Figure 1:

Biallelic inheritance of DEE in two families, and the protein location of the novel variants. A) Individuals affected with DEE (epilepsy plus severe ID) are compound heterozygotes for inherited variants of SCN8A. Heterozygous parents exhibit mild cognitive deficits. Sanger sequencing of genomic DNA demonstrated inheritance of two mutant alleles by individuals affected with DEE (epilepsy with severe ID) and a single variant in heterozygous carriers with mild cognitive deficits. B) Location of four novel variants in the voltage-gated sodium channel SCN8A. Solid symbols, complete loss of function; open symbols, partial loss of function.