Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.
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Sugiura Y, Aoki T, Sugiyama Y, Hida C, Ogata M, Yamamoto T
Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.
Neurology. 2000 Jun 13;54(11):2179-81.
- PubMed ID
- 10851391 [ View in PubMed]
- 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.