Fig. 3From: A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case reportCharacterization of SCN8A (c.3953A > G) mutation. a Sanger sequencing confirms SCN8A (c.3953A > G) mutation. b The down-stream altered amino acid caused by the missense mutation is in a highly-conserved area. c This mutation is located in the internal S4-S5 linker of the DIII of SCN8A proteinBack to article page