A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot

Brain Dev. 2014 Mar;36(3):272-3. doi: 10.1016/j.braindev.2013.03.007. Epub 2013 Apr 25.
No abstract available

Publication types

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

MeSH terms

  • Epilepsies, Myoclonic / complications
  • Epilepsies, Myoclonic / genetics*
  • Frameshift Mutation*
  • Guanylate Kinases / genetics*
  • Humans
  • Male
  • Olivopontocerebellar Atrophies / complications
  • Olivopontocerebellar Atrophies / genetics*
  • Tetralogy of Fallot / complications
  • Tetralogy of Fallot / genetics*

Substances

  • CASK kinases
  • Guanylate Kinases

Supplementary concepts

  • Pontocerebellar Hypoplasia Type 3