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Article

GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.

Scientific reports - 21 Nov 2017

Hernandez Ciria C, Zhang Yujia, Hu Ningning, Shen Dingding, Shen Wangzhen, Liu Xiaoyan, Kong Weijing, Jiang Yuwu, Macdonald Robert L

Abstract excerpt

GABAA receptors are brain inhibitory chloride ion channels. Here we show functional analyses and structural simulations for three de novo missense mutations in the GABAA receptor β3 subunit gene (GABRB3) identified in patients with early-onset epileptic encephalopathy (EOEE) and profound developmental delay. We sought to obtain insights into the molecular mechanisms that might link defects in GABAA receptor...

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Identifiers

PMID: 29162865
DOI: 10.1038/s41598-017-16010-3
PMCID: PMC5698489

Genes

GABRB3

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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