Neurology. 2000 Jun 13;54(11):2179-81.
Temperature-sensitive sodium channelopathy with heat-induced myotonia and
cold-induced paralysis.
Sugiura Y, Aoki T, Sugiyama Y, Hida C, Ogata M, Yamamoto T.
Department of Neurology, Fukushima Medical University School of Medicine,
Fukushima, Japan.
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.
Publication Types:
Case Reports
PMID: 10851391
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