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

[31] A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy
Manna, Ida
Gambardella, Antonio
Bianchi, Amedeo
Striano, Pasquale
Tozzi, Rossana
Aguglia, Umberto
Beccaria, Francesca
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Muscas, Gian C.
Paravidino, Roberta
Zaccara, Gaetano
Zucca, Claudio
Zara, Federico
Perucca, Emilio
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[32] Association of SCN1A, SCN2A and ABCC2 gene polymorphisms with the response to antiepileptic drugs in Chinese Han patients with epilepsy
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[33] SCN1A和PCDH19基因双重突变致急性脑病伴难治性癫痫持续状态一例
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[34] Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures
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CLINICA CHIMICA ACTA, 2018, 483 : 14 - 19
[35] Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
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[36] Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series
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JOURNAL OF MEDICAL CASE REPORTS, 2019, 13 (01)
[37] Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series
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Wiam Smaili
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[38] Generalized epilepsy with febrile seizures plus (GEFS plus ) spectrum: Clinical manifestations and SCN1A mutations in Indonesian patients
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EPILEPSY RESEARCH, 2010, 90 (1-2) : 132 - 139
[39] Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations (vol 47, pg 1629, 2006)
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Striano, P.
Gennaro, E.
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EPILEPSIA, 2007, 48 (02) : 409 - 409
[40] Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy
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