Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice.

Hum Mol Genet · 2009 · PMC2667290 · PMID 19254928

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Although the C3HeB/FeJ strain has a low incidence of SWD ( 18 , 31 ), in the present crosses there was a highly significant difference in the incidence of SWD between Scn8a 8J heterozygotes and their wild-type littermates, indicating a major gene effect of Scn8a 8J (Fig. 3 , G 3 × C3HeB/FeJ; P = 7.0 × 10 −5 ).

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