Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice

In a chemical mutagenesis screen, we identified the novel Scn8a(8J) allele of the gene encoding the neuronal voltage-gated sodium channel Na(v)1.6. The missense mutation V929F in this allele alters an evolutionarily conserved residue in the pore loop of domain 2 of Na(v)1.6. Electroencephalography (...

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Main Authors: Papale, Ligia A., Beyer, Barbara, Jones, Julie M., Sharkey, Lisa M., Tufik, Sergio, Epstein, Michael, Letts, Verity A., Meisler, Miriam H., Frankel, Wayne N., Escayg, Andrew
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2009
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2667290/
https://ncbi.nlm.nih.gov/pubmed/19254928
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp081
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