Referenced in: none

Automatically associated channels: Nav1.4

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

Authors: Y Sugiura, T Aoki, Y Sugiyama, C Hida, M Ogata, T Yamamoto

Journal, date & volume: Neurology, 2000 Jun 13 , 54, 2179-81

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/10851391

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.