A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.
Rajakulendran
S
S
Medical Research Council Centre for Neuromuscular Disease, Queen Square, London, WC1N 3BG, UK.
Tan
S V
SV
Matthews
E
E
Tomlinson
S E
SE
Labrum
R
R
Sud
R
R
Kullmann
D M
DM
Schorge
S
S
Hanna
M G
MG
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*
C496946:KCNA1 protein, human; D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels; D051662:Kv1.1 Potassium Channel