与致病性CREBBP变异相关的肌阵挛性缺失癫痫:鲁宾斯坦-泰比综合征1例报告

IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY
Kohei Matsubara , Kohei Yamakawa , Risako Ishioka , Masataka Fukuoka , Nukui Megumi , Takeshi Inoue , Ichiro Kuki , Yuri Uchiyama , Takeshi Mizuguchi , Naomichi Matsumoto , Shin Okazaki
{"title":"与致病性CREBBP变异相关的肌阵挛性缺失癫痫:鲁宾斯坦-泰比综合征1例报告","authors":"Kohei Matsubara , Kohei Yamakawa , Risako Ishioka , Masataka Fukuoka , Nukui Megumi , Takeshi Inoue , Ichiro Kuki , Yuri Uchiyama , Takeshi Mizuguchi , Naomichi Matsumoto , Shin Okazaki","doi":"10.1016/j.seizure.2025.05.012","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 1-4"},"PeriodicalIF":2.7000,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Epilepsy with myoclonic absences associated with a pathogenic CREBBP variant: A case report of Rubinstein–Taybi syndrome\",\"authors\":\"Kohei Matsubara , Kohei Yamakawa , Risako Ishioka , Masataka Fukuoka , Nukui Megumi , Takeshi Inoue , Ichiro Kuki , Yuri Uchiyama , Takeshi Mizuguchi , Naomichi Matsumoto , Shin Okazaki\",\"doi\":\"10.1016/j.seizure.2025.05.012\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":49552,\"journal\":{\"name\":\"Seizure-European Journal of Epilepsy\",\"volume\":\"131 \",\"pages\":\"Pages 1-4\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2025-05-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Seizure-European Journal of Epilepsy\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S105913112500127X\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Seizure-European Journal of Epilepsy","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S105913112500127X","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0

摘要

本文章由计算机程序翻译,如有差异,请以英文原文为准。
Epilepsy with myoclonic absences associated with a pathogenic CREBBP variant: A case report of Rubinstein–Taybi syndrome
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Seizure-European Journal of Epilepsy
Seizure-European Journal of Epilepsy 医学-临床神经学
CiteScore
5.60
自引率
6.70%
发文量
231
审稿时长
34 days
期刊介绍: Seizure - European Journal of Epilepsy is an international journal owned by Epilepsy Action (the largest member led epilepsy organisation in the UK). It provides a forum for papers on all topics related to epilepsy and seizure disorders.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信