中国现代神经疾病杂志 ›› 2023, Vol. 23 ›› Issue (2): 115-123. doi: 10.3969/j.issn.1672-6731.2023.02.008

• 癫痫及发作性疾病 • 上一篇    下一篇

2 癫痫外科常见病理类型体细胞突变研究进展

李字林1, 胡文瀚1,2, 张凯1,2   

  1. 1 100070 首都医科大学附属北京天坛医院神经外科;
    2 100070 首都医科大学附属北京天坛医院北京市神经外科研究所
  • 收稿日期:2023-02-23 出版日期:2023-02-25 发布日期:2023-03-01
  • 通讯作者: 张凯,Email:zhangkai62035@163.com
  • 基金资助:
    国家重点研发计划项目(项目编号:2021YFC2401201);国家自然科学基金资助项目(项目编号:82071457)

Research progress on common pathological types of somatic mutation in epilepsy surgery

LI Zi-lin1, HU Wen-han1,2, ZHANG Kai1,2   

  1. 1 Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China;
    2 Beijing Neurosurgical Institute, Capital Medical University, Beijing 100070, China
  • Received:2023-02-23 Online:2023-02-25 Published:2023-03-01
  • Supported by:
    This study was supported by National Key Research and Development Program of China (No. 2021YFC2401201), and the National Natural Science Foundation of China (No. 82071457).

摘要: 癫痫是临床常见的神经系统疾病,结构性病因导致的癫痫手术切除病灶可治愈,一直是癫痫外科关注的重点。随着基因检测技术的发展,发现结构性病因可能由体细胞突变所致。本文综述皮质发育畸形、长期癫痫相关肿瘤、海马硬化和下丘脑错构瘤4种癫痫外科常见病理类型体细胞突变相关致病基因及其研究进展,以及对手术方案制定和手术预后的影响,以为癫痫外科治疗提供新的思路。

关键词: 癫痫, 基因, 突变, 病理学, 综述

Abstract: Epilepsy is a common neurological disease in clinic. Epilepsy caused by structural causes can be cured by surgery, which has been the focus of attention in the field of epilepsy surgery. With the development of gene sequencing technology, more and more studies have found that structural etiology may be caused by somatic mutations of genes. In this paper, somatic mutation-related pathogenic genes of four common pathological types of epilepsy surgery, including malformation of cortical development (MCD), long-term epilepsy associated tumor (LEAT), hippocampal sclerosis (HS) and hypothalamic hamartoma (HH), were reviewed, and their effects on surgical protocol formulation and prognosis were reviewed, in order to provide a new idea for the treatment of epilepsy.

Key words: Epilepsy, Genes, Mutation, Pathology, Review