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

Epidemiology: 1) most common & severe form of adolescent-onset progressive epilepsy 2) particularly common in the mediterranean countries of southern Europe & northern Africa, in southern India & in the Middle East Pathology: 1) Lafora bodies in brain, muscle, liver & heart - organs with the highest glucose metabolism 2) inclusions are in neuronal dendrites but not axons 3) forming polyglucosan fibrils are associated with the endoplasmic reticulum Genetics: 1) autosomal recessive 2) may be caused by a) mutation in the laforin gene b) mutation in the malin gene Clinical manifestations: 1) onset at about age 15 2) grand mal seizures &/or myoclonus 3) severe mental deterioration 4) psychotic features 5) death generally occurs within 10 years of onset 6) atypical patients present in childhood with educational & learning difficulties

Related

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

General

syndrome myoclonic epilepsy

Database Correlations

OMIM 254780

References

  1. OMIM :accession 254780
  2. UniProt :accession Q6VVB1
  3. Lafora disease mutation database http://projects.tcag.ca/lafora