Three novel KCNA1 mutations in episodic ataxia type I families |
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| Authors: | H. Scheffer E. R. P. Brunt G. J. J. Mol P. van der Vlies Stulp E. Verlind G. Mantel Y. N. Averyanov R. M. W. Hofstra C. H. C. M. Buys |
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| Affiliation: | (1) Department of Medical Genetics, University of Groningen, Antonius Deusinglaan 4, NL-9713 AW Groningen, The Netherlands Tel: +31-50-3632925, Fax: +31-50-3632947, e-mail: h.scheffer@med.rug.nl, NL;(2) Department of Neurology, University Hospital Groningen, Groningen, The Netherlands, NL;(3) Department of Neurology, University Hospital Rotterdam, Rotterdam, The Netherlands, NL;(4) Clinic of Nervous Diseases, Moscow Medical Academy, Moscow, Russia, RU |
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| 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. Received: 20 November 1997 / Accepted: 12 January 1998 |
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