title: Late onset painful cold-aggravated myotonia: three families with SCN4A L1436P mutation.
abstract: We describe three Belgian families with a L1436P mutation in the SCN4A gene, causing a sodium channel myotonia with an atypical clinical presentation, characterized by late onset painful cold-aggravated myotonia. These families represent a distinct phenotype within the spectrum of sodium channel myotonia.
authors.affiliation: Department of Neurology, UZ Brussel, Vrije Universiteit Brussel (VUB), 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: Guy
authors.initials: G
authors.lastname: Laureys
authors.forename: Eric
authors.initials: E
authors.lastname: Schmedding
authors.forename: Jacques
authors.initials: J
authors.lastname: De Keyser
mesh_terms: D000086:Acetazolamide / Q000627:therapeutic use; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000639:Amitriptyline / Q000627:therapeutic use; D000927:Anticonvulsants / Q000627:therapeutic use; D001530:Belgium; D002220:Carbamazepine / Q000627:therapeutic use; D003080:Cold Temperature / Q000009:adverse effects*; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009222:Myotonia / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics*; D062553:NAV1.4 Voltage-Gated Sodium Channel; D010146:Pain / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics*; D010641:Phenotype; D015222:Sodium Channels / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D000927:Anticonvulsants; D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels; D000639:Amitriptyline; D002220:Carbamazepine; D000086:Acetazolamide