title: Channelopathy: a novel mutation in the SCN9A gene causes insensitivity to pain and autonomic dysregulation.
authors.affiliation: Department of Dermatology, Stanford University School of Medicine, 700 Welch Road, Suite 301; MC 5896, Palo Alto, CA, 94304, U.S.A.
authors.forename: F
authors.initials: F
authors.lastname: Bartholomew
authors.forename: J
authors.initials: J
authors.lastname: Lazar
authors.forename: A
authors.initials: A
authors.lastname: Marqueling
authors.forename: C
authors.initials: C
authors.lastname: Lee-Messer
authors.forename: S
authors.initials: S
authors.lastname: Jaradeh
authors.forename: J M C
authors.initials: JM
authors.lastname: Teng
mesh_terms: D001342:Autonomic Nervous System Diseases / Q000235:genetics*; D053447:Channelopathies / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007007:Hypohidrosis / Q000235:genetics; D007223:Infant; D062556:NAV1.7 Voltage-Gated Sodium Channel / Q000235:genetics*; D000699:Pain Insensitivity, Congenital / Q000235:genetics*; D012008:Recurrence; D012652:Self Mutilation / Q000235:genetics; D012883:Skin Ulcer / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D062556:NAV1.7 Voltage-Gated Sodium Channel; C486866:SCN9A protein, human