A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy

Mov Disord. 2013 Apr;28(4):552-3. doi: 10.1002/mds.25296. Epub 2013 Jan 16.
No abstract available

Publication types

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

MeSH terms

  • Age of Onset
  • Aged
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Lysosomal Membrane Proteins / genetics*
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Myoclonic Epilepsies, Progressive / diagnosis
  • Myoclonic Epilepsies, Progressive / genetics*
  • Myoclonus / pathology*
  • Pedigree
  • Receptors, Scavenger / genetics*

Substances

  • Lysosomal Membrane Proteins
  • Receptors, Scavenger
  • SCARB2 protein, human