Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
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.

PubMed Disclaimer

Publication types

LinkOut - more resources