Article
Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6).
Human molecular genetics - 15 Oct 2002
Kearney Jennifer A, Buchner David A, De Haan Georgius, Adamska Maja, Levin Stephen I, Furay Amy R, Albin Roger L, Jones Julie M, Montal Mauricio, Stevens Martin J, Sprunger Leslie K, Meisler Miriam H
Abstract excerpt
Scn8a encodes an abundant, widely distributed voltage-gated sodium channel found throughout the central and peripheral nervous systems. Mice with different mutant alleles of Scn8a provide models of the movement disorders ataxia, dystonia, tremor and progressive paralysis. We previously reported that the phenotype of the hypomorphic allele of Scn8a, medJ, is dependent upon an unlinked modifier locus, Scnm1. Strain...
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