Downbeat Nystagmus in Episodic Ataxia Type 1 Associated with a Novel KCNA1 Mutation

Mov Disord. 2022 Feb;37(2):430-432. doi: 10.1002/mds.28843. Epub 2021 Oct 31.
No abstract available

Keywords: acetazolamide; central positional nystagmus; downbeat nystagmus; episodic ataxia type 1.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Ataxia / complications
  • Ataxia / genetics
  • Humans
  • Kv1.1 Potassium Channel / genetics
  • Mutation / genetics
  • Myokymia*
  • Nystagmus, Pathologic* / genetics

Substances

  • KCNA1 protein, human
  • Kv1.1 Potassium Channel

Supplementary concepts

  • Episodic Ataxia