Case report: A Chinese child with Andersen-Tawil syndrome due to a de novo KCNJ2 mutation

J Neurol Sci. 2015 May 15;352(1-2):105-6. doi: 10.1016/j.jns.2015.02.027. Epub 2015 Feb 20.
No abstract available

Keywords: Andersen–Tawil syndrome; KCNJ2; Periodic paralysis.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Andersen Syndrome / diagnosis*
  • Andersen Syndrome / genetics*
  • Andersen Syndrome / physiopathology
  • Child
  • China
  • Electrocardiography
  • Humans
  • Male
  • Mutation
  • Potassium Channels, Inwardly Rectifying / genetics*

Substances

  • KCNJ2 protein, human
  • Potassium Channels, Inwardly Rectifying