An expanding view for the molecular basis of familial periodic paralysis

被引:58
作者
Cannon, SC
机构
[1] Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA
[2] Harvard Univ, Sch Med, Dept Neurobiol, Cambridge, MA 02138 USA
基金
美国国家卫生研究院;
关键词
Andersen's syndrome; ion channels; myotonia; paramyotonia; skeletal muscle;
D O I
10.1016/S0960-8966(02)00007-X
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The periodic paralyses are rare disorders of skeletal muscle characterized by episodic attacks of weakness due to intermittent failure of electrical excitability. Familial forms of periodic paralysis are all caused by mutations in genes coding for voltage-gated ion channels. New discoveries in the past 2 years have broadened our views on the diversity of phenotypes produced by mutations of a single channel gene and have led to the identification of potassium channel mutations, in addition to those previously found in sodium and calcium channels. This review focuses on the clinical features, molecular genetic defects, and pathophysiologic mechanisms that underlie familial periodic paralysis. (C) 2002 Elsevier Science B.V. All rights reserved.
引用
收藏
页码:533 / 543
页数:11
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