Three novel KCNA1 mutations in episodic ataxia type I families.
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Scheffer H, Brunt ER, Mol GJ, van der Vlies P, Stulp RP, Verlind E, Mantel G, Averyanov YN, Hofstra RM, Buys CH
Three novel KCNA1 mutations in episodic ataxia type I families.
Hum Genet. 1998 Apr;102(4):464-6.
- PubMed ID
- 9600245 [ View in PubMed]
- 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.