遗传性癫痫的精准诊疗进展

陈玥瑶, 李 娟, 龙泓羽, 肖 波 , 龙莉莉

神经病学与神经康复学杂志 ›› 2025, Vol. 21 ›› Issue (6) : 455-466.

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神经病学与神经康复学杂志 ›› 2025, Vol. 21 ›› Issue (6) : 455-466. DOI: 10.12022/jnnr.2025-0264
专家笔谈

遗传性癫痫的精准诊疗进展

  • 陈玥瑶1,2,3 ,李 娟1,2,3,4 ,龙泓羽1,2,3 ,肖 波1,2,3 ,龙莉莉1,2,3
作者信息 +

Advances in the precise diagnosis and treatment of genetic epilepsies

  • CHEN Yueyao1, 2, 3 , LI Juan1, 2, 3, 4 , LONG Hongyu1, 2, 3 , XIAO Bo1, 2, 3 , LONG Lili1, 2, 3
Author information +
文章历史 +

摘要

遗传性癫痫是指由遗传缺陷直接引起痫性发作,且发作本身构成疾病核心临床表现的一类癫痫。近年来,伴随基因检测技术的快速发展,癫痫相关的遗传机制逐渐被揭示,促进了该疾病精准诊疗的进步。基因检测已成为遗传性癫痫临床诊断与治疗的关键手段,基于特定基因突变及致病机制的深入解析,可为患者制订更具针对性的个体化治疗方案。本文旨在重点阐述遗传性癫痫的病因分类及其精准诊疗领域的最新研究进展。总体来看,遗传性癫痫的精准医疗前景广阔,未来仍需通过多学科协作与持续努力,进一步深化遗传学在癫痫临床实践中的转化与应用。

Abstract

Hereditary epilepsy refers to a type of epilepsy in which seizures are directly triggered by genetic defects and constitute the core clinical manifestation of the disease. In recent years, with the rapid advancement of gene detection technologies, the genetic mechanisms associated with epilepsy have been progressively elucidated, thereby driving progress in the precision diagnosis and treatment of the condition. Genetic testing has become a crucial tool for the clinical diagnosis and management of hereditary epilepsy. Based on in-depth analysis of specific gene mutations and pathogenic mechanisms, more targeted individualized treatment plans can be developed for patients. This article aims to focus on the etiological classification of hereditary epilepsy and the latest research advances in its precision diagnosis and treatment. Overall, the prospects for precision medicine in hereditary epilepsy are promising. Moving forward, continued multidisciplinary collaboration and sustained efforts are needed to further integrate genetics into clinical practice for epilepsy.

关键词

癫痫 / 基因 / 遗传性 / 精准治疗

Key words

Epilepsy / Gene / Hereditary / Precision therapy

引用本文

导出引用
陈玥瑶, 李 娟, 龙泓羽, 肖 波 , 龙莉莉. 遗传性癫痫的精准诊疗进展[J]. 神经病学与神经康复学杂志. 2025, 21(6): 455-466 https://doi.org/10.12022/jnnr.2025-0264
CHEN Yueyao , LI Juan, LONG Hongyu, XIAO Bo , LONG Lili. Advances in the precise diagnosis and treatment of genetic epilepsies[J]. Journal of Neurology and Neurorehabilitation. 2025, 21(6): 455-466 https://doi.org/10.12022/jnnr.2025-0264

基金

1. 国家自然科学基金(82371464, 82171454)
2. 湖南省杰出青年基金(2024JJ2096)

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