title: Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.
abstract: The authors report a Japanese family with dominantly inherited heat-induced myotonia and cold-induced paralysis with hypokalemia. This phenotype is associated with a novel mutation in the voltage-dependent skeletal muscle sodium channel alpha subunit (SCN4A). This Pro1158Ser mutation is localized between the fourth and fifth transmembrane segments of domain III in SCN4A and may give rise to a new function; that is, thermosensitive permeability changes of the sodium channel.
authors.affiliation: Department of Neurology, Fukushima Medical University School of Medicine, Fukushima, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Sugiura
authors.forename: T
authors.initials: T
authors.lastname: Aoki
authors.forename: Y
authors.initials: Y
authors.lastname: Sugiyama
authors.forename: C
authors.initials: C
authors.lastname: Hida
authors.forename: M
authors.initials: M
authors.lastname: Ogata
authors.forename: T
authors.initials: T
authors.lastname: Yamamoto
mesh_terms: D000328:Adult; D003080:Cold Temperature / Q000009:adverse effects; D006358:Hot Temperature; D006801:Humans; D007008:Hypokalemia / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D009222:Myotonia / Q000235:genetics*; D062553:NAV1.4 Voltage-Gated Sodium Channel; D010243:Paralysis / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D012621:Seasons; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels