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1
Genetic biomarkers in epilepsy.癫痫中的遗传生物标志物
Neurotherapeutics. 2014 Apr;11(2):324-33. doi: 10.1007/s13311-014-0262-5.
2
AntiEpileptic drug Monitoring in PREgnancy (EMPiRE): a double-blind randomised trial on effectiveness and acceptability of monitoring strategies.妊娠抗癫痫药物监测(EMPiRE):监测策略有效性和可接受性的双盲随机试验。
Health Technol Assess. 2018 May;22(23):1-152. doi: 10.3310/hta22230.
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Psychiatric and behavioral side effects of antiepileptic drugs in adults with epilepsy.抗癫痫药物在成年癫痫患者中的精神和行为副作用。
Epilepsy Behav. 2017 Nov;76:24-31. doi: 10.1016/j.yebeh.2017.08.039. Epub 2017 Sep 18.
4
Personalized medicine approaches in epilepsy.癫痫的个体化医学方法。
J Intern Med. 2015 Feb;277(2):218-234. doi: 10.1111/joim.12322.
5
Current challenges in the management of epilepsy.癫痫管理中的当前挑战。
Am J Manag Care. 2011 Jun;17 Suppl 7:S195-203.
6
Antiepileptic Drug Treatment of Epilepsy in Children.儿童癫痫的抗癫痫药物治疗
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ILAE treatment guidelines: evidence-based analysis of antiepileptic drug efficacy and effectiveness as initial monotherapy for epileptic seizures and syndromes.国际抗癫痫联盟治疗指南:抗癫痫药物作为癫痫发作和综合征初始单药治疗的疗效和有效性的循证分析
Epilepsia. 2006 Jul;47(7):1094-120. doi: 10.1111/j.1528-1167.2006.00585.x.
8
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Brain Nerve. 2011 Apr;63(4):295-9.
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Strategies for successful management of older patients with seizures.老年癫痫患者成功管理策略。
Geriatrics. 1999 Dec;54(12):31, 34, 39-40 passim.
10
Role of Pharmacogenomics in Antiepileptic Drug Therapy: Current Status and Future Perspectives.药物基因组学在抗癫痫药物治疗中的作用:现状与未来展望。
Curr Pharm Des. 2017;23(37):5760-5765. doi: 10.2174/1381612823666170911111536.

引用本文的文献

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4
EEG biomarker candidates for the identification of epilepsy.用于癫痫识别的脑电图生物标志物候选物。
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Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy.评估罕见遗传变异在耐药性、非病变局灶性癫痫中的作用。
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Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.癫痫相关的电压门控钠通道病:综述
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Impact of Genetic Polymorphisms of ABCB1 (MDR1, P-Glycoprotein) on Drug Disposition and Potential Clinical Implications: Update of the Literature.ABCB1(多药耐药蛋白1,P-糖蛋白)基因多态性对药物处置的影响及潜在临床意义:文献综述
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本文引用的文献

