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[遗传性癫痫与精准药物治疗的研究进展]

[Research advances in hereditary epilepsy and precision drug therapy].

作者信息

Lyu Ge, Han Yun-Li

机构信息

Department of Pediatrics, First Affiliated Hospital of Guangxi Medical University, Nanning 530000, China.

出版信息

Zhongguo Dang Dai Er Ke Za Zhi. 2017 Oct;19(10):1118-1123. doi: 10.7499/j.issn.1008-8830.2017.10.017.

Abstract

Epilepsy is a common nervous system disease. It has been found that the pathogenesis of epilepsy is associated mutations in various genes, including genes encoding voltage-dependent ion channel, genes encoding ligand-gated ion channel, and solute carrier family genes. Different types of epilepsy caused by different mutations have different responses to drugs, and therefore, diagnosis and medication guidance based on genes are new thoughts for developing therapies. With the application of next-generation sequencing technology, more and more genes will be determined, which helps to further study the pathogenic mechanism of mutant genes and provides a basis for precision drug therapy for epilepsy.

摘要

癫痫是一种常见的神经系统疾病。现已发现,癫痫的发病机制与多种基因的突变有关,包括编码电压依赖性离子通道的基因、编码配体门控离子通道的基因以及溶质载体家族基因。由不同突变引起的不同类型癫痫对药物有不同反应,因此,基于基因的诊断和用药指导是开发治疗方法的新思路。随着下一代测序技术的应用,将确定越来越多的基因,这有助于进一步研究突变基因的致病机制,并为癫痫的精准药物治疗提供依据。

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