A novel de novo pathogenic mutation in the CACNA1A gene

Mov Disord. 2012 Oct;27(12):1578-9. doi: 10.1002/mds.25198. Epub 2012 Oct 4.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Video-Audio Media

MeSH terms

  • Ataxia / diagnosis
  • Ataxia / genetics*
  • Brain / pathology
  • Calcium Channels / genetics*
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Mutation / genetics*
  • Nystagmus, Pathologic / diagnosis
  • Nystagmus, Pathologic / genetics*
  • Young Adult

Substances

  • CACNA1A protein, human
  • Calcium Channels

Supplementary concepts

  • Episodic Ataxia, Type 2