Focal cortical dysplasia type Ⅱ:review of neuropathological manifestations and pathogenetic mechanisms  

作　　者：Yubao Fang Yaqian Zhang Tiancai Huang Shengyu Yang Yinchao Li Liemin Zhou 

机构地区：[1]Department of Neurology,The Seventh Affiliated Hospital of Sun Yat-sen University,Shenzhen 518107,China

出　　处：《Acta Epileptologica》2025年第1期32-44,共13页癫痫学报(英文)

基　　金：supported by the Shenzhen Municipal Science and Technology key projects of the Basic Research Program(file no.LMZ JCYJ20220818102007015);the National Natural Science Foundation of China(file no.LMZ 82071447,82371456).

摘　　要：Focal cortical dysplasia(FCD)is an important cause of intractable epilepsy,with FCD type Ⅱ(FCD Ⅱ)being the most common subtype.FCD Ⅱ is characterized by cortical dyslamination accompanied by dysmorphic neurons(DNs).Identifying the molecular alterations and targetable biomarkers is pivotal for developing therapies.Here,we provide a detailed description of the neuropathological manifestations of FCD Ⅱ,including morphological alterations and immunophenotypic profiles,indicating that abnormal cells exhibit a diverse spectrum of mixed differentiation states.Furthermore,we summarize current research on the pathogenetic mechanisms,indicating that gene mutations,epigenetic alterations,cortical developmental protein disturbances,inflammatory processes,and extrinsic damages may lead to abnormal neuronal proliferation and migration,thereby contributing to the emergence and progression of FCD Ⅱ.These findings not only enhance our understanding of the pathogenesis of FCD Ⅱ but also offer new directions for clinical diagnosis and treatment.Future research should further explore the interactions among these factors and employ multidisciplinary approaches to advance our understanding of FCD Ⅱ.

关 键 词：Focal cortical dysplasia Abnormal differentiation Gene mutations Epigenetic alterations 

分 类 号：R74[医药卫生—神经病学与精神病学]