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


METHODS
Neurological examination, neuropsychological testing, electrophysiological studies, skin biopsy, MRI, genetic testing, and autopsy.


METHODS
Lafora disease (EPM2), resulting from a homozygous missense mutation in EPM2B (NHLRC1; c205C>G; Pro69Ala).


RESULTS
Symptomatic treatment with conventional antiepileptic and antimyoclonic drugs.
Striano
Pasquale
P
Division of Neurology, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada.
Zara
Federico
F
Turnbull
Julie
J
Girard
Jean-Marie
JM
Ackerley
Cameron A
CA
Cervasio
Mariarosaria
M
De Rosa
Gaetano
G
Del Basso-De Caro
Maria Laura
ML
Striano
Salvatore
S
Minassian
Berge A
BA
D000328:Adult; D018450:Disease Progression; D004569:Electroencephalography; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D020192:Lafora Disease / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*