EFFECTIVENESS OF ANTIEPILEPTIC THERAPY IN CATASTROPHIC INFANTILE EPILEPSY: COMPARISON OF PATIENTS WITH SCN1A AND PCDH19 MUTATIONS

被引：0

作者：

Lotte, J. ^{[1
]}

Bast, T. ^{[2
]}

Borusiak, P. ^{[3
]}

Coppola, A. ^{[4
]}

Cross, H. ^{[4
]}

Dimova, P. ^{[5
]}

Fernandez, Sanchez, I ^{[6
]}

Fogarasi, A. ^{[7
]}

Graness, I ^{[8
]}

Guerrini, R. ^{[9
]}

Hjalgrim, H. ^{[10
]}

Leiz, S. ^{[11
]}

Linder-Lucht, M. ^{[12
,13
]}

Loddenkemper, T. ^{[6
]}

Makowski, C. ^{[14
]}

Mueller, A. ^{[15
]}

Nicolai, J. ^{[16
]}

Pellacani, S. ^{[9
]}

Philip, S. ^{[17
]}

Ruf, S. ^{[18
]}

Selch, C. ^{[14
]}

Schlachter, K. ^{[19
]}

Striano, P. ^{[20
]}

Sukhudyan, B. ^{[21
]}

Vermeulen, R. J. ^{[22
]}

Staudt, M. ^{[15
]}

Wolf, P. ^{[23
]}

Kluger, G. ^{[15
]}

机构：

[1] Kinderzentrum, Maulbronn, Germany

[2] Epilepsiezentrum, Epilepsieklin Kinder & Jugendliche, Kork, Germany

[3] Univ Witten Herdecke, HELIOS Hosp, Dept Pediat, Wuppertal, Germany

[4] UCL, Great Ormond St Hosp, Dept Clin & Expt Epilepsy, London, England

[5] St Naum Univ Hosp Neurol & Psychiat, Clin Child Neurol, Sofia, Bulgaria

[6] Boston Childrens Hosp, Div Epilepsy & Clin Neurophysiol, Boston, MA USA

[7] Bethesda Childrens Hosp, Neurol Dept, Budapest, Hungary

[8] Waldklinikum, Gera, Germany

[9] Univ Florence, A Meyer Childrens Hosp, Child Neurol Unit, Florence, Italy

[10] Epilepsihosp Filadelfia, Danish Epilepsie Ctr, Dianalund, Denmark

[11] Kinderklin Dritter Orden, Munich, Germany

[12] Hosp del Mar, Serv Pediat, Barcelona, Spain

[13] Hosp del Mar, Unidad Epilepsia, Barcelona, Spain

[14] Tech Univ Munich, Klinikum Schwabing, Kinderklin, D-80290 Munich, Germany

[15] Schon Kliniken, Vogtareuth, Germany

[16] Maastricht Univ, Med Ctr, Dept Neurol, Maastricht, Netherlands

[17] Childrens Hosp, Birmingham B16 8ET, W Midlands, England

[18] Univ Kinderklin, Tubingen, Germany

[19] Landeskrankenhaus, Dept Pediat, Bregenz, Austria

[20] Univ Genoa, Inst Gaslini, Genoa, Italy

[21] Arabkir Med Complex, Yerevan, Armenia

[22] Vrije Univ Amsterdam, Med Ctr, Amsterdam, Netherlands

[23] DRK Childrens Hosp, Dept Neuropediat, Siegen, Germany

来源：

EPILEPSIA | 2014年 / 55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：

005

引用

页码：5 / 6

页数：2

共 41 条

[1] Effectiveness of antiepileptic therapy in patients with PCDH19 mutations
Lotte, Jan
Bast, Thomas
Borusiak, Peter
Coppola, Antonietta
Cross, J. Helen
Dimova, Petia
Fogarasi, Andras
Graness, Irene
Guerrini, Renzo
Hjalgrim, Helle
Keimer, Reinhard
Korff, Christian M.
Kurlemann, Gerhard
Leiz, Steffen
Linder-Lucht, Michaela
Loddenkemper, Tobias
Makowski, Christine
Muehe, Christian
Nicolai, Joost
Nikanorova, Marina
Pellacani, Simona
Philip, Sunny
Ruf, Susanne
Fernandez, Ivan Sanchez
Schlachter, Kurt
Striano, Pasquale
Sukhudyan, Biayna
Valcheva, Deyana
Vermeulen, R. Jeroen
Weisbrod, Tanja
Wilken, Bernd
Wolf, Philipp
Kluger, Gerhard
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2016, 35 : 106 - 110
[2] Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome
Kwong, Anna Ka-Yee
Fung, Cheuk-Wing
Chan, Siu-Yuen
Wong, Virginia Chun-Nei
PLOS ONE, 2012, 7 (07):
[3] Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations
Appenzeller, Silke
Helbig, Ingo
Stephani, Ulrich
Haeusler, Martin
Kluger, Gerhard
Bungeroth, May
Mueller, Stefanie
Kuhlenbaeumer, Gregor
Van Baalen, Andreas
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2012, 54 (12): : 1144 - 1148
[4] 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
[5] Identification of PCDH19 gene mutations/deletions in patients with early onset epilepsy
Gursoy, Semra
Ataman, Esra
Baysal, Bahar Toklu
Ozyilmaz, Berk
Gencpinar, Pinar
Hiz, Ayse Semra
Yis, Uluc
Unalp, Aycan
Dundar, Nihal Olgac
Ulgenalp, Ayfer
Ercal, Derya
ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2020, 23 (02) : 206 - 210
[6] NATIONAL REGISTRY OF DRAVET'S SYNDROME AND OTHER SYNDROMES CORRELATED WITH GENES SCN1A AND PCDH19
Dalla Bernardina, B.
EPILEPSIA, 2015, 56 : 90 - 90
[7] The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population
Liu, A.
Xu, X.
Yang, X.
Jiang, Y.
Yang, Z.
Liu, X.
Wu, Y.
Wu, X.
Wei, L.
Zhang, Y.
CLINICAL GENETICS, 2017, 91 (01) : 54 - 62
[8] NATIONAL REGISTRY OF DRAVET'S SYNDROME AND OTHER SYNDROMES CORRELATED WITH GENES SCN1A AND PCDH19
Dalla Bernardina, B.
Brambilla, I
Bianchi, F.
Paoli, D.
Pierini, A.
Lipucci, M.
EPILEPSIA, 2014, 55 : 235 - 235
[9] Identification of SCN1a mutations: Implications for management of children with infantile onset epilepsy
Zuberi, Sameer M.
Birch, Rachael
Conlin, Louise
Stenhouse, Susan A. R.
EPILEPSIA, 2006, 47 : 153 - 153
[10] Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants
Ana Carla Mondek Rampazzo
Rafael Rodrigues Pinheiro dos Santos
Fernando Arfux Maluf
Renata Faria Simm
Fernando Augusto Lima Marson
Manoela Marques Ortega
Paulo Henrique Pires de Aguiar
neurogenetics, 2021, 22 : 105 - 115

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