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.Neurological examination, neuropsychological testing, electrophysiological studies, skin biopsy, MRI, genetic testing, and autopsy.Lafora disease (EPM2), resulting from a homozygous missense mutation in EPM2B (NHLRC1; c205C>G; Pro69Ala).Symptomatic treatment with conventional antiepileptic and antimyoclonic drugs.

Typical progression of myoclonic epilepsy of the Lafora type: a case report / Striano, P., F., Z., J., T., J., G., C. A., A., M., C., G. D., R., M. L., D., Striano, S., B. A., M.. - In: NATURE CLINICAL PRACTICE NEUROLOGY. - ISSN 1745-834X. - ELETTRONICO. - 4:(2008), pp. 106-111. [10.1038/ncpneuro0706]

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

STRIANO, PASQUALE;STRIANO, SALVATORE;
2008

Abstract

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.Neurological examination, neuropsychological testing, electrophysiological studies, skin biopsy, MRI, genetic testing, and autopsy.Lafora disease (EPM2), resulting from a homozygous missense mutation in EPM2B (NHLRC1; c205C>G; Pro69Ala).Symptomatic treatment with conventional antiepileptic and antimyoclonic drugs.
2008
Typical progression of myoclonic epilepsy of the Lafora type: a case report / Striano, P., F., Z., J., T., J., G., C. A., A., M., C., G. D., R., M. L., D., Striano, S., B. A., M.. - In: NATURE CLINICAL PRACTICE NEUROLOGY. - ISSN 1745-834X. - ELETTRONICO. - 4:(2008), pp. 106-111. [10.1038/ncpneuro0706]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

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/11588/480199
Citazioni
  • ???jsp.display-item.citation.pmc??? 26
  • Scopus ND
  • ???jsp.display-item.citation.isi??? ND
social impact