progressive myoclonic epilepsy 2A; myoclonic epilepsy of Lafora (MELF)

Epidemiology

• most common & severe form of adolescent-onset progressive epilepsy
• particularly common in the mediterranean countries of southern Europe & northern Africa, in southern India & in the Middle East

Pathology

• Lafora bodies in brain, muscle, liver & heart
  • organs with the highest glucose metabolism
• inclusions are in neuronal dendrites but not axons
• forming polyglucosan fibrils are associated with the endoplasmic reticulum

Genetics

• autosomal recessive
• may be caused by
  • mutation in the laforin gene
  • mutation in the malin gene

Clinical manifestations

• onset at about age 15
• grand mal seizures &/or myoclonus
• severe mental deterioration
• psychotic features
• death generally occurs within 10 years of onset
• atypical patients present in childhood with educational & learning difficulties

More general terms

• syndrome
• myoclonic epilepsy

Additional terms

• E3 ubiquitin-protein ligase NHLRC1; malin; NHL repeat-containing protein 1 (NHLRC1, EPM2B)
• laforin; Lafora PTPase; LAFPTPase (EPM2A)

Database

• OMIM: https://mirror.omim.org/entry/254780