Three novel KCNA1 mutations in episodic ataxia type I families

  • Hum Genet. 1998 Apr;102(4):464-6. doi: 10.1007/s004390050722.
H Scheffer  1 ,  E R Brunt ,  G J Mol ,  P van der Vlies ,  R P Stulp ,  E Verlind ,  G Mantel ,  Y N Averyanov ,  R M Hofstra ,  C H Buys
Affiliations
  • 1. Department of Medical Genetics, University of Groningen, The Netherlands. [email protected]
PMID: 9600245 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.