Laboratory of Neuroscience, National Institute of Pediatrics, Ministry of Health, Coyoacán, Mexico City 04530, Mexico.
Laboratory of Experimental Nutrition, National Institute of Pediatrics, Ministry of Health, Coyoacán, Mexico City 04530, Mexico.
Mol Med Rep. 2020 Apr;21(4):1685-1701. doi: 10.3892/mmr.2020.10999. Epub 2020 Feb 24.
Epilepsy is a common, serious neurological disorder worldwide. Although this disease can be successfully treated in most cases, not all patients respond favorably to medical treatments, which can lead to pharmacoresistant epilepsy. Drug‑resistant epilepsy can be caused by a number of mechanisms that may involve environmental and genetic factors, as well as disease‑ and drug‑related factors. In recent years, numerous studies have demonstrated that genetic variation is involved in the drug resistance of epilepsy, especially genetic variations found in drug resistance‑related genes, including the voltage‑dependent sodium and potassium channels genes, and the metabolizer of endogenous and xenobiotic substances genes. The present review aimed to highlight the genetic variants that are involved in the regulation of drug resistance in epilepsy; a comprehensive understanding of the role of genetic variation in drug resistance will help us develop improved strategies to regulate drug resistance efficiently and determine the pathophysiological processes that underlie this common human neurological disease.
癫痫是一种在全球范围内常见且严重的神经障碍性疾病。尽管这种疾病在大多数情况下可以得到成功治疗，但并非所有患者对药物治疗都有良好反应，这可能导致耐药性癫痫。耐药性癫痫可能由多种机制引起，这些机制可能涉及环境和遗传因素以及与疾病和药物相关的因素。近年来，大量研究表明，遗传变异与癫痫的耐药性有关，特别是在耐药相关基因中发现的遗传变异，包括电压门控钠和钾通道基因以及内源性和外源性物质代谢酶基因。本综述旨在强调参与癫痫耐药性调节的遗传变异；全面了解遗传变异在耐药性中的作用将有助于我们制定出改进的策略来有效调节耐药性，并确定这种常见的人类神经疾病的病理生理过程。
