A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit

Epilepsia. 2004 Mar;45(3):294-5. doi: 10.1111/j.0013-9580.2004.33203.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Carrier Proteins / genetics*
  • Cognition Disorders / diagnosis
  • Cognition Disorders / etiology*
  • Exons / genetics
  • Humans
  • Lafora Disease / complications*
  • Lafora Disease / genetics*
  • Male
  • Neuropsychological Tests
  • Protein Tyrosine Phosphatases / genetics*
  • Protein Tyrosine Phosphatases, Non-Receptor
  • Severity of Illness Index
  • Ubiquitin-Protein Ligases

Substances

  • Carrier Proteins
  • NHLRC1 protein, human
  • Ubiquitin-Protein Ligases
  • Protein Tyrosine Phosphatases
  • Protein Tyrosine Phosphatases, Non-Receptor
  • EPM2A protein, human

Associated data

  • OMIM/254780