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

被引:0
|
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
来源
关键词
D O I
暂无
中图分类号
学科分类号
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.
引用
收藏
页码:106 / 111
页数:5
相关论文
共 50 条
  • [31] Progressive Myoclonic Epilepsy Due to Lafora Body Disease with a Novel Mutation
    Israni, Anil V.
    Mandal, Anirban
    JOURNAL OF PEDIATRIC NEUROSCIENCES, 2018, 13 (01) : 123 - +
  • [32] Hirayama disease with juvenile myoclonic epilepsy: A case report
    Park, Jin-Sung
    Park, Sung-Pa
    Seo, Jong-Geun
    ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2014, 17 (03) : 358 - 360
  • [33] SEVERE MYOCLONIC EPILEPSY IN INFANTS - A CASE-REPORT
    HAMANO, S
    GOTO, K
    OBATA, J
    KUMAGAI, K
    SAITO, F
    JO, K
    GOMIBUCHI, I
    MAEKAWA, K
    BRAIN & DEVELOPMENT, 1987, 9 (03): : 328 - 329
  • [35] Glucan phosphatases link Lafora progressive myoclonic epilepsy and biofuels research
    Gentry, Matthew S.
    Meekins, David A.
    Raththagala, Madushi
    Vander Kooi, Craig W.
    ABSTRACTS OF PAPERS OF THE AMERICAN CHEMICAL SOCIETY, 2013, 246
  • [36] Efficacy of zonisamide in Lafora's disease case and brief review of its use in progressive myoclonic epilepsy
    Rubio-Nazabal, Eduardo
    Alvarez-Perez, Purificacion
    Cores-Bartolome, Carlos
    Lema-Facal, Teresa
    REVISTA DE NEUROLOGIA, 2022, 75 (06) : 159 - 163
  • [37] A typical case of myoclonic epilepsy with ragged red fibers (MERRF) and the lessons learned
    Chandra, S. R.
    Issac, T. G.
    Gayathri, N.
    Gupta, N.
    Abbas, M. M.
    JOURNAL OF POSTGRADUATE MEDICINE, 2015, 61 (03) : 200 - 202
  • [38] Late-onset myoclonic epilepsy in Down syndrome (LOMEDS): A spectrum of progressive myoclonic epilepsy - Case report
    Sharma, Chandra Mohan
    Pandey, Rajendra Kumar
    Kumawat, Banshi Lal
    Khandelwal, Dinesh
    ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2016, 19 (02) : 267 - 268
  • [39] Focal epilepsy recruiting a generalised network of juvenile myoclonic epilepsy: a case report
    Khaing, Myo
    Lim, Kheng-Seang
    Tan, Chong-Tin
    EPILEPTIC DISORDERS, 2014, 16 (03) : 370 - 374
  • [40] Case Report Low-dose phenobarbital for epilepsy with myoclonic absences: A case report
    Ito, Susumu
    Nagumo, Kaoruko
    Nishikawa, Aiko
    Oguni, Hirokazu
    Nagata, Satoru
    BRAIN & DEVELOPMENT, 2021, 43 (05): : 666 - 668