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皮质发育障碍是难治性癫痫的重要病因之一。一系列基因严格按时空顺序表达调控着正常的皮质发育过程。这些基因的突变或表达水平改变将导致多种类型的皮质发育障碍。本文以皮质发育三个关键步骤为划分依据,对常见皮质发育障碍类型的相关基因功能及突变致畸机制做一概述。
Cortical dysplasia is one of the important causes of refractory epilepsy. A series of genes regulate the normal process of cortical development strictly in time and space order. Mutations or changes in the expression of these genes will lead to many types of cortical dysplasias. In this paper, cortical development of the three key steps for the division of the basis of the common cortical developmental disorders related gene function and mutation teratogenic mechanisms are summarized.