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.
Typical progression of myoclonic epilepsy of the Lafora type: a case report / P., Striano; F., Zara; J., Turnbull; Girard, J. M.; Ackerley, C. A.; M., Cervasio; DE ROSA, Gaetano; DEL BASSO DE CARO, Marialaura; Striano, Salvatore; Minassian, B. A.. - In: NATURE CLINICAL PRACTICE NEUROLOGY. - ISSN 1745-834X. - STAMPA. - 4:2(2008), pp. 106-111.
Typical progression of myoclonic epilepsy of the Lafora type: a case report
DE ROSA, GAETANO;DEL BASSO DE CARO, MARIALAURA;STRIANO, SALVATORE;
2008
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.| File | Dimensione | Formato | |
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