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A Missense Mutation in the Sodium Channel Scn8a Is Responsible for Cerebellar Ataxia in the Mouse Mutant jolting

The voltage-gated sodium channel Scn8a is broadly distributed in brain and spinal cord. We have identified a missense mutation in Scn8a that is associated with cerebellar ataxia in the joltingmutant, a mild allele of the “motor endplate disease” locus. Thejolting mutation results in substitution of...

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Detalhes bibliográficos
Publicado no:J Neurosci
Main Authors: Kohrman, David C., Smith, Marianne R., Goldin, Alan L., Harris, John, Meisler, Miriam H.
Formato: Artigo
Idioma:Inglês
Publicado em: Society for Neuroscience 1996
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6579185/
https://ncbi.nlm.nih.gov/pubmed/8815882
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.16-19-05993.1996
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