• 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

相似文献

1
The neurodevelopmental spectrum seen with variants.与变异相关的神经发育谱系。
Pediatr Investig. 2022 Apr 26;6(2):147-148. doi: 10.1002/ped4.12323. eCollection 2022 Jun.
2
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.扩展 CHD2 相关疾病的遗传和表型谱：从早期神经发育障碍到成年期癫痫。
Am J Med Genet A. 2022 Feb;188(2):522-533. doi: 10.1002/ajmg.a.62548. Epub 2021 Oct 29.
3
Chromatin Remodeling Proteins in Epilepsy: Lessons From -Associated Epilepsy.癫痫中的染色质重塑蛋白：来自[相关癫痫类型]的经验教训
Front Mol Neurosci. 2018 Jun 15;11:208. doi: 10.3389/fnmol.2018.00208. eCollection 2018.
4
The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.首次报道在临床有症状的母亲和女儿中出现遗传性致病性CHD2变异的病例。
Am J Med Genet A. 2018 Jul;176(7):1667-1669. doi: 10.1002/ajmg.a.38835. Epub 2018 May 9.
5
A Novel Variant of the Gene Associated With Developmental Delay and Myoclonic Epilepsy.与发育迟缓及肌阵挛性癫痫相关基因的一种新型变体
Front Genet. 2022 Feb 11;13:761178. doi: 10.3389/fgene.2022.761178. eCollection 2022.
6
Novel Loss-of-Function Variants in Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients.在中国患者中， 致童年起病的癫痫性脑病的新型功能丧失变异。
Genes (Basel). 2022 May 19;13(5):908. doi: 10.3390/genes13050908.
7
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.拓展CHD2相关脑病的突变谱和临床表型
Neurol Genet. 2024 Jul 11;10(4):e200168. doi: 10.1212/NXG.0000000000200168. eCollection 2024 Aug.
8
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.CHD2 杂合性不足与发育迟缓、智力残疾、癫痫和神经行为问题有关。
J Neurodev Disord. 2014;6(1):9. doi: 10.1186/1866-1955-6-9. Epub 2014 Apr 22.
9
CHD2 is Required for Embryonic Neurogenesis in the Developing Cerebral Cortex.CHD2 对于胚胎大脑皮质神经发生是必需的。
Stem Cells. 2015 Jun;33(6):1794-806. doi: 10.1002/stem.2001.
10
CHD2 variants are a risk factor for photosensitivity in epilepsy.冠心病2型变体是癫痫中光敏性的一个风险因素。
Brain. 2015 May;138(Pt 5):1198-207. doi: 10.1093/brain/awv052. Epub 2015 Mar 17.

引用本文的文献

1
Identification of Eight Histone Methylation Modification Regulators Associated With Breast Cancer Prognosis.与乳腺癌预后相关的八种组蛋白甲基化修饰调节因子的鉴定
IET Syst Biol. 2025 Jan-Dec;19(1):e70012. doi: 10.1049/syb2.70012.

本文引用的文献

1
Clinical analysis of gene mutations in pediatric patients with epilepsy.小儿癫痫患者基因突变的临床分析
Pediatr Investig. 2022 Apr 26;6(2):93-99. doi: 10.1002/ped4.12321. eCollection 2022 Jun.
2
A Novel Variant of the Gene Associated With Developmental Delay and Myoclonic Epilepsy.与发育迟缓及肌阵挛性癫痫相关基因的一种新型变体
Front Genet. 2022 Feb 11;13:761178. doi: 10.3389/fgene.2022.761178. eCollection 2022.
3
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.扩展 CHD2 相关疾病的遗传和表型谱：从早期神经发育障碍到成年期癫痫。
Am J Med Genet A. 2022 Feb;188(2):522-533. doi: 10.1002/ajmg.a.62548. Epub 2021 Oct 29.
4
Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic.在医学神经精神遗传学诊所中对青少年和成年人进行下一代基因面板检测。
Neurogenetics. 2021 Oct;22(4):313-322. doi: 10.1007/s10048-021-00664-3. Epub 2021 Aug 7.
5
Chd2 Is Necessary for Neural Circuit Development and Long-Term Memory.Chd2 对于神经回路发育和长期记忆是必要的。
Neuron. 2018 Dec 5;100(5):1180-1193.e6. doi: 10.1016/j.neuron.2018.09.049. Epub 2018 Oct 18.
6
CHD2 variants are a risk factor for photosensitivity in epilepsy.冠心病2型变体是癫痫中光敏性的一个风险因素。
Brain. 2015 May;138(Pt 5):1198-207. doi: 10.1093/brain/awv052. Epub 2015 Mar 17.
7
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.CHD2型肌阵挛性脑病常与自我诱发的癫痫发作相关。
Neurology. 2015 Mar 3;84(9):951-8. doi: 10.1212/WNL.0000000000001305. Epub 2015 Feb 11.
8
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.CHD2 杂合性不足与发育迟缓、智力残疾、癫痫和神经行为问题有关。
J Neurodev Disord. 2014;6(1):9. doi: 10.1186/1866-1955-6-9. Epub 2014 Apr 22.
9
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.在癫痫性脑病中进行靶向重测序鉴定出 CHD2 和 SYNGAP1 的新生突变。
Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26.

The neurodevelopmental spectrum seen with variants.

作者信息

Willison Alice G, Thomas Rhys H

机构信息

Faculty of Medical Sciences Translational and Clinical Research Institute Newcastle University Newcastle UK.

Royal Victoria Infirmary Newcastle Upon Tyne NHS Foundation Trust Newcastle UK.

出版信息

Pediatr Investig. 2022 Apr 26;6(2):147-148. doi: 10.1002/ped4.12323. eCollection 2022 Jun.

DOI:10.1002/ped4.12323
PMID:35774518
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9218968/
Abstract
摘要