Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families
Haplotypes in Family 1, 2, 4, 5, and 6 are shown for five SCN11A variants (R222H, P308L, C546C, V909I, and T1609I) and two microsatellite markers flanking SCN11A (D3S1277 [Position: 34,614,226 bp, NCBI build 38.2] and D3S1289 [Position: 54,445,451 bp, NCBI build 38.2]; determined in Family 1 and 2). Variant genotypes were determined by exome analysis or direct sequencing. Microsatellite marker genotypes were determined using the ABI Prism Linkage Mapping Set. Three different haplotypes carrying R222H are represented in orange, blue, and green boxes. Red characters show the minor R222H allele. Blue characters show genotypes not shared by the other families.