New calcium channel mutations predict aberrant RNA splicing in episodic ataxia

Neurology. 2005 Jul 26;65(2):308-10. doi: 10.1212/01.wnl.0000169020.82223.dd.

Abstract

Episodic ataxia type 2 (EA2) is an autosomal dominant channelopathy characterized by paroxysmal cerebellar ataxia. Previous studies suggest that most EA2 cases are associated with mutations in the alpha1A subunit of the P/Q-type voltage-gated calcium channel gene CACNA1A. In a UK national study, the authors analyzed 15 index cases with typical EA2 and identified two unreported intronic mutations that predict aberrant splicing.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Alternative Splicing / genetics*
  • Calcium Channels / genetics*
  • Cerebellar Ataxia / genetics*
  • Cerebellar Ataxia / metabolism
  • Cerebellar Ataxia / physiopathology
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19 / genetics
  • DNA Mutational Analysis
  • Female
  • Genes, Dominant
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing
  • Humans
  • Infant
  • Introns / genetics
  • Male
  • Mutation / genetics*
  • Pedigree
  • Polymorphism, Genetic / genetics
  • Protein Subunits / genetics
  • RNA / genetics*
  • RNA Splice Sites / genetics
  • United Kingdom

Substances

  • CACNA1A protein, human
  • Calcium Channels
  • Genetic Markers
  • Protein Subunits
  • RNA Splice Sites
  • RNA