EPISODIC ATAXIA MYOKYMIA SYNDROME IS ASSOCIATED WITH POINT MUTATIONS IN THE HUMAN POTASSIUM CHANNEL GENE, KCNA1
EPISODIC ATAXIA MYOKYMIA SYNDROME IS ASSOCIATED WITH POINT MUTATIONS IN THE HUMAN POTASSIUM CHANNEL GENE, KCNA1
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DOI：
10.1038/ng1094-136
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发表时间：
1994-10-01
期刊：
影响因子：
30.8
通讯作者：
LITT, M
中科院分区：
文献类型：
--
作者：
BROWNE, DL;GANCHER, ST;LITT, M
发作性共济失调（EA）是一种罕见的家族性疾病，可引起全身性共济失调发作，发作之间神经功能正常或接近正常。一种类型的EA的特征是短暂的共济失调发作，在发作之间有明显的肌震颤（肌肉波动）。在四个这样的家庭的连锁研究建议本地化的EA/myokymia基因附近的电压门控K+通道基因，KCNA 1（Kv1.1），染色体12 p。在这些家庭中的KCNA 1编码区的突变分析确定了四个不同的错义点突变存在于杂合子状态，表明EA/myokymia可以导致在这个基因的突变。
Episodic ataxia (EA) is a rare, familial disorder producing attacks of generalized ataxia, with normal or near-normal neurological function between attacks. One type of EA is characterized by brief episodes of ataxia with myokymia (rippling of muscles) evident between attacks. Linkage studies in four such families suggested localization of an EA/myokymia gene near the voltage gated K+ channel gene, KCNA1 (Kv1.1), on chromosome 12p. Mutation analysis of the KCNA1 coding region in these families identified four different missense point mutations present in the heterozygous state, indicating that EA/myokymia can result from mutations in this gene.