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dc.contributor.authorPapale, Ligia Assumpção [UNIFESP]
dc.contributor.authorBeyer, Barbara
dc.contributor.authorJones, Julie M.
dc.contributor.authorSharkey, Lisa M.
dc.contributor.authorTufik, Sergio [UNIFESP]
dc.contributor.authorEpstein, Michael
dc.contributor.authorLetts, Verity A.
dc.contributor.authorMeisler, Miriam H.
dc.contributor.authorFrankel, Wayne N.
dc.contributor.authorEscayg, Andrew
dc.identifier.citationHuman Molecular Genetics. Oxford: Oxford Univ Press, v. 18, n. 9, p. 1633-1641, 2009.
dc.description.abstractIn 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 (EEG) revealed well-defined spike-wave discharges (SWD), the hallmark of absence epilepsy, in Scn8a(8J) heterozygotes and in heterozygotes for two classical Scn8a alleles, Scn8a(med) (null) and Scn8a(med-jo) (missense). Mouse strain background had a significant effect on SWD, with mutants on the C3HeB/FeJ strain showing a higher incidence than on C57BL/6J. the abnormal EEG patterns in heterozygous mutant mice and the influence of genetic background on SWD make SCN8A an attractive candidate gene for common human absence epilepsy, a genetically complex disorder.en
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.publisherOxford Univ Press
dc.relation.ispartofHuman Molecular Genetics
dc.rightsAcesso aberto
dc.titleHeterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in miceen
dc.contributor.institutionJackson Lab
dc.contributor.institutionEmory Clin
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniv Michigan
dc.description.affiliationJackson Lab, Bar Harbor, ME 04609 USA
dc.description.affiliationEmory Clin, Dept Human Genet, Atlanta, GA 30322 USA
dc.description.affiliationUniversidade Federal de São Paulo, Dept Psychobiol, São Paulo, Brazil
dc.description.affiliationUniv Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Psychobiol, São Paulo, Brazil
dc.description.sponsorshipIDNIH: NS31348
dc.description.sponsorshipIDNIH: NS32801
dc.description.sponsorshipIDNIH: NS34509
dc.description.sponsorshipIDNIH: NS046484
dc.description.sponsorshipIDFAPESP: 07/50534-0
dc.description.sponsorshipIDFAPESP: 98/14303-3
dc.description.sourceWeb of Science

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