无脑回-巨脑回基因研究进展  

Advance in genetics of lissencephaly

作　　者：林文鑫(综述) 柴莹莹(审校) 郑帼(审校)[1] 黄艳军(审校)[1] Lin Wenxin;Chai Yingying;Zheng Guo;Huang yanjun(Department of Neurology the Affiliated Children′s Hospital of Nanjing Medical University,Nanjing 210008,China)

机构地区：[1]南京医科大学附属儿童医院神经内科,210008

出　　处：《国际儿科学杂志》2021年第11期766-769,共4页International Journal of Pediatrics

基　　金：江苏省六大人才高峰资助项目(项目编号:2016-YY-55)。

摘　　要：无脑回-巨脑回是一组在早期脑发育过程中神经元异常迁移所继发的皮层发育障碍疾病, 主要特征为脑回宽大、脑沟浅小、皮层增厚, 临床上患者常有癫痫、智力低下和发育迟缓等问题, 目前尚无特异性治疗方法, 大部分患者预后不良。近年来, 随着基因筛查在临床上的广泛应用, 发现了诸多与无脑回-巨脑回相关的致病基因, 明确其发病机制及临床表型变得尤为重要。现结合相关文献对无脑回-巨脑回相关基因进行综述。Lissencephaly(LIS)is a group of abnormal cerebral cortical dysplasias caused by the defective migration of neurons and it is characterized by thickening of the cerebral cortex,widening of the gyri and disappearance or shallowness of the sulci.Clinically,the patients often have manifestations such as epilepsy,mental retardation,and developmental delay.At present,there is no specific treatment and most patients have poor prognosis.There is currently no specific treatment,and most patients have a poor prognosis.Recently,with the widespreading clinical application of genetic testing,many disease-causing genes related to the lissencephaly have been discovered,so it is important for us to study its pathogenesis and the mode of inheritance.In this study,we reviewed the recent literature on genes associated with lissencephaly.

关 键 词：无脑回-巨脑回 基因 癫痫 

分 类 号：R74[医药卫生—神经病学与精神病学]