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

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EPILEPSIA, 2010, 51 : 33 - 33
[22] NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy
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INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2024, 25 (11)
[23] Identification of a two novel SCN1A gene mutations in a patient with therapy-resistant epilepsy
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[24] Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations
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Striano, Pasquale
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Capovilla, Giuseppe
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[25] SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations
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SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2016, 39 : 34 - 43
[26] Mutations in the sodium channel gene SCN1A in patients with severe myoclonic epilepsy of infancy: An update
Claes, LRF
Claeys, KG
Van Dyck, T
Van Broeckhoven, C
De Jonghe, P
EPILEPSIA, 2005, 46 : 367 - 367
[27] A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients
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[28] A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients
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[29] Four Novel SCN1A Mutations in Turkish Patients With Severe Myoclonic Epilepsy of Infancy (SMEI)
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Kolb, Luis E.
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Ozturk, Ali K.
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JOURNAL OF CHILD NEUROLOGY, 2010, 25 (10) : 1265 - 1268
[30] ASSOCIATION OF POLYMORPHISM OF THE SODIUM CHANNELS GENE SCN1A WITH THE EFFECTIVENESS OF PHENITOINE TREATMENT IN PATIENTS WITH EPILEPSY
Oros, M. M.
Chomolyak, Y. Y.
Oros, O. P.
Chomolyak, H. M.
Reynolds, G. P.
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