Functional analysis of epilepsy‐associated GABAA receptor mutations using Caenorhabditis elegans
Ami Gadhia,
Eleanor Barker,
Alan Morgan
et al.
Abstract:ObjectiveGABAA 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.MethodsCRISPR‐Cas9 gene editing was used to create a complete deletion of unc‐49, a C. elegans GABAA receptor, and to create homozygous epilepsy‐associated mutations in the endogenous unc‐49 gene. T… Show more
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