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Article

Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.

Journal of medical genetics - 1 Jun 2006

Trudeau M M, Dalton J C, Day J W, Ranum L P W, Meisler M H

Abstract excerpt

BACKGROUND: The 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. METHODS: We screened the 26 coding exons of SCN8A in 151 patients with inherited or sporadic ataxia. RESULTS: A 2 bp deletion in exon 24 was identified in a 9 year old boy...

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Identifiers

PMID: 16236810
DOI: 10.1136/jmg.2005.035667
PMCID: PMC2564538

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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