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pubmed-article:16236810pubmed:abstractTextThe SCN8A gene on chromosome 12q13 encodes the voltage gated sodium channel Na(v)1.6, which is widely expressed in neurons of the CNS and PNS. Mutations in the mouse ortholog of SCN8A result in ataxia and other movement disorders.lld:pubmed
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pubmed-article:16236810pubmed:articleTitleHeterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.lld:pubmed
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