Effectiveness of antiepileptic therapy in patients with PCDH19 mutations
Effectiveness of antiepileptic therapy in patients with PCDH19 mutations
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DOI：
10.1016/j.seizure.2016.01.006
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发表时间：
2016-02-01
影响因子：
3
通讯作者：
Kluger, Gerhard
中科院分区：
文献类型：
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作者：
Lotte, Jan;Bast, Thomas;Kluger, Gerhard
目的：PCDH19 突变导致癫痫和仅限女性的智力低下 (EFMR) 或 Dravet 样综合征。尤其是在生命的最初几年，癫痫具有高度的耐药性。我们研究的目的是评估 PCDH19 突变患者抗癫痫治疗的有效性。方法：我们报告了一项对 58 名 2-27 岁（平均年龄 10.6 岁）PCDH19 突变女性癫痫患者进行抗癫痫治疗的回顾性多中心研究。结果：3 个月后最有效的药物是氯巴占和溴化物，应答率分别为 68% 和 67%，其中缓解定义为癫痫发作减少至少 50%。将长期缓解定义为使用给定药物治疗 12 个月后有反应的患者占治疗至少 3 个月的患者人数的比例，12 个月后最有效的药物仍然是溴化物和氯巴占，长期缓解率分别为 50% 和 43%。 74% 的患者至少 3 个月无癫痫发作，47% 至少一年无癫痫发作。 意义：对于 PCDH19 突变患者最有效的药物是溴化物和氯巴扎姆。尽管 PCDH19 突变的癫痫通常具有耐药性，但四分之三的患者至少在 3 个月内没有癫痫发作，其中一半的患者至少在一年内没有癫痫发作。然而，评估药物的有效性很困难，因为必须考虑可能的年龄依赖性自发性癫痫发作缓解。 (C) 2016 年英国癫痫协会。由爱思唯尔有限公司出版。保留所有权利。
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.