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

被引:0
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作者
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
机构
[1] P Striano is a Consultant Neurologist and Research Assistant at the Epilepsy Center,in the Department of Neurological Sciences
[2] M Cervasio is a collaborator in the Laboratory of Electron Microscopy,J Turnbull is a PhD candidate in the Department of Medical and Molecular Genetics
[3] G De Rosa is Professor of Pathological Anatomy,undefined
[4] ML Del Basso-De Caro is Associate Professor of Clinical Pathology,undefined
[5] and S Striano is Associate Professor of Neurology and Head of the Epilepsy Center,undefined
[6] University of Naples Federico II,undefined
[7] Naples,undefined
[8] Italy.,undefined
[9] F Zara is Head Geneticist in the Unit of Muscular and Neurodegenerative Disease,undefined
[10] Institute G Gaslini,undefined
[11] Genoa,undefined
[12] Italy,undefined
[13] in which P Striano is also a Consultant Neurologist and Research Assistant.,undefined
[14] and BA Minassian is Associate Professor of Pediatrics,undefined
[15] at the University of Toronto,undefined
[16] Toronto,undefined
[17] ON,undefined
[18] Canada. BA Minassian is also the Canada Research Chair in Pediatric Neurogenetics.,undefined
[19] J-M Girard is a Postdoctoral Fellow in the Program in Genetics and Genome Biology and CA Ackerley is Head of the Electron Microscopy facility,undefined
[20] at the Hospital for Sick Children,undefined
[21] Toronto,undefined
[22] ON,undefined
[23] Canada.,undefined
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摘要
This Case Study describes in detail a case of Lafora disease, from its earliest stages through the clinical progression, including detailed neurophysiological studies, diagnostic biopsy and autopsy.
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页码:106 / 111
页数:5
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