title: A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.
authors.affiliation: Medical Research Council Centre for Neuromuscular Disease, Queen Square, London, WC1N 3BG, UK.
authors.forename: S
authors.initials: S
authors.lastname: Rajakulendran
authors.forename: S V
authors.initials: SV
authors.lastname: Tan
authors.forename: E
authors.initials: E
authors.lastname: Matthews
authors.forename: S E
authors.initials: SE
authors.lastname: Tomlinson
authors.forename: R
authors.initials: R
authors.lastname: Labrum
authors.forename: R
authors.initials: R
authors.lastname: Sud
authors.forename: D M
authors.initials: DM
authors.lastname: Kullmann
authors.forename: S
authors.initials: S
authors.lastname: Schorge
authors.forename: M G
authors.initials: MG
authors.lastname: Hanna
mesh_terms: D000200:Action Potentials / Q000235:genetics; D000328:Adult; D001259:Ataxia / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004576:Electromyography; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D051662:Kv1.1 Potassium Channel / Q000235:genetics*; D009119:Muscle Contraction / Q000235:genetics; D009120:Muscle Cramp / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D018908:Muscle Weakness / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D020385:Myokymia / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D020967:Myotonic Disorders / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D062553:NAV1.4 Voltage-Gated Sodium Channel; D015222:Sodium Channels / Q000235:genetics*
chemical_list: C496946:KCNA1 protein, human; D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels; D051662:Kv1.1 Potassium Channel