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Case Reports
. 2000 Jun 13;54(11):2179-81.
doi: 10.1212/wnl.54.11.2179.

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

Y Sugiura  1 , T Aoki, Y Sugiyama, C Hida, M Ogata, T Yamamoto
Affiliations
Case Reports

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

Y Sugiura et al. Neurology. .

Abstract

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.

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