A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2

Cerebellum. 2018 Aug;17(4):504-506. doi: 10.1007/s12311-018-0931-8.
No abstract available

Publication types

  • Case Reports
  • Editorial
  • Video-Audio Media

MeSH terms

  • Adult
  • Ataxia / genetics*
  • Ataxia / physiopathology
  • Calcium Channels / genetics*
  • Frameshift Mutation*
  • Humans
  • Male
  • Nystagmus, Pathologic / genetics*
  • Nystagmus, Pathologic / physiopathology
  • Phenotype

Substances

  • CACNA1A protein, human
  • Calcium Channels

Supplementary concepts

  • Episodic Ataxia, Type 2