神经病学与神经康复学杂志2025，Vol.21Issue(6)：455-466,12.DOI:10.12022/jnnr.2025-0264
遗传性癫痫的精准诊疗进展
Advances in the precise diagnosis and treatment of genetic epilepsies
摘要
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引用本文复制引用
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):455-466,12.基金项目
国家自然科学基金(82371464,82171454) （82371464,82171454）
湖南省杰出青年基金(2024JJ2096)National Natural Science Foundation of China(82371464,82171454) （2024JJ2096）
Distinguished Young Scholars of Hunan Province,China(2024JJ2096) （2024JJ2096）
