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.
2008
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.
File in questo prodotto:
File Dimensione Formato  
typical progression of myoclonic epilepsy of the Lafora type_a case report.pdf

non disponibili

Tipologia: Documento in Post-print
Licenza: Accesso privato/ristretto
Dimensione 760.34 kB
Formato Adobe PDF
760.34 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/138868
Citazioni
  • ???jsp.display-item.citation.pmc??? 16
  • Scopus 50
  • ???jsp.display-item.citation.isi??? 47
social impact