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

被引：30

作者：

Sugiura, Y ^{[1
]}

Aoki, T ^{[1
]}

Sugiyama, Y ^{[1
]}

Hida, C ^{[1
]}

Ogata, M ^{[1
]}

Yamamoto, T ^{[1
]}

机构：

[1] Fukushima Med Univ, Sch Med, Dept Neurol, Fukushima 9601295, Japan

来源：

NEUROLOGY | 2000年 / 54卷 / 11期

关键词：

SCN4A; hypokalemic periodic paralysis; myotonia; paramytonia; Pro1158Ser;

D O I：

10.1212/WNL.54.11.2179

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：2179 / 2181

页数：3

共 9 条

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