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Article

Functional analysis of epilepsy-associated GABAA receptor mutations using Caenorhabditis elegans.

Epilepsia open - 1 Aug 2024

Gadhia Ami, Barker Eleanor, Morgan Alan, Barclay Jeff W

Abstract excerpt

OBJECTIVE: GABAA receptor subunit mutations pose a significant risk for genetic generalized epilepsy; however, there are over 150 identified variants, many with unknown or unvalidated pathogenicity. We aimed to develop in vivo models for testing GABAA receptor variants using the model organism, Caenorhabditis elegans. METHODS: CRISPR-Cas9 gene editing was used to create a complete deletion of unc-49, a C. elegans...

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Identifiers

PMID: 38813985
DOI: 10.1002/epi4.12982
PMCID: PMC11296113

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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