A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood

Seizure. 2017 Oct:51:77-79. doi: 10.1016/j.seizure.2017.07.011. Epub 2017 Jul 27.
No abstract available

Keywords: Childhood; EPM2A; Lafora disease; Parkinsonism.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cognitive Dysfunction / genetics
  • Cognitive Dysfunction / physiopathology
  • Drug Resistant Epilepsy / drug therapy
  • Drug Resistant Epilepsy / genetics
  • Drug Resistant Epilepsy / physiopathology
  • Drug Resistant Epilepsy / psychology
  • Female
  • Humans
  • Lafora Disease / drug therapy
  • Lafora Disease / genetics*
  • Lafora Disease / physiopathology
  • Lafora Disease / psychology
  • Mutation*
  • Parkinsonian Disorders / drug therapy
  • Parkinsonian Disorders / genetics*
  • Parkinsonian Disorders / physiopathology
  • Parkinsonian Disorders / psychology
  • Phenotype
  • Protein Tyrosine Phosphatases, Non-Receptor / genetics*

Substances

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