2. Academic Validation
  3. Three novel KCNA1 mutations in episodic ataxia type I families

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

Affiliation

  • 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.

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