Advance in genetics of lissencephaly
10.3760/cma.j.issn.1673-4408.2021.11.011
- VernacularTitle:无脑回-巨脑回基因研究进展
- Author:
Wenxin LIN
1
;
Yingying CHAI
;
Guo ZHENG
;
Yanjun HUANG
Author Information
1. 南京医科大学附属儿童医院神经内科 210008
- Keywords:
Lissencephaly;
Gene;
Epilepsy
- From:
International Journal of Pediatrics
2021;48(11):766-769
- CountryChina
- Language:Chinese
-
Abstract:
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.
