Article
A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 1 Oct 1996
Kohrman D C, Smith M R, Goldin A L, Harris J, Meisler M H
Abstract excerpt
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 jolting mutant, a mild allele of the "motor endplate disease" locus. The jolting mutation results in substitution of Thr for an evolutionarily conserved Ala residue in the cytoplasmic S4-S5 linker of domain III. Introduction of the...
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