作　　者： (邓小龙）; (胡春辉）; (孙丹）; (刘智胜）;

机构地区： 华中科技大学同济医学院附属武汉儿童医院神经内科,武汉430016

出　　处： 《中国医师杂志》 2017年第8期1125-1129,共5页

摘　　要： 癫痫遗传病因的研究进展提高了对潜在致痫机制的认识，使靶向治疗成为可能。理想的抗癫痫药物，是一种能够影响由致病性突变导致功能变化的药物。在此，笔者将描述精准治疗在遗传性癫痫中的应用。目前已经明确的精准治疗包括生酮饮食在葡萄糖转运因子1（GLUT1）缺乏患者中的使用，钠通道阻滞剂在KCNQ2脑病中的应用，雷帕霉素靶蛋白（mTOR）通路抑制剂在SCN2A和SCN8A脑病中的应用等。这些现行可用的主要治疗，被重新定义用于癫痫的精准治疗。主要针对在遗传性癫痫中靶向治疗的新型药物的发展，将大大提高癫痫的治疗效果。 The increasing identification of genetic causes for epilepsy over the recent years improves the understanding of the underlying epileptog enic process, and allows for the possibility of directed therapeutic approaches. An ideal antiepileptic therapy consists of a drug which is able to influence the functional changes caused by a specific pathogenic variant. In this review, we describe the current precise medicine approaches in genetic epilepsies. Currently established or investigated precise medicine treatments include the ketogenic diet in patients with glucose transporter typel （ GLUT1 ） deficiency, sodium channel blockers in patients with KCNQ2 mutations, and mechanistic target of rapamycin （mTOR）-inhibitors in patients with SCN2A and SCN8A mutations. These predominantly represent already available treatments that were repurposed for use in epilepsy. The development of new therapeutic agents aiming at targets identified in genetic epilepsies will advance epilepsy treatment considerably.

关 键 词： 癫痫 药物疗法 遗传学 综述