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Nonconsensus intronic mutations cause episodic ataxia.

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Annals of neurology

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      Abstract

      We discovered intronic mutations in two episodic ataxia type 2 (EA2) families: a four-nucleotide GAGT deletion at IVS41+(3-6) and a single nucleotide insertion (insT) at IVS24+3. We expressed minigenes harboring the mutations in cell lines to demonstrate exon skipping from the deletion mutation and the activation of a cryptic splice donor site from the insertion mutation. The identification of these disease-causing mutations expands the spectrum of EA2 mutations and emphasizes the importance of intronic sequences in regulating gene expression.

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      Affiliations
      [1 ] Department of Neurology, University of California at Los Angeles, 710 Westwood Plaza, Los Angeles, CA 90095-1769, USA.
      Journal
      Ann. Neurol.
      Annals of neurology
      0364-5134
      0364-5134
      Jan 2005
      : 57
      : 1
      15622542
      10.1002/ana.20343

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