Typical progression of myoclonic epilepsy of the Lafora type: A case report

Pasquale Striano, 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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)106-111
Number of pages6
JournalNature clinical practice. Neurology
Volume4
Issue number2
DOIs
Publication statusPublished - Feb 2008

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Lafora Disease
Epilepsy
Neurologic Examination
Genetic Testing
Missense Mutation
Anticonvulsants
Autopsy
Biopsy
Skin
Pharmaceutical Preparations
Therapeutics

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Typical progression of myoclonic epilepsy of the Lafora type : A case report. / Striano, Pasquale; Zara, Federico; Turnbull, Julie; Girard, Jean Marie; Ackerley, Cameron A.; Cervasio, Mariarosaria; De Rosa, Gaetano; Del Basso-De Caro, Maria Laura; Striano, Salvatore; Minassian, Berge A.

In: Nature clinical practice. Neurology, Vol. 4, No. 2, 02.2008, p. 106-111.

Research output: Contribution to journalArticle

Striano, P, Zara, F, Turnbull, J, Girard, JM, Ackerley, CA, Cervasio, M, De Rosa, G, Del Basso-De Caro, ML, Striano, S & Minassian, BA 2008, 'Typical progression of myoclonic epilepsy of the Lafora type: A case report', Nature clinical practice. Neurology, vol. 4, no. 2, pp. 106-111. https://doi.org/10.1038/ncpneuro0706
Striano, Pasquale ; Zara, Federico ; Turnbull, Julie ; Girard, Jean Marie ; Ackerley, Cameron A. ; Cervasio, Mariarosaria ; De Rosa, Gaetano ; Del Basso-De Caro, Maria Laura ; Striano, Salvatore ; Minassian, Berge A. / Typical progression of myoclonic epilepsy of the Lafora type : A case report. In: Nature clinical practice. Neurology. 2008 ; Vol. 4, No. 2. pp. 106-111.
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