Episodic ataxia and myokymia syndrome: A new mutation of potassium channel gene Kv1.1

被引：52

作者：

Comu, S

Giuliani, M

Narayanan, V

机构：

[1] UNIV PITTSBURGH,DEPT PEDIAT,PITTSBURGH,PA 15260

[2] UNIV PITTSBURGH,DEPT NEUROL,PITTSBURGH,PA 15260

来源：

ANNALS OF NEUROLOGY | 1996年 / 40卷 / 04期

关键词：

D O I：

10.1002/ana.410400422

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Episodic ataxia aad myokymia syndrome is an autosomal dominant disorder characterized by persistent myokymia and attacks of unsteadiness, slurred speech, and tremulousness. This disease has been associated with point mutations in the potassium channel gene Kv1.1 (KCNA1), located at chromosome 12p13. Here, we describe a novel mutation within this gene in a newly diagnosed family.

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页码：684 / 687

页数：4

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