Fang Yubao, Zhang Yaqian, Huang Tiancai, Yang Shengyu, Li Yinchao, Zhou Liemin
Department of Neurology, The Seventh Affiliated Hospital of Sun Yat-sen University, Shenzhen, 518107, China.
Acta Epileptol. 2025 Feb 17;7(1):12. doi: 10.1186/s42494-024-00195-y.
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.
局灶性皮质发育不良（FCD）是难治性癫痫的重要病因，其中II型局灶性皮质发育不良（FCD II）是最常见的亚型。FCD II的特征是皮质结构紊乱并伴有异型神经元（DNs）。识别分子改变和可靶向的生物标志物对于开发治疗方法至关重要。在此，我们详细描述了FCD II的神经病理学表现，包括形态学改变和免疫表型特征，表明异常细胞表现出多种混合分化状态。此外，我们总结了目前关于发病机制的研究，表明基因突变、表观遗传改变、皮质发育蛋白紊乱、炎症过程和外在损伤可能导致神经元异常增殖和迁移，从而促成FCD II的发生和进展。这些发现不仅加深了我们对FCD II发病机制的理解，也为临床诊断和治疗提供了新方向。未来的研究应进一步探索这些因素之间的相互作用，并采用多学科方法来增进我们对FCD II的认识。
