| Literature DB >> 18256682 |
Pasquale Striano1, 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.
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.Entities:
Mesh：
Year: 2008 PMID： 18256682 DOI： 10.1038/ncpneuro0706
Source DB: PubMed Journal: Nat Clin Pract Neurol ISSN： 1745-834X