title: A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature.
abstract: One family is described with a novel SCN4A mutation, causing cold-aggravated myotonia without weakness. One affected family member had a normal needle electromyography at room temperature. Myotonic discharges were only discovered after cooling of the tested muscles.
authors.affiliation: Department of Neurology, UZ Brussel, Center for Neurosciences, Vrije universiteit Brussel (VUB), Brussels, Belgium. veronique.bissay@uzbrussel.be
authors.forename: Véronique
authors.initials: V
authors.lastname: Bissay
authors.forename: Kathelijn
authors.initials: K
authors.lastname: Keymolen
authors.forename: Willy
authors.initials: W
authors.lastname: Lissens
authors.forename: Eric
authors.initials: E
authors.lastname: Schmedding
authors.forename: Jacques
authors.initials: J
authors.lastname: De Keyser
mesh_terms: D000328:Adult; D002648:Child; D003080:Cold Temperature / Q000009:adverse effects*; D004576:Electromyography / Q000379:methods; D005080:Exercise Test / Q000379:methods; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009222:Myotonia / Q000175:diagnosis* / Q000235:genetics*; D062553:NAV1.4 Voltage-Gated Sodium Channel; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels