• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

A novel pathogenic variant in CNOT3 causing neurodevelopmental delay and epilepsy.

作者信息

Lv Jin, Ming Wen-Jie, Zheng Yang, Xu Sha, Fang Gao-Li, Zhang Qing, Ding Yao, Ding Mei-Ping

机构信息

Department of Neurology, Epilepsy Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, China; Department of Neurology, Lishui People's Hospital, The Sixth Affiliated Hospital of Wenzhou Medical University, Lishui 323000, China.

Department of Neurology, Epilepsy Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, China.

出版信息

Seizure. 2023 Apr;107:104-106. doi: 10.1016/j.seizure.2023.03.022. Epub 2023 Mar 26.

DOI:10.1016/j.seizure.2023.03.022
PMID:37003183
Abstract
摘要

相似文献

1
A novel pathogenic variant in CNOT3 causing neurodevelopmental delay and epilepsy.CNOT3基因中的一种新型致病变异导致神经发育迟缓与癫痫。
Seizure. 2023 Apr;107:104-106. doi: 10.1016/j.seizure.2023.03.022. Epub 2023 Mar 26.
2
Prevalence of Angelman syndrome amongst referrals with epilepsy and developmental delay.
Am J Med Genet A. 2007 Sep 15;143A(18):2189-91. doi: 10.1002/ajmg.a.31879.
3
Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok-Fisher syndrome suggests the presence of a POU3F3-related SNIBFIS endophenotype: A case report.Snijders Blok-Fisher 综合征伴严重发育迟缓、癫痫和血管瘤提示存在 POU3F3 相关的 SNIBFIS 表现型:病例报告。
Am J Med Genet A. 2021 May;185(5):1554-1560. doi: 10.1002/ajmg.a.62135. Epub 2021 Mar 1.
4
Two patients with 19p13.2 deletion (Malan syndrome) involving NFIX and CACNA1A with overgrowth, developmental delay, and epilepsy.两名患有19p13.2缺失(马兰综合征)的患者,该缺失涉及NFIX和CACNA1A基因,伴有生长过度、发育迟缓及癫痫。
Clin Dysmorphol. 2017 Oct;26(4):224-227. doi: 10.1097/MCD.0000000000000185.
5
A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay.一种与严重X连锁癫痫和严重发育迟缓相关的新型PIGA变异体。
Seizure. 2018 Mar;56:1-3. doi: 10.1016/j.seizure.2018.01.013. Epub 2018 Jan 31.
6
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.Array 比较基因组杂交技术在 102 例癫痫伴额外神经发育障碍患者中的应用。
Am J Med Genet B Neuropsychiatr Genet. 2012 Oct;159B(7):760-71. doi: 10.1002/ajmg.b.32081. Epub 2012 Jul 23.
7
Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients.三名中国患者中与CNOT3相关的神经发育障碍的临床特征。
Neurogenetics. 2023 Apr;24(2):129-136. doi: 10.1007/s10048-023-00713-z. Epub 2023 Feb 21.
8
De novo variants in CNOT3 cause a variable neurodevelopmental disorder.CNOT3 中的从头变异导致可变的神经发育障碍。
Eur J Hum Genet. 2019 Nov;27(11):1677-1682. doi: 10.1038/s41431-019-0413-6. Epub 2019 Jun 14.
9
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.AP1G1 中的新生和双等位基因变异导致伴有发育迟缓、智力残疾和癫痫的神经发育障碍。
Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. doi: 10.1016/j.ajhg.2021.05.007. Epub 2021 Jun 7.
10
[Analysis of SYNE1 gene variant in an infant featuring epilepsy and developmental disorders].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Nov 10;36(11):1111-1114. doi: 10.3760/cma.j.issn.1003-9406.2019.11.014.

引用本文的文献

1
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.与CNOT3相关的神经发育障碍的综合分析:表型和基因型特征
Eur J Hum Genet. 2025 Jun 25. doi: 10.1038/s41431-025-01884-z.
2
mRNA stability fine-tunes gene expression in the developing cortex to control neurogenesis.信使核糖核酸稳定性在发育中的皮质中微调基因表达以控制神经发生。
PLoS Biol. 2025 Feb 6;23(2):e3003031. doi: 10.1371/journal.pbio.3003031. eCollection 2025 Feb.
3
Novel mutation identified in causes IDDSADF: a case report and literature review.
在 中发现的新突变导致 IDDSADF:病例报告及文献复习。
J Int Med Res. 2024 Aug;52(8):3000605241272533. doi: 10.1177/03000605241272533.