Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families
(A) Some a)Family 2 and b)Family 3 members have been reported previously [13, 14]. Black and white symbols indicate affected and unaffected individuals, respectively. Gray symbols indicate individuals with unknown phenotypic status. Squares and circles indicate males and females, respectively. Slashes indicate deceased individuals. “P” indicates probands. Blue arrows indicate exome sequenced individuals. * indicates linkage analysis performed individuals. The genotype of SCN11A p.R222H (Family 1, 2, 4, 5 and 6) or SCN11A p.R222S (Family 3) for each individual is illustrated. (B) Sequence chromatography of the identified SCN11A mutations.