EXPLORING THE CAUSATIVE ROLE OF PCDH19 (XQ22) IN FEMALE PATIENTS WITH EPILEPSY

被引：0
|
作者：
Hardies, K. [1 ,2 ,3 ]
Suls, A. [1 ,2 ,3 ]
Weckhuysen, S. [4 ]
Van Dyck, T. [1 ,2 ,3 ]
Janssen, A. [5 ]
Keleman, A. [6 ]
Fogarasi, A. [7 ]
Karcagi, V [8 ]
De Jonghe, P. [1 ,2 ,9 ]
机构：
[1] VIB, Dept Mol Genet, Antwerp, Belgium
[2] Inst Born Bunge, Antwerp, Belgium
[3] Univ Antwerp, B-2020 Antwerp, Belgium
[4] Epilepsy Ctr Kempenhaeghe, Oosterhout, Netherlands
[5] Univ Hosp Brussels, Brussels, Belgium
[6] Natl Inst Neurosci, Budapest, Hungary
[7] Bethesda Childrens Hosp, Budapest, Hungary
[8] Johannes Gutenberg Univ Mainz, Mainz, Germany
[9] Univ Antwerp Hosp, Antwerp, Belgium
来源：
EPILEPSIA | 2011年 / 52卷
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：
引用
收藏
页码：96 / 96
页数：1
相关论文
共 50 条
  • [41] PCDH19 Girls Clustering Epilepsy Carries Significant Risk of Psychotic Disorder after Childhood
    Scheffer, I.
    Vlaskamp, D.
    Bassett, A.
    Robblee, J.
    Sullivan, J.
    Sadleir, L.
    Andrade, D.
    EPILEPSIA, 2018, 59 : S348 - S349
  • [42] Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations
    Dibbens, L. M.
    Kneen, R.
    Bayly, M. A.
    Heron, S. E.
    Arsov, T.
    Damiano, J. A.
    Desai, T.
    Gibbs, J.
    McKenzie, F.
    Mulley, J. C.
    Ronan, A.
    Scheffer, I. E.
    NEUROLOGY, 2011, 76 (17) : 1514 - 1519
  • [43] Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy
    Pederick, Daniel T.
    Richards, Kay L.
    Piltz, Sandra G.
    Kumar, Raman
    Mincheva-Tasheva, Stefka
    Mandelstam, Simone A.
    Dale, Russell C.
    Scheffer, Ingrid E.
    Gecz, Jozef
    Petrou, Steven
    Hughes, James N.
    Thomas, Paul Q.
    NEURON, 2018, 97 (01) : 59 - +
  • [44] Case report: A novel mosaic nonsense mutation of PCDH19 in a Chinese male with febrile epilepsy
    Chen, Guilan
    Zhou, Hang
    Lu, Yan
    Wang, You
    Li, Yingsi
    Xue, Jiaxin
    Cheng, Ken
    Huang, Ruibin
    Han, Jin
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [45] A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy
    Kolc, Kristy L.
    Sadleir, Lynette G.
    Depienne, Christel
    Marini, Carla
    Scheffer, Ingrid E.
    Moller, Rikke S.
    Trivisano, Marina
    Specchio, Nicola
    Pham, Duyen
    Kumar, Raman
    Roberts, Rachel
    Gecz, Jozef
    TRANSLATIONAL PSYCHIATRY, 2020, 10 (01)
  • [46] A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy
    Kristy L. Kolc
    Lynette G. Sadleir
    Christel Depienne
    Carla Marini
    Ingrid E. Scheffer
    Rikke S. Møller
    Marina Trivisano
    Nicola Specchio
    Duyen Pham
    Raman Kumar
    Rachel Roberts
    Jozef Gecz
    Translational Psychiatry, 10
  • [47] Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy
    Marini, Carla
    Darra, Francesca
    Specchio, Nicola
    Mei, Davide
    Terracciano, Alessandra
    Parmeggiani, Lucio
    Ferrari, Annarita
    Sicca, Federico
    Mastrangelo, Massimo
    Spaccini, Luigina
    Canopoli, Maria Lucia
    Cesaroni, Elisabetta
    Zamponi, Nelia
    Caffi, Lorella
    Ricciardelli, Paolo
    Grosso, Salvatore
    Pisano, Tiziana
    Canevini, Maria Paola
    Granata, Tiziana
    Accorsi, Patrizia
    Battaglia, Domenica
    Cusmai, Raffaella
    Vigevano, Federico
    Dalla Bernardina, Bernardo
    Guerrini, Renzo
    EPILEPSIA, 2012, 53 (12) : 2111 - 2119
  • [48] Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report
    Kurian, Mary
    Korff, Christian M.
    Ranza, Emmanuelle
    Bernasconi, Andrea
    Luebbig, Anja
    Nangia, Srishti
    Ramelli, Gian Paolo
    Wohlrab, Gabriele
    Nordli, Douglas R., Jr.
    Bast, Thomas
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2018, 60 (01): : 100 - 105
  • [49] Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): The role of protocadherin 19 (PCDH19) gene mutation
    Specchio, Nicola
    Fusco, Lucia
    Vigevano, Federico
    EPILEPSIA, 2011, 52 (11) : E172 - E175
  • [50] PCDH 19 female related infantile epilepsy: a case report
    Stefani, F.
    Rizzati, F.
    Oueirolo, S.
    Auricchio, H.
    Giacchetti, L.
    Pezzoli, V
    Agazzi, P.
    Ramelli, G. P.
    Ferrucci, E.
    SWISS MEDICAL WEEKLY, 2015, 145 : 37 - 38
12345