发作性共济失调I型家系中的三个新的KCNA1突变
Three novel KCNA1 mutations in episodic ataxia type I families.
作者信息
Scheffer H, Brunt E R, Mol G J, van der Vlies P, Stulp R P, Verlind E, Mantel G, Averyanov Y N, Hofstra R M, Buys C H
机构信息
Department of Medical Genetics, University of Groningen, The Netherlands.
出版信息
Hum Genet. 1998 Apr;102(4):464-6. doi: 10.1007/s004390050722.
PMID:9600245
Abstract
Hereditary paroxysmal ataxia, or episodic ataxia (EA), is a rare, genetically heterogeneous neurological disorder characterized by attacks of generalized ataxia. By direct sequence analysis, a different missense mutation of the potassium channel gene (KCNA1) has been identified in three families with EA.
摘要
遗传性阵发性共济失调，或发作性共济失调（EA），是一种罕见的、具有遗传异质性的神经系统疾病，其特征为全身性共济失调发作。通过直接测序分析，在三个发作性共济失调家族中鉴定出了钾通道基因（KCNA1）的不同错义突变。
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