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In vivo mouse model of the epileptic encephalopathy mutation SCN8A-N1768D. Knock-in of the patient mutation6 results in seizures and death in 50% of heterozygous D/+ animals. Combination with a null allele (D/−) or homozygosity of the mutant allele (D/D) exacerbates the phenotype, demonstrating partial protection by the wildtype allele in heterozygous animals9.
