Utility of Skin Biopsy in a Case of Progressive Myoclonic Epilepsy: Challenge

Am J Dermatopathol. 2018 Sep;40(9):e123. doi: 10.1097/DAD.0000000000000924.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Biopsy, Needle
  • Diagnosis, Differential
  • Epidermis / pathology*
  • Hospitalization
  • Humans
  • Immunohistochemistry
  • Lafora Disease / genetics
  • Lafora Disease / pathology
  • Male
  • Myoclonic Epilepsies, Progressive / diagnosis
  • Myoclonic Epilepsies, Progressive / genetics*
  • Myoclonic Epilepsies, Progressive / pathology*
  • Prognosis
  • Protein Tyrosine Phosphatases, Non-Receptor / genetics*
  • Risk Assessment

Substances

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