Article
Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice.
Human molecular genetics - 1 May 2009
Papale Ligia A, Beyer Barbara, Jones Julie M, Sharkey Lisa M, Tufik Sergio, Epstein Michael, Letts Verity A, Meisler Miriam H, Frankel Wayne N, Escayg Andrew
Abstract excerpt
In a chemical mutagenesis screen, we identified the novel Scn8a(8J) allele of the gene encoding the neuronal voltage-gated sodium channel Na(v)1.6. The missense mutation V929F in this allele alters an evolutionarily conserved residue in the pore loop of domain 2 of Na(v)1.6. Electroencephalograph...
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