New mutation of CACNA1A gene in episodic ataxia type 2

Pediatr Int. 2011 Jun;53(3):415-6. doi: 10.1111/j.1442-200X.2011.03390.x.
No abstract available

Publication types

  • Letter

MeSH terms

  • Ataxia / genetics*
  • Ataxia / metabolism
  • Calcium Channels / genetics*
  • Calcium Channels / metabolism
  • Child
  • Child, Preschool
  • DNA / genetics*
  • Female
  • Gene Frequency
  • Humans
  • Male
  • Mutation*
  • Nystagmus, Pathologic / genetics*
  • Nystagmus, Pathologic / metabolism
  • Polymerase Chain Reaction

Substances

  • CACNA1A protein, human
  • Calcium Channels
  • DNA

Supplementary concepts

  • Episodic Ataxia, Type 2