| Literature DB >> 9600245 |
H Scheffer1, E R Brunt, G J Mol, P van der Vlies, R P Stulp, E Verlind, G Mantel, Y N Averyanov, R M Hofstra, C H Buys.
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.Entities:
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Year: 1998 PMID： 9600245 DOI： 10.1007/s004390050722
Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132