Typical progression of myoclonic epilepsy of the Lafora type: a case report
Pasquale Striano1, Federico Zara, Julie Turnbull
1Division of Neurology, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada.
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.
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