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胚胎发育时期因各种因素引起的神经元移行障碍,常导致大脑皮质发育畸形(Malformation of cortical development,MCD),也是引起患儿发育迟缓和癫痫的常见原因。快速发展的分子生物学、影像学和基因遗传学丰富了大脑皮质发育的相关知识,畸形的报道不仅在数量和种类上有所增长,同时相关研究已经确定了几个基因,可能破坏神经细胞增殖、移行以及晚期皮层组织形成的每一个重要阶段。不同的MCD在临床表现上也有很大的表型异质性,现就MCD的发生机制、易感基因进行阐述,为MCD后期研究提供参考依据。
Neuronal migration disorder due to various factors during embryonic development often leads to malformation of cortical development (MCD), which is also a common cause of stunting and epilepsy in children. Rapid development of molecular biology, imaging and genetics enrich the relevant knowledge of cerebral cortex development, deformity reports not only in the number and type of growth, while the relevant research has identified several genes that may undermine the proliferation of nerve cells , Migration and advanced cortical organization of each important stage. Different MCD in the clinical manifestations also have a great phenotypic heterogeneity, are on the mechanism of MCD, susceptibility genes are described for the MCD late research provides a reference.