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In a chemical mutagenesis screen, we identified the novelScn8a   8Jallele of the gene encoding the neuronal voltage-gated sodium channel Nav1.6. The missense mutation V929F in this allele alters an evolutionarily conserved residue in the pore loop of domain 2 of Nav1.6. Electroencephalography (EEG) revealed well-defined spike-wave discharges (SWD), the hallmark of absence epilepsy, inScn8a   8Jheterozygotes and in heterozygotes for two classicalScn8aalleles,Scn8a   med(null) andScn8a   med-jo(missense). Mouse strain background had a significant effect on SWD, with mutants on the C3HeB/FeJ strain showing a higher incidence than on C57BL/6J. The abnormal EEG patterns in heterozygous mutant mice and the influence of genetic background on SWD makeSCN8Aan attractive candidate gene for common human absence epilepsy, a genetically complex disorder.

human molecular genetics

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