Typical progression of myoclonic epilepsy of the Lafora type: A case report

Pasquale Striano, Federico Zara, Julie Turnbull, Jean Marie Girard, Cameron A. Ackerley, Mariarosaria Cervasio, Gaetano De Rosa, Maria Laura Del Basso-De Caro, Salvatore Striano, Berge A. Minassian

Research output: Contribution to journalArticlepeer-review

50 Scopus citations


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. Investigations: Neurological examination, neuropsychological testing, electrophysiological studies, skin biopsy, MRI, genetic testing, and autopsy. Diagnosis: Lafora disease (EPM2), resulting from a homozygous missense mutation in EPM2B (NHLRC1; c205C>G; Pro69Ala). Management: Symptomatic treatment with conventional antiepileptic and antimyoclonic drugs.

Original languageEnglish (US)
Pages (from-to)106-111
Number of pages6
JournalNature Clinical Practice Neurology
Issue number2
StatePublished - Feb 2008

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience


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