难治性癫痫相关皮质发育畸形的病理研究及分类进展  

Advances of pathological research and classification in malformations of cortical development associated with refractory epilepsy

作　　者：付永娟[1] 朴月善[1] Fu Yongjuan;Piao Yueshan(Department of Pathology,Xuanwu Hospital,Capital Medical University National Center for Neurological Disorders Clinical Diagnosis,Treatment and Research Center,Capital Medical University Beijing 100053,China)

机构地区：[1]首都医科大学宣武医院病理科、国家神经疾病医学中心、首都医科大学癫痫临床诊疗与研究中心,北京100053

出　　处：《中华病理学杂志》2024年第5期419-424,共6页Chinese Journal of Pathology

基　　金：北京市自然科学基金(7242070)。

摘　　要：随着基因检测技术、神经影像学及神经电生理技术的迅猛发展,我们对皮质发育畸形的认识不断深入和更新,尤其是哺乳动物雷帕霉素靶蛋白(mTOR)信号通路相关的基因突变在局灶性皮质发育不良(FCD)中被陆续发现。同时,2011年国际抗癫痫联盟(ILAE)发布的有关FCD的分类共识在诊断实践中遇到了问题和挑战。因此,2022年ILAE根据分子遗传学10年来的进展,提出了FCD分类的更新版,主要在分类体系中增加了"白质病变",还建议综合病理组织学、影像学及分子检测结果,进行多层次整合诊断,来实现可靠的、临床相关的和治疗性靶向的组织诊断。With rapid development of genetic testing techniques,neuroimaging and neuroelectrophysiological technologies,our understanding of malformations of cortical development continues to be deepened and updated.In particular,mutations in genes related to the mammalian target of rapamycin(mTOR)signaling pathway have been successively discovered in focal cortical dysplasia(FCD).At the same time,the classification consensus on FCD issued by the International League Against Epilepsy(ILAE)in 2011 has encountered problems and challenges in diagnostic practice.Therefore,in 2022,ILAE proposed an updated version of the FCD classification based on the progress in molecular genetics over the past decade.The main addition to the classification system is"white matter lesions,"and it is also suggested to integrate histopathological,neuroimaging,and molecular testing results for multi-level integrated diagnosis to achieve reliable,clinically relevant,and therapeutic targeted final diagnosis.

关 键 词：癫痫 皮质发育畸形 局灶性皮质发育不良 病理分类 

分 类 号：R742.1[医药卫生—神经病学与精神病学]