• 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

Adult Gene Therapy for Epilepsy in a Model of Angelman Syndrome: Hope or Hype?

作者信息

Huguenard John R

机构信息

Neurology and Neurological Sciences, Stanford University School of Medicine.

出版信息

Epilepsy Curr. 2023 Aug 7;23(5):312-314. doi: 10.1177/15357597231191885. eCollection 2023 Sep-Oct.

DOI:10.1177/15357597231191885
PMID:37901779
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10601042/
Abstract
摘要

相似文献

1
Adult Gene Therapy for Epilepsy in a Model of Angelman Syndrome: Hope or Hype?针对天使综合征模型中癫痫的成人基因治疗：希望还是炒作？
Epilepsy Curr. 2023 Aug 7;23(5):312-314. doi: 10.1177/15357597231191885. eCollection 2023 Sep-Oct.
2
Outcomes After Tonsillectomy in Children With Angelman Syndrome.患有天使综合征的儿童扁桃体切除术后的结果
J Otolaryngol Head Neck Surg. 2025 Jan-Dec;54:19160216251364759. doi: 10.1177/19160216251364759. Epub 2025 Aug 8.
3
Association Between Challenging Behaviour and Sleep Problems in Adults Enrolled in the Global Angelman Syndrome Registry.全球天使综合征登记处登记的成年人中挑战性行为与睡眠问题之间的关联。
J Autism Dev Disord. 2024 May 20. doi: 10.1007/s10803-024-06367-6.
4
A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition.天使综合征的临床前猪模型反映了人类疾病的早期发育轨迹。
Proc Natl Acad Sci U S A. 2025 Jul 29;122(30):e2505152122. doi: 10.1073/pnas.2505152122. Epub 2025 Jul 21.
5
Is the antiparasitic drug ivermectin a suitable candidate for the treatment of epilepsy?抗寄生虫药物伊维菌素是否适合用于治疗癫痫？
Epilepsia. 2023 Mar;64(3):553-566. doi: 10.1111/epi.17511. Epub 2023 Jan 26.
6
Angelman Syndrome安吉尔曼综合征
7
Early-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and Multisystem Manifestations.一名六岁儿童的早发性15q11.2微缺失综合征：难治性癫痫、自闭症及多系统表现的病例报告
Cureus. 2025 Aug 19;17(8):e90530. doi: 10.7759/cureus.90530. eCollection 2025 Aug.
8
UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects.UBE3A 恢复可在印记缺陷的天使综合征小鼠模型中恢复行为和蛋白质组。
Mol Autism. 2025 Aug 28;16(1):45. doi: 10.1186/s13229-025-00675-z.
9
Status Epilepticus in Chromosomal Disorders Associated with Epilepsy: A Systematic Review.染色体疾病相关性癫痫持续状态：系统评价。
Genes (Basel). 2023 Jan 23;14(2):299. doi: 10.3390/genes14020299.
10
Age-Related Trajectories of Autistic Traits in Children With Angelman Syndrome.患有天使综合征儿童自闭症特征的年龄相关轨迹
Autism Res. 2025 Apr;18(4):870-880. doi: 10.1002/aur.70017. Epub 2025 Mar 21.

本文引用的文献

1
Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome.反义寡核苷酸疗法可挽救 Angelman 综合征幼年和成年小鼠模型中紊乱的脑节律和睡眠。
Elife. 2023 Jan 3;12:e81892. doi: 10.7554/eLife.81892.
2
Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes.Angelman 综合征不同基因型的电生理表型存在差异。
Biol Psychiatry. 2019 May 1;85(9):752-759. doi: 10.1016/j.biopsych.2019.01.008. Epub 2019 Jan 19.
3
Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.Angelman 综合征小鼠模型中存在 Ube3a 到 Gabrb3 的大片段母源性缺失，表现出改变的超声发声和学习记忆损伤。
PLoS One. 2010 Aug 20;5(8):e12278. doi: 10.1371/journal.pone.0012278.
4
Epilepsy in patients with Angelman syndrome.伴 Angelman 综合征的癫痫。
Ital J Pediatr. 2010 Apr 16;36:31. doi: 10.1186/1824-7288-36-31.
5
Angelman syndrome: a review of the clinical and genetic aspects.安吉尔曼综合征：临床与遗传学方面综述
J Med Genet. 2003 Feb;40(2):87-95. doi: 10.1136/jmg.40.2.87.
6
Distinct phenotypes distinguish the molecular classes of Angelman syndrome.不同的表型区分了天使综合征的分子类型。
J Med Genet. 2001 Dec;38(12):834-45. doi: 10.1136/jmg.38.12.834.
7
GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man.γ-氨基丁酸与癫痫发生：比较Gabrb3基因缺陷小鼠与人类安吉尔曼综合征
Epilepsy Res. 1999 Sep;36(2-3):123-32. doi: 10.1016/s0920-1211(99)00046-7.
8
Parental imprinting and Angelman syndrome.亲本印记与天使综合征
Adv Neurol. 1999;79:421-9.
9
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients.20例缺失型和20例非缺失型天使综合征患者的表型-基因型相关性研究
Eur J Hum Genet. 1999 Feb-Mar;7(2):131-9. doi: 10.1038/sj.ejhg.5200258.
10
Angelman syndrome: correlations between epilepsy phenotypes and genotypes.安吉尔曼综合征：癫痫表型与基因型之间的相关性
Ann Neurol. 1998 Apr;43(4):485-93. doi: 10.1002/ana.410430412.