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Genetic polymorphisms of CYP3A5 CHRM2 and ZNF498 and their association with epilepsy susceptibility: a pharmacogenetic and case–control study

机译:CYP3A5CHRM2和ZNF498的遗传多态性及其与癫痫易感性的关系:一项药物遗传学和病例对照研究

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摘要

BackgroundA total of 50 million persons were diagnosed worldwide with epilepsy. One-third of them are experiencing debilitating seizures despite optimum anti‐epileptic drugs (AEDs) treatment. Several studies have suggested that CYP3A5, CHRM2, and ZNF498 influence the pharmacokinetics of AEDs. Therefore, the severity of the disease as well as the degree of response to the AEDs could be affected by the genetic polymorphisms within these genes.
机译:背景技术在全球范围内,共有5000万人被诊断患有癫痫病。尽管有最佳的抗癫痫药(AEDs)治疗,其中三分之一的患者仍出现令人衰弱的癫痫发作。多项研究表明,CYP3A5,CHRM2和ZNF498影响AED的药代动力学。因此,疾病的严重程度以及对AED的反应程度可能受这些基因内的遗传多态性影响。

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