, Scott Richard H, Kurian Manju A

Abstract excerpt

The gamma-aminobutyric acid type A receptor β3 gene (GABRB3) encodes the β3-subunit of the gamma-aminobutyric acid type A (GABAA ) receptor, which mediates inhibitory signalling within the central nervous system. Recently, GABRB3 mutations have been identified in a few patients with infantile spasms and Lennox-Gastaut syndrome. We report the clinical and electrographic features of a novel case of GABRB3-related...

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Source

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Identifiers

PMID: 26645412
DOI: 10.1111/dmcn.12976
PMCID: PMC4864756

Genes

GABRB3

Variants

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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