Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.
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.
Sugiura
Y
Y
Department of Neurology, Fukushima Medical University School of Medicine, Fukushima, Japan.
Aoki
T
T
Sugiyama
Y
Y
Hida
C
C
Ogata
M
M
Yamamoto
T
T
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*
D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels