title: Autonomic dysfunction in SCN9A-associated primary erythromelalgia.
abstract: Primary erythromelalgia (EM) is an autosomal dominant disorder caused by mutations of SCN9A. It is clinically characterized by reddish discoloration and episodic burning sensation of distal extremities triggered by warmth. We report a 49-year-old male with primary EM caused by SCN9A mutation (p.F216S), in whom an autonomic reflex screening test revealed a mild sudomotor dysfunction.
authors.affiliation: Pusan National University School of Medicine, Pusan, Republic of Korea.
authors.forename: Min-Kyeong
authors.initials: MK
authors.lastname: Kim
authors.forename: Ji-Won
authors.initials: JW
authors.lastname: Yuk
authors.forename: Hyang-Sook
authors.initials: HS
authors.lastname: Kim
authors.forename: Ki-Jong
authors.initials: KJ
authors.lastname: Park
authors.forename: Dae-Seong
authors.initials: DS
authors.lastname: Kim
mesh_terms: D001342:Autonomic Nervous System Diseases / Q000150:complications* / Q000235:genetics*; D001483:Base Sequence; D004916:Erythromelalgia / Q000150:complications* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D062556:NAV1.7 Voltage-Gated Sodium Channel / Q000235:genetics*; D010375:Pedigree
chemical_list: D062556:NAV1.7 Voltage-Gated Sodium Channel; C486866:SCN9A protein, human