Three novel KCNA1 mutations in episodic ataxia type I families
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- Scheffer, H., Brunt, E., Mol, G. et al. Hum Genet (1998) 102: 464. doi:10.1007/s004390050722
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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.