A novel nonsense mutation of the EPM2A gene in northwest Greece causing myoclonic epilepsy

Seizure. 2013 May;22(4):315-7. doi: 10.1016/j.seizure.2012.12.014. Epub 2013 Jan 11.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Codon, Nonsense / genetics*
  • Epilepsies, Myoclonic / diagnosis
  • Epilepsies, Myoclonic / genetics
  • Female
  • Greece
  • Humans
  • Lafora Disease / diagnosis*
  • Lafora Disease / genetics*
  • Protein Tyrosine Phosphatases, Non-Receptor / genetics*
  • Young Adult

Substances

  • Codon, Nonsense
  • Protein Tyrosine Phosphatases, Non-Receptor
  • EPM2A protein, human