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 journalArticle

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. 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
Pages (from-to)106-111
Number of pages6
JournalNature clinical practice. Neurology
Volume4
Issue number2
DOIs
Publication statusPublished - Feb 2008

ASJC Scopus subject areas

  • Neuroscience(all)

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    Striano, P., Zara, F., Turnbull, J., Girard, J. M., Ackerley, C. A., Cervasio, M., De Rosa, G., Del Basso-De Caro, M. L., Striano, S., & Minassian, B. A. (2008). Typical progression of myoclonic epilepsy of the Lafora type: A case report. Nature clinical practice. Neurology, 4(2), 106-111. https://doi.org/10.1038/ncpneuro0706