Research progress of copy number variations associated with infantile spasms
10.3760/cma.j.cn101070-20200427-00735
- VernacularTitle:婴儿痉挛症相关拷贝数变异研究进展
- Author:
Yuxin XU
1
;
Jianmin ZHONG
Author Information
1. 江西省儿童医院神经内科，南昌 330006
- Keywords:
Infantile spasms;
West syndrome;
Epileptic encephalopathy;
Copy number variations
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(18):1434-1437
- CountryChina
- Language:Chinese
-
Abstract:
Infantile spasms (ISs) is an age-dependent epileptic encephalopathy, which is highly associated with cognitive impairment, autism spectrum disorder and developmental delay.At present, inheritance patterns, including chromosomal abnormalities, copy number variations (CNVs), and monogenic diseases have been found to correlated with the etiology of ISs.Among them, CNVs or structural chromosome rearrangements are of great significance in the pathogenesis of ISs.This article aims to review the research progress of CNVs and ISs, thus providing references for further clarifying the molecular mechanism and genetic basis of ISs.
