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Hum Genet. 1998 Apr;102(4):464-6.

Three novel KCNA1 mutations in episodic ataxia type I families.

Author information

  • 1Department of Medical Genetics, University of Groningen, The Netherlands. h.scheffer@med.rug.nl

Erratum in

  • Hum Genet 1998 Jun;102(6):713.

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.

PMID:
9600245
[PubMed - indexed for MEDLINE]
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