Key result
Heterozygous mutations in the voltage-gated sodium channel gene Scn8a are associated with a significantly higher incidence of spike-wave discharges in mice compared to wild-type littermates.
Absolute Event Rate: 156% vs 31.8%
p-value: p=0.002
Heterozygous mutations in the Scn8a gene cause spike-wave discharges in mice, suggesting SCN8A as a candidate gene for human absence epilepsy.
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SCN8A may be a candidate gene for absence epilepsy; leaves open translation from mice to patients.
Papale et al. (2009) studied Absence epilepsy. Heterozygous Scn8a mutations vs. Wild-type littermates was evaluated on Incidence of spike-wave discharges (SWD) (p=0.002). Heterozygous mutations in the voltage-gated sodium channel gene Scn8a are associated with a significantly higher incidence of spike-wave discharges in mice compared to wild-type littermates.
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