癫痫的精准治疗:当前研究进展与展望

周梦怡, 木其尔, 马肖荟, 孟红梅

神经病学与神经康复学杂志 ›› 2025, Vol. 21 ›› Issue (6) : 474-482.

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神经病学与神经康复学杂志 ›› 2025, Vol. 21 ›› Issue (6) : 474-482. DOI: 10.12022/jnnr.2025-0265
综述

癫痫的精准治疗:当前研究进展与展望

  • 周梦怡,木其尔,马肖荟,孟红梅
作者信息 +

Precision therapy for epilepsy: Current advances and perspectives

  • ZHOU Mengyi, BAO Muqier, MA Xiaohui, MENG Hongmei
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文章历史 +

摘要

癫痫是一种常见的慢性脑疾病,约30%患者对传统抗癫痫药物耐药,亟需精准医学策略实现个体化治疗。本文系统综述癫痫精准治疗的关键进展与未来方向,其核心框架建立在3大支柱之上:首先,基于遗传病因的靶向治疗是精准医学的基石,通过基因诊断明确致病突变(如SCN1AKCNQ2等),可针对性应用通道调节剂、受体拮抗剂或生酮饮食等对因治疗策略;其次,药物基因组学通过分析CYP2C9、HLA-B*15∶02等关键基因,指导传统抗癫痫药物的个体化选择,有效预测疗效及预防严重不良反应;第三,针对药物难治性癫痫,精准外科与神经调控技术通过致痫灶精确定位,为患者提供了有效的干预手段。未来整合多组学数据、研发新型靶向疗法并突破临床转化瓶颈,将是推动精准治疗惠及更广泛患者群体的关键。

Abstract

Epilepsy is a common chronic brain disorder, with approximately 30% of patients being resistant to conventional anti-epileptic drugs, necessitating precision medicine strategies for individualized treatment. This article systematically reviews the key advances and future directions in the precision treatment of epilepsy, , with its core framework built on three main pillars. First, targeted therapies based on genetic etiology serves as the cornerstone of precision medicine. By using genetic diagnostics to identify pathogenic mutations (such as in SCN1A and KCNQ2), treatment strategies can be tailored with channel modulators, receptor antagonists, or ketogenic diets that address the underlying causes. Second, pharmacogenomics aids in the personalized selection of conventional anti-epileptic drugs by analyzing key genes such as CYP2C9 and HLA-B*15:02, effectively predicting therapeutic efficacy and preventing severe adverse reactions. Third, for drug-resistant epilepsy, precision surgical techniques and neuromodulation methods accurately localize the epileptogenic focus, providing effective intervention options for patients. In the future, integrating multi-omics data, developing of novel targeted therapies, and overcoming clinical translation bottlenecks will be crucial in making precision treatments accessible to a broader patient population.

关键词

癫痫 / 精准治疗 / 药物基因组学 / 基因治疗 / 神经调控

Key words

Epilepsy / Precision therapy / Pharmacogenomics / Gene therapy / Neuromodulation

引用本文

导出引用
周梦怡, 木其尔, 马肖荟, 孟红梅. 癫痫的精准治疗:当前研究进展与展望[J]. 神经病学与神经康复学杂志. 2025, 21(6): 474-482 https://doi.org/10.12022/jnnr.2025-0265
ZHOU Mengyi, BAO Muqier, MA Xiaohui, MENG Hongmei. Precision therapy for epilepsy: Current advances and perspectives[J]. Journal of Neurology and Neurorehabilitation. 2025, 21(6): 474-482 https://doi.org/10.12022/jnnr.2025-0265

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