WWOX developmental and epileptic encephalopathy (WWOX-DEE): understanding the epileptology and the mortality risk

被引:0
|
作者
Trivisano, M. [1 ]
Oliver, K. L. [2 ,3 ,4 ]
Mandelstam, S. A. [5 ,6 ,7 ]
de Dominicis, A. [1 ]
Francis, D. [8 ]
Green, T. E. [2 ]
Muir, A. M. [9 ]
Chowdhary, A. [9 ]
Hertzberg, C. [10 ]
Goldhahn, K. [11 ]
Pinner, J. [12 ]
Cardamone, M. [12 ]
Myers, K. A. [13 ]
Lesca, G. [14 ,15 ]
Bahlo, M. [3 ]
Hildebrand, M. S. [2 ]
Mefford, H. C. [9 ]
Kaindl, A. M. [16 ]
Specchio, N. [1 ]
Scheffer, I. E. [2 ,5 ,6 ,7 ]
Leventer, R. J. [5 ,6 ]
机构
[1] IRCCS, Bambino Gesu Childrens Hosp, Dept Neurosci & Rehabil Med, Clin & Expt Neurol Unit, Rome, Italy
[2] Univ Melbourne, Dept Med, Epilepsy Res Ctr, Austin Hlth, Heidelberg, Vic, Australia
[3] Walter & Eliza Hall Inst Med Res, Populat Hlth & Immun Div, Parkville, Vic, Australia
[4] Univ Melbourne, Dept Med Biol, Melbourne, Vic, Australia
[5] Univ Melbourne, Dept Paediat, Melbourne, Australia
[6] Murdoch Childrens Res Inst, Melbourne, Australia
[7] Florey Inst Neurosci & Mental Hlth, Melbourne, Australia
[8] Royal Childrens Hosp, Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Australia
[9] Univ Washington, Dept Pediat, Seattle, WA USA
[10] Vivantes Hosp Neukoelln, Zentrum Sozialpadiatrie & Neuropadiatrie DBZ, Berlin, Germany
[11] DRK Klinikum Westend, Dept Pediat & Neuropediat, Berlin, Germany
[12] Childrens Hosp, Randwick, NSW, Australia
[13] McGill Univ, Dept Pediat, Div Child Neurol, Montreal, PQ, Canada
[14] Univ Claude Bernard Lyon 1, Lyon Univ Hosp, Dept Med Genet, Lyon, France
[15] ERN EpiCARE, Lyon, France
[16] Charite Univ Med Berlin, Ctr Chronically Sick Children SPZ, Berlin, Germany
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
987
引用
收藏
页码:122 / 123
页数:2
相关论文
共 36 条
  • [31] A case study of the evolution of status epilepticus in a child with DNM1L developmental and epileptic encephalopathy (DEE) characterised by continuous EEG monitoring
    Navarro, D. G. Attard
    Allen, D. D.
    Agirre, D. Z.
    Tan, D. S.
    Goyal, D. S.
    EPILEPSIA, 2024, 65 : 139 - 140
  • [32] Clinical characteristics and treatment experience of individuals with SCN8A developmental and epileptic encephalopathy (SCN8A-DEE): Findings from an online caregiver survey
    Cutts, Alison
    Savoie, Hillary
    Hammer, Michael F.
    Schreiber, John
    Grayson, Celene
    Luzon, Constanza
    Butterfield, Noam
    Pimstone, Simon N.
    Aycardi, Ernesto
    Harden, Cynthia
    Yonan, Chuck
    Jen, Eric
    Nguyen, Trung
    Carmack, Tara
    Haubenberger, Dietrich
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2022, 97 : 50 - 57
  • [33] Relationship Between Genetic Variants and Disease Characteristics in Patients with SCN8A Developmental and Epileptic Encephalopathy (SCN8A-DEE) or SCN8A-Related Epilepsy
    Haubenberger, Dietrich
    Grayson, Celene
    Cutts, Alison
    Luzon, Constanza
    Butterfield, Noam
    Savoie, Hillary
    Hammer, Michael F.
    Schreiber, John
    Pimstone, Simon N.
    Aycardi, Ernesto
    Harden, Cynthia
    Jen, Eric
    Nguyen, Trung
    NEUROLOGY, 2021, 96 (15)
  • [34] Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review
    Giacomini, Thea
    Pisciotta, Livia
    Prato, Giulia
    Meola, Irene
    Zara, Federico
    Fiorillo, Chiara
    Baratto, Serena
    Severino, Mariasavina
    De Grandis, Elisa
    Mancardi, Maria Margherita
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2019, 70 : 56 - 58
  • [35] How far can we go? Whole genome sequencing, periodic reanalysis and international collaborations expands our understanding of the causes of developmental and epileptic encephalopathy
    Palmer, E. E.
    Sachdev, R.
    Macintosh, R.
    Kandula, T.
    Minoche, A.
    Puttick, C.
    Gayevskiy, V.
    Roscioli, T.
    Dinger, M.
    Hesson, L.
    Shoubridge, C.
    Drew, A.
    Davis, R.
    Kummerfeld, S.
    Cowley, M.
    Bye, A.
    Kirk, E.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1431 - 1432
  • [36] Reprogramming of two induced pluripotent stem cell lines from a heterozygous GRIN2D developmental and epileptic encephalopathy (DEE) patient (BGUi011-A) and from a healthy family relative (BGUi012-A)
    Rabinski, Tatiana
    Sagiv, Sivan T.
    Hausman-Kedem, Moran
    Fattal-Valevski, Aviva
    Rubinstein, Moran
    Avraham, Karen B.
    Vatine, Gad D.
    STEM CELL RESEARCH, 2021, 51