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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Received: 20 November 1997 / Accepted: 12 January 1998
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Scheffer, H., Brunt, E., Mol, G. et al. Three novel KCNA1 mutations in episodic ataxia type I families. Hum Genet 102, 464–466 (1998). https://doi.org/10.1007/s004390050722
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DOI: https://doi.org/10.1007/s004390050722