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Genetic Biomarkers in Epilepsy

机译:癫痫的遗传生物标志物

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摘要

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.Electronic supplementary materialThe online version of this article (doi:10.1007/s13311-014-0262-5) contains supplementary material, which is available to authorized users.
机译:鉴定用于疾病结果预测和改善药物反应以及避免副作用的有效生物标记物是医学领域中一个新兴的兴趣领域。个体化治疗的概念在治疗癫痫患者中变得越来越重要,因为疾病预后和治疗结果的预测指标仍然有限。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和AED的副作用,而不是基于有效性数据。尽管使用了标准剂量的AED,但部分地通过治疗监测加以补充,但通常无法预测单个患者对特定AED的反应,并且抗癫痫治疗患者的标准护理或多或少取决于试验和错误。因此,迫切需要有效的预测生物标记物来指导癫痫患者的个性化个性化治疗策略,而这一领域仍处于起步阶段。本文将基因组因素作为AED治疗个别概念的一部分进行了概述,总结了影响疾病预后和对AED反应(包括副作用)的实例。电子补充材料本文的在线版本(doi:10.1007 / s13311-014) -0262-5)包含补充材料,授权用户可以使用。

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