Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

被引：61

作者：

Lotte, Jan ^{[1
]}

Bast, Thomas ^{[2
]}

Borusiak, Peter ^{[3
]}

Coppola, Antonietta ^{[4
]}

Cross, J. Helen ^{[4
]}

Dimova, Petia ^{[5
]}

Fogarasi, Andras ^{[6
]}

Graness, Irene ^{[7
]}

Guerrini, Renzo ^{[8
]}

Hjalgrim, Helle ^{[9
]}

Keimer, Reinhard ^{[10
]}

Korff, Christian M. ^{[11
]}

Kurlemann, Gerhard ^{[12
]}

Leiz, Steffen ^{[13
]}

Linder-Lucht, Michaela ^{[14
,15
]}

Loddenkemper, Tobias ^{[16
]}

Makowski, Christine ^{[17
]}

Muehe, Christian ^{[18
]}

Nicolai, Joost ^{[19
]}

Nikanorova, Marina

Pellacani, Simona

Philip, Sunny ^{[20
]}

Ruf, Susanne ^{[21
]}

Fernandez, Ivan Sanchez ^{[16
]}

Schlachter, Kurt ^{[22
]}

Striano, Pasquale ^{[23
]}

Sukhudyan, Biayna ^{[24
]}

Valcheva, Deyana ^{[25
]}

Vermeulen, R. Jeroen ^{[19
]}

Weisbrod, Tanja ^{[10
]}

Wilken, Bernd ^{[26
]}

Wolf, Philipp ^{[27
]}

Kluger, Gerhard ^{[1
,28
]}

机构：

[1] Schon Klin Vogtareuth, Neuropadiatrie, Vogtareuth, Germany

[2] Epilepsy Ctr Kork, Kehl Korg, Germany

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

[4] UCL, Great Ormond St Hosp, Dept Clin & Expt Epilepsy, London WC1E 6BT, England

[5] St Ivan Rilski Univ Hosp, Epilepsy Ctr, Sofia, Bulgaria

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

[7] Waldklinikum Gera, Neuropadiatrie, Gera, Germany

[8] Univ Florence, A Meyer Childrens Hosp, Child Neurol Unit, I-50121 Florence, Italy

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

[10] Stauferklin, Kinderklin, Schwabisch Gmund, Germany

[11] Univ Hosp Geneva, Pediat Neurol, Geneva, Switzerland

[12] Univ Kinderklin Munster, Neuropadiatrie, Munster, Germany

[13] Kinderklin Dritter Orden, Neuropadiatrie, Munich, Germany

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

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

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

[17] Tech Univ Munich, Klinikum Schwabing, Kinderklin, Munich, Germany

[18] Neuropadiatr Schwerpunktpraxis, Munich, Germany

[19] Maastricht Univ, Med Ctr, Dept Neurol, NL-6200 MD Maastricht, Netherlands

[20] Childrens Hosp Birmingham, Birmingham, W Midlands, England

[21] Univ Kinderklin Tubingen, Neuropadiatrie, Tubingen, Germany

[22] Landeskrankenhaus Bregenz, Dept Pediat, Bregenz, Austria

[23] Univ Genoa, Inst Gaslini, Pediat Neurol, Genoa, Italy

[24] Arabkir Med Complex, Pediat Neurol, Yerevan, Armenia

[25] Wedau Kliniken, Neuropadiatrie, Duisburg, Germany

[26] Kassel Hosp, Dept Pediat Neurol, Kassel, Germany

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

[28] Paracelsus Med Univ, Salzburg, Austria

来源：

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY | 2016年 / 35卷

关键词：

PCDH19; mutation; Epilepsy; Antiepileptic drugs; Treatment; Long-term effectiveness; FEMALE-LIMITED EPILEPSY; DRAVET SYNDROME;

D O I：

10.1016/j.seizure.2016.01.006

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Purpose: PCDH19 mutations cause epilepsy and mental retardation limited to females (EFMR) or Dravet-like syndromes. Especially in the first years of life, epilepsy is known to be highly pharmacoresistant. The aim of our study was to evaluate the effectiveness of antiepileptic therapy in patients with PCDH19 mutations. Methods: We report a retrospective multicenter study of antiepileptic therapy in 58 female patients with PCDH19 mutations and epilepsy aged 2-27 years (mean age 10.6 years). Results: The most effective drugs after 3 months were clobazam and bromide, with a responder rate of 68% and 67%, respectively, where response was defined as seizure reduction of at least 50%. Defining long-term response as the proportion of responders after 12 months of treatment with a given drug in relation to the number of patients treated for at least 3 months, the most effective drugs after 12 months were again bromide and clobazam, with a long-term response of 50% and 43%, respectively. Seventy-four percent of the patients became seizure-free for at least 3 months, 47% for at least one year. Significance: The most effective drugs in patients with PCDH19 mutations were bromide and clobazam. Although epilepsy in PCDH19 mutations is often pharmacoresistant, three quarters of the patients became seizure-free for at least for 3 months and half of them for at least one year. However, assessing the effectiveness of the drugs is difficult because a possible age-dependent spontaneous seizure remission must be considered. (C) 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

引用

页码：106 / 110

页数：5

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