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

doi:10.3969/j.issn.1672-6731.2023.02.008

Abstract

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

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

LI Zi-lin, HU Wen-han, ZHANG Kai. Research progress on common pathological types of somatic mutation in epilepsy surgery[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2023, 23(2): 115-123.

李字林, 胡文瀚, 张凯. 癫痫外科常见病理类型体细胞突变研究进展[J]. 中国现代神经疾病杂志, 2023, 23(2): 115-123.

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