Human Genetics

, Volume 102, Issue 4, pp 464–466

Three novel KCNA1 mutations in episodic ataxia type I families

  • 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
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

Authors and Affiliations

  • H. Scheffer
    • 1
  • E. R. P. Brunt
    • 2
  • G. J. J. Mol
    • 1
  • P. van der Vlies
    • 1
  •  Stulp
    • 1
  • E. Verlind
    • 1
  • G. Mantel
    • 3
  • Y. N. Averyanov
    • 4
  • R. M. W. Hofstra
    • 1
  • C. H. C. M. Buys
    • 1
  1. 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.nlNL
  2. 2.Department of Neurology, University Hospital Groningen, Groningen, The NetherlandsNL
  3. 3.Department of Neurology, University Hospital Rotterdam, Rotterdam, The NetherlandsNL
  4. 4.Clinic of Nervous Diseases, Moscow Medical Academy, Moscow, RussiaRU