主要临床表现为癫痫的GATOR1复合物 基因突变患者手术分析  

Surgical analysis of patients with GATORI complex gene mutations presenting mainly with epilepsy

作　　者：贺晶[1] 周文静[1] 林久銮[1] 王海祥[1] 张冰清[1] 柏建军[1] HE Jing;ZHOU Wenjing;LIN Jiuluan;WANG Haixiang;ZHANG Bingqing;BAI Jianjun(Department of Epilepsy Center,Yuquan Hospital Tsinghua University,Beijing 100049,China)

机构地区：[1]清华大学玉泉医院癫痫中心,北京100049

出　　处：《癫痫杂志》2025年第2期100-105,共6页Journal of Epilepsy

基　　金：科技部“常见多发病防治研究”重点专项基金资助项目(2022YFC2503800)。

摘　　要：目的 总结GATOR1复合物基因突变基因特点及相关难治性癫痫患者的手术预后。方法 回顾性分析2019年5月-2024年8月就诊于清华大学玉泉医院癫痫中心并进行手术治疗的16例主要临床表现为难治性癫痫的GATOR1复合物基因突变患者,随访年限为0.5~4.0年,分析了患者的基因特点、临床资料、治疗及预后。结果 16例患者中男9例、女7例,起病年龄0.6~9.4岁,发作频率为每日1次至数十次。12例(75.0%)患者术后无发作,其中3例已经完全停药。脑电图发作为局灶性或者多灶性,均监测到临床发作。2例患者核磁共振成像阴性。16例中包括8例DEPDC5基因突变患者、5例NPRL3基因突变患者、3例NPRL2基因突变患者。结论 GATOR1复合物基因突变相关的难治性癫痫患者是良好的手术适应症,手术后无发作率很高,对于确诊的患者应考虑手术治疗。Background To summarize the genetic characteristics of GATORI complex gene mutations and the surgical prognosis of patients with refractory epilepsy.Methods A retrospective analysis was conducted on 16 patients with GATOR1 complex gene mutations who presented with mainly refractory epilepsy and underwent surgical treatment at the Epilepsy Center of Tsinghua University Yuquan Hospital from May 2019 to August 2024.The follow-up period ranged from 0.5 to 4.0 years.The genetic characteristics,clinical data,treatment,and prognosis of the patients were analyzed.ResultsAmong the 16 patients,9 were male and 7 were female,with an onset age ranging from 0.6 to 9.4 years,and seizure frequency ranging from once a day to dozens of times a day.Twelve patients(75.0%)had no seizures after surgery,and three of them had completely stopped taking medication.EEG were focal or multifocal,and all clinical seizures were monitored.Two patients had negative MRI.Among the 16 patients,there were 8 with DEPDC5 gene mutations,5 with NPRL3 gene mutations,and 3 with NPRL2 gene mutations.Conclusions Patients withrefractory epilepsy related to GATOR1 complex gene mutations are good surgical candidates,with a high rate of no seizures after surgery.For confirmed patients,surgical treatment should be considered.

关 键 词：难治性癫痫 GATOR1复合物 DEPDC5基因 NPRL2基因 NPRL3基因 

分 类 号：R74[医药卫生—神经病学与精神病学]