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Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation
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...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BMJ Group
2006
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| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2564538/ https://ncbi.nlm.nih.gov/pubmed/16236810 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.035667 |
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