Research progress of copy number variations associated with infantile spasms / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
;
(24): 1434-1437, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-907986
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Applied Clinical Pediatrics
Ano de publicação:
2021
Tipo de documento:
Artigo
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