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Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families

Fig 1

Pedigrees of six Japanese 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. ā€œPā€ 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.

Fig 1