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Nat Clin Pract Neurol. 2008 Feb;4(2):106-11. doi: 10.1038/ncpneuro0706.

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

Author information

  • 1Division of Neurology, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada.

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.

PMID:
18256682
[PubMed - indexed for MEDLINE]
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