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The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters α6β2γ2 and α6β2δ GABA(A) receptor channel gating and expression

ABSTRACT: A GABA(A) receptor α6 subunit mutation, R46W, was identified as a susceptibility gene that may contribute to the pathogenesis of childhood absence epilepsy (CAE), but the molecular basis for alteration of GABA(A) receptor function is unclear. The R46W mutation is located in a region homolo...

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Detalhes bibliográficos
Main Authors: Hernandez, Ciria C, Gurba, Katharine N, Hu, Ningning, Macdonald, Robert L
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Science Inc 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3249055/
https://ncbi.nlm.nih.gov/pubmed/21930603
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/jphysiol.2011.218883
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