doi: 10.1007/s004390050722.
Three novel KCNA1 mutations in episodic ataxia type I families
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- PMID: 9600245
- DOI: 10.1007/s004390050722
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Three novel KCNA1 mutations in episodic ataxia type I families
Hum Genet.
1998 Apr.
Erratum in
- Hum Genet 1998 Jun;102(6):713
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.
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