New calcium channel mutations predict aberrant RNA splicing in episodic ataxia

被引：27

作者：

Eunson, LH ^{[1
]}

Graves, TD ^{[1
]}

Hanna, MG ^{[1
]}

机构：

[1] UCL, Neurol Inst, Dept Mol Neurosci, London WC1N 3BG, England

来源：

NEUROLOGY | 2005年 / 65卷 / 02期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1212/01.wnl.0000169020.82223.dd

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Episodic ataxia type 2 (EA2) is an autosomal dominant channelopathy characterized by paroxysmal cerebellar ataxia. Previous studies suggest that most EA2 cases are associated with mutations in the alpha(1A) subunit of the P/Q-type voltage-gated calcium channel gene CACNA1A. In a UK national study, the authors analyzed 15 index cases with typical EA2 and identified two unreported intronic mutations that predict aberrant splicing.

引用

页码：308 / 310

页数：3

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