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Three novel KCNA1 mutations in episodic ataxia type I families
H Scheffer1, E R Brunt, G J Mol
1Department of Medical Genetics, University of Groningen, The Netherlands. h.scheffer@med.rug.nl
Human Genetics
|May 26, 1998
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.