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Article

GABAA Receptor β3 Subunit Mutation N328D Heterozygous Knock-in Mice Have Lennox-Gastaut Syndrome.

International journal of molecular sciences - 8 May 2023

Nwosu Gerald Ikemefuna, Shen Wangzhen, Zavalin Kirill, Poliquin Sarah, Randhave Karishma, Flamm Carson, Biven Marshall, Langer Katherine, Kang Jing-Qiong

Abstract excerpt

Lennox-Gastaut Syndrome (LGS) is a developmental and epileptic encephalopathy (DEE) characterized by multiple seizure types, electroencephalogram (EEG) patterns, and cognitive decline. Its etiology has a prominent genetic component, including variants in GABRB3 that encodes the GABAA receptor (GABAAR) β3 subunit. LGS has an unknown pathophysiology, and few animal models are available for studying LGS. The...

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Source

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Identifiers

PMID: 37176165
DOI: 10.3390/ijms24098458
PMCID: PMC10179596

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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