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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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| Auteurs principaux: | , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Blackwell Science Inc
2011
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| Sujets: | |
| Accès en ligne: | 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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