结构性癫痫可能致病的遗传变异与手术适应证及预后的关系探讨  

Role of possible pathogenic genetic variants in epilepsy with structural etiology:relationship with surgical decision-making and prognosis prediction

作　　者：周伯丞 孙宇[1] 吴晔[2] 蔡立新[1] Zhou Bocheng;Sun Yu;Wu Ye;Cai Lixin(Pediatric Epilepsy Center,Peking University First Hospital,Beijing 100034,China;Pediatric Department,Peking University First Hospital,Beijing 100034,China)

机构地区：[1]北京大学第一医院儿童癫痫中心,北京100034 [2]北京大学第一医院儿童癫痫中心儿科,北京100034

出　　处：《中华临床医师杂志（电子版）》2021年第8期571-577,共7页Chinese Journal of Clinicians(Electronic Edition)

摘　　要：手术治疗是药物难治性癫痫有效的治疗手段。对各种可能致病的遗传变异与手术疗效关系的探讨,有利于癫痫外科在术前更好地评估并筛选患者。本文重点回顾了海马硬化、局灶性皮质发育不良、结节性硬化、半侧巨脑畸形、下丘脑错构瘤以及海绵状血管瘤中胚系变异与手术疗效及手术适应证的关系,总结了癫痫相关肿瘤中的体细胞变异对手术预后的影响,并对现有的手术适应证提出建议。Epileptic surgery is an effective treatment for drug-refractory epilepsy.The exploration of the connection between various possible disease-causing genetic variants and the surgical outcome is of benefit to presurgical evaluation.In this paper,we discuss the correlation of surgical indications and outcomes with possible pathogenic genetic variants,mainly those in hippocampal sclerosis,focal cortical dysplasia,tuberous sclerosis,hemimegalencephaly,hypothalamic hamartoma,and cavernous hemangioma.We also discuss the impact of somatic variants on surgical outcomes in epilepsy-related tumors.Based on the summarized data,we make some recommendations for the existing surgical decision-making.

关 键 词：药物难治性癫痫 胚系变异 体细胞变异 手术适应证 手术预后 

分 类 号：R651.1[医药卫生—外科学]