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Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis

From the Department of Neurology, Fukushima Medical University School of Medicine, Fukushima, Japan.

Address correspondence and reprint requests to Dr. Teiji Yamamoto, Department of Neurology, Fukushima Medical University, 1 Hikarigaoka, Fukushima 960-1295, Japan; e-mail: yamamoto{at}fmu.ac.jp

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 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.

Key words: SCN4A—Hypokalemic periodic paralysis—Myotonia—Paramyotonia—Pro1158Ser.

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