TY - JOUR
T1 - Typical progression of myoclonic epilepsy of the Lafora type
T2 - A case report
AU - Striano, Pasquale
AU - Zara, Federico
AU - Turnbull, Julie
AU - Girard, Jean Marie
AU - Ackerley, Cameron A.
AU - Cervasio, Mariarosaria
AU - De Rosa, Gaetano
AU - Del Basso-De Caro, Maria Laura
AU - Striano, Salvatore
AU - Minassian, Berge A.
PY - 2008/2
Y1 - 2008/2
N2 - 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.
AB - 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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U2 - 10.1038/ncpneuro0706
DO - 10.1038/ncpneuro0706
M3 - Article
C2 - 18256682
AN - SCOPUS:39049092756
SN - 1745-834X
VL - 4
SP - 106
EP - 111
JO - Nature Clinical Practice Neurology
JF - Nature Clinical Practice Neurology
IS - 2
ER -