Human Genetics

, Volume 102, Issue 4, pp 464–466

Three novel KCNA1 mutations in episodic ataxia type I families

Authors

  • H. Scheffer
    • 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
  • E. R. P. Brunt
    • Department of Neurology, University Hospital Groningen, Groningen, The Netherlands
  • G. J. J. Mol
    • 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
  • P. van der Vlies
    • 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
  •  Stulp
    • 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
  • E. Verlind
    • 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
  • G. Mantel
    • Department of Neurology, University Hospital Rotterdam, Rotterdam, The Netherlands
  • Y. N. Averyanov
    • Clinic of Nervous Diseases, Moscow Medical Academy, Moscow, Russia
  • R. M. W. Hofstra
    • 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
  • C. H. C. M. Buys
    • 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
Original investigation

DOI: 10.1007/s004390050722

Cite this article as:
Scheffer, H., Brunt, E., Mol, G. et al. Hum Genet (1998) 102: 464. doi:10.1007/s004390050722

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.

Copyright information

© Springer-Verlag Berlin Heidelberg 1998