Pathogenicity assessment of 9 missense mutations and 2 tolerated amino acid substitutions.

*For conservative analysis, “+” indicates the amino acid residue is highly conserved and “−” indicated it is less conserved.†For SIFT analysis, “+” indicates the variant affect protein function and “−” indicated that it is tolerated.‡The variants were classified into 7 groups (class 0, class 15, class 25, class 35, class 45, class 55 and class 65) ranging from least likely (class 0) to most likely (class 65) to interfere the protein function (http://agvgd.iarc.fr/classifiers.php).D1–D4: four homologous domains of SCN1A; S1–S6: six transmembrane segments in the four domains of SCN1A; EC: extracellular cadherin domain of PCDH19; NAP: nucleosome assembly protein domain of TSPYL4.