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Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.KCNQ2 突变的显性负效应与癫痫性脑病有关。
Ann Neurol. 2014 Mar;75(3):382-94. doi: 10.1002/ana.24080. Epub 2014 Mar 18.
2
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.癫痫、海马硬化和热性惊厥与 SCN1A 周围常见的遗传变异有关。
Brain. 2013 Oct;136(Pt 10):3140-50. doi: 10.1093/brain/awt233. Epub 2013 Sep 6.
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Epilepsy biomarkers.癫痫生物标志物。
Epilepsia. 2013 Aug;54 Suppl 4(0 4):61-9. doi: 10.1111/epi.12299.
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P-glycoprotein expression and function in patients with temporal lobe epilepsy: a case-control study.P-糖蛋白在颞叶癫痫患者中的表达和功能:一项病例对照研究。
Lancet Neurol. 2013 Aug;12(8):777-85. doi: 10.1016/S1474-4422(13)70109-1. Epub 2013 Jun 18.
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Expression variability of absorption, distribution, metabolism, excretion-related microRNAs in human liver: influence of nongenetic factors and association with gene expression.人肝中与吸收、分布、代谢和排泄相关的 microRNAs 的表达变异性:非遗传因素的影响及其与基因表达的关联。
Drug Metab Dispos. 2013 Oct;41(10):1752-62. doi: 10.1124/dmd.113.052126. Epub 2013 Jun 3.
6
HLA-B alleles associated with severe cutaneous reactions to antiepileptic drugs in Han Chinese.与汉族人群抗癫痫药严重皮肤不良反应相关的 HLA-B 等位基因。
Epilepsia. 2013 Jul;54(7):1307-14. doi: 10.1111/epi.12217. Epub 2013 May 20.
7
Impact of P-glycoprotein and breast cancer resistance protein on the brain distribution of antiepileptic drugs in knockout mouse models.P-糖蛋白和乳腺癌耐药蛋白对抗癫痫药物在基因敲除小鼠模型脑内分布的影响。
Eur J Pharmacol. 2013 Jun 15;710(1-3):20-8. doi: 10.1016/j.ejphar.2013.03.049. Epub 2013 Apr 12.
8
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies.PRRT2 基因突变不是婴儿癫痫性脑病的常见病因。
Epilepsia. 2013 May;54(5):e86-9. doi: 10.1111/epi.12167. Epub 2013 Apr 8.
9
Cytochrome P450 enzymes in drug metabolism: regulation of gene expression, enzyme activities, and impact of genetic variation.细胞色素 P450 酶在药物代谢中的作用:基因表达调控、酶活性及遗传变异的影响。
Pharmacol Ther. 2013 Apr;138(1):103-41. doi: 10.1016/j.pharmthera.2012.12.007. Epub 2013 Jan 16.
10
PRRT2-related disorders: further PKD and ICCA cases and review of the literature.PRRT2 相关疾病:更多 PKD 和 ICCA 病例及文献复习。
J Neurol. 2013 May;260(5):1234-44. doi: 10.1007/s00415-012-6777-y. Epub 2013 Jan 9.

癫痫中的遗传生物标志物

Genetic biomarkers in epilepsy.

作者信息

Weber Yvonne G, Nies Anne T, Schwab Matthias, Lerche Holger

机构信息

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany,

出版信息

Neurotherapeutics. 2014 Apr;11(2):324-33. doi: 10.1007/s13311-014-0262-5.

DOI:10.1007/s13311-014-0262-5
PMID:24566939
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3996127/
Abstract

The identification of valid biomarkers for outcome prediction of diseases and improvement of drug response, as well as avoidance of side effects is an emerging field of interest in medicine. The concept of individualized therapy is becoming increasingly important in the treatment of patients with epilepsy, as predictive markers for disease prognosis and treatment outcome are still limited. Currently, the clinical decision process for selection of an antiepileptic drug (AED) is predominately based on the patient's epileptic syndrome and side effect profiles of the AEDs, but not on effectiveness data. Although standard dosages of AEDs are used, supplemented, in part, by therapeutic monitoring, the response of an individual patient to a specific AED is generally unpredictable, and the standard care of patients in antiepileptic treatment is more or less based on trial and error. Therefore, there is an urgent need for valid predictive biomarkers to guide patient-tailored individualized treatment strategies in epilepsy, a research area that is still in its infancy. This review focuses on genomic factors as part of an individual concept for AED therapy summarizing examples that influence the prognosis of the disease and the response to AEDs, including side effects.

摘要

识别有效的生物标志物以预测疾病预后、改善药物反应并避免副作用,是医学领域一个新兴的研究热点。在癫痫患者的治疗中,个体化治疗的概念变得越来越重要,因为用于疾病预后和治疗效果预测的标志物仍然有限。目前,选择抗癫痫药物(AED)的临床决策过程主要基于患者的癫痫综合征以及AED的副作用情况,而非有效性数据。尽管使用了AED的标准剂量,并部分辅以治疗监测,但个体患者对特定AED的反应通常无法预测,抗癫痫治疗中患者的标准护理或多或少基于试错法。因此,迫切需要有效的预测性生物标志物来指导癫痫患者的个体化治疗策略,这一研究领域仍处于起步阶段。本综述聚焦于基因组因素,作为AED治疗个体化概念的一部分,总结了影响疾病预后和对AED反应(包括副作用)的实例。