title: Typical progression of myoclonic epilepsy of the Lafora type: a case report.
abstract: BACKGROUND
  A 20-year-old woman presented to a specialist epilepsy center with a 3-year history of drug-resistant epileptic seizures, progressive myoclonus, ataxia, and cognitive decline.
  
  
  METHODS
  Neurological examination, neuropsychological testing, electrophysiological studies, skin biopsy, MRI, genetic testing, and autopsy.
  
  
  METHODS
  Lafora disease (EPM2), resulting from a homozygous missense mutation in EPM2B (NHLRC1; c205C>G; Pro69Ala).
  
  
  RESULTS
  Symptomatic treatment with conventional antiepileptic and antimyoclonic drugs.
authors.affiliation: Division of Neurology, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
authors.forename: Julie
authors.initials: J
authors.lastname: Turnbull
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Girard
authors.forename: Cameron A
authors.initials: CA
authors.lastname: Ackerley
authors.forename: Mariarosaria
authors.initials: M
authors.lastname: Cervasio
authors.forename: Gaetano
authors.initials: G
authors.lastname: De Rosa
authors.forename: Maria Laura
authors.initials: ML
authors.lastname: Del Basso-De Caro
authors.forename: Salvatore
authors.initials: S
authors.lastname: Striano
authors.forename: Berge A
authors.initials: BA
authors.lastname: Minassian
mesh_terms: D000328:Adult; D018450:Disease Progression; D004569:Electroencephalography; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D020192:Lafora Disease / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*