摘要
目的探讨癫痫为主要临床表现的结节性硬化(TSC)患者的基因突变情况,并了解TSC患者的基因型与临床表型、头皮脑电图之间的关系。方法2015年12月至2019年8月,对就诊于清华大学玉泉医院癫痫中心的43例临床表现为癫痫的TSC患者及家属进行了周围血液的提取,采用二代测序的方法对TSC基因进行检测,明确基因突变;并对所有患者进行头皮长程视频脑电图监测和磁共振检查,确定其发作起始区域、发作形式及致痫结节部位。结果43例中39例有TSC基因突变,4例未检测出基因突变。其中11例为TSC1型,28例为TSC2型。22个基因突变为新生突变。TSC2型患者比TSC1型患者起病年龄早,结节数量更多,但是两者在智力方面和痉挛病史方面并未见明显差异。发作期头皮脑电图局灶性起始患者28例,其中TSC2型患者中头皮脑电图局灶性起源的比例较高,为24例,占85.7%。结论TSC2型患者往往起病年龄早,虽然磁共振表现为多个结节但是发作期脑电图起始往往为局灶性起源。
Objective Tuberous sclerosis complex(TSC)is a multi-system disease with TSC1 and TSC2 genes as the pathogenic genes.The purpose of our study was to analyze the gene mutation in patients with TSC with epilepsy as the main clinical manifestation.The relationship between genotype and phenotype,scalp EEG in patients was analyzed.Methods The peripheral blood was extracted from 43 patients and their families.TSC gene was detected by second-generation sequencing.Long-term video EEG monitoring and MRI examination were performed to determine the onset area,seizure type and location of nodules.Results 39 patients had TSC gene mutation,4 patients did not detect the gene mutation.11 had TSC1 mutations and 28 had TSC2 mutations.22 mutations were de novo.Patients with TSC2 mutations had earlier seizure and more nodules than patients with TSC1 mutations,but no significant difference in intelligence and spasm were observed.28 patients had focal origin of scalp EEG,of which 85.7%of TSC2 mutations patients had focal origin.Conclusions Patients of TSC2 mutations always has an early onset age.Although MRI shows multiple nodules,the onset of EEG is mainly focal origin.
作者
贺晶
周文静
史洁
林久銮
张冰清
孙朝晖
He Jing;Zhou Wenjing;Shi Jie;Lin Jiuluan;Zhang Bingqing;Sun Zhaohui(Department of Epilepsy Center,Tsinghua University Yuquan Hospital,Beijing 100049,China)
出处
《中华医学杂志》
CAS
CSCD
北大核心
2020年第2期136-140,共5页
National Medical Journal of China
关键词
结节性硬化
癫痫
TSC基因突变
Tuberous sclerosis complex
Epilepsy
TSC gene mutation
作者简介
通信作者:周文静,Email:closejeo@hotmail.com。
