[De novo sporadic mutation in the KCND3 gene in a patient with early onset chronic ataxia]

Rev Neurol. 2019 May 1;68(9):398-399. doi: 10.33588/rn.6809.2018455.
[Article in Spanish]

Abstract

Title: Mutacion puntual de novo en el gen KCND3 en un paciente con ataxia cronica de inicio precoz.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Age of Onset
  • Ataxia / genetics*
  • Chronic Disease
  • Humans
  • Infant
  • Male
  • Mutation*
  • Shal Potassium Channels / genetics*

Substances

  • KCND3 protein, human
  • Shal Potassium Channels