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Case Reports
. 2008 Feb;4(2):106-11.
doi: 10.1038/ncpneuro0706.

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

Pasquale Striano  1 , 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
Affiliations
Case Reports

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

Pasquale Striano et al. Nat Clin Pract Neurol. 2008 Feb.

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.

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