• 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

三例KCNT1突变：婴儿期恶性游走性部分性癫痫伴大量体循环至肺循环侧支动脉

Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries.

作者信息

Kawasaki Yuki, Kuki Ichiro, Ehara Eiji, Murakami Yosuke, Okazaki Shin, Kawawaki Hisashi, Hara Munetsugu, Watanabe Yoriko, Kishimoto Shintaro, Suda Kenji, Saitsu Hirotomo, Matsumoto Naomichi

机构信息

Department of Pediatric Cardiology, Osaka City General Hospital, Osaka, Japan.

Department of Pediatric Neurology, Osaka City General Hospital, Osaka, Japan.

出版信息

J Pediatr. 2017 Dec;191:270-274. doi: 10.1016/j.jpeds.2017.08.057. Epub 2017 Oct 5.

DOI:10.1016/j.jpeds.2017.08.057
PMID:28987752
Abstract

KCNT1 mutations are gain-of-function mutations in potassium channels resulting in severe infantile epilepsy. Herein we describe 3 infants with malignant migrating partial seizures with KCNT1 mutations accompanied by massive systemic to pulmonary collateral arteries with life-threatening hemoptysis and heart failure.

摘要

KCNT1突变是钾通道中的功能获得性突变，可导致严重的婴儿癫痫。在此，我们描述了3例患有伴有KCNT1突变的恶性游走性部分性癫痫发作的婴儿，他们伴有大量体循环至肺的侧支动脉，出现危及生命的咯血和心力衰竭。

相似文献

1
Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries.三例KCNT1突变：婴儿期恶性游走性部分性癫痫伴大量体循环至肺循环侧支动脉
J Pediatr. 2017 Dec;191:270-274. doi: 10.1016/j.jpeds.2017.08.057. Epub 2017 Oct 5.
2
A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.两个散发病例中存在 KCNT1 基因突变，表现为婴儿期恶性游走性部分性癫痫发作。
Gene. 2013 Dec 1;531(2):467-71. doi: 10.1016/j.gene.2013.08.096. Epub 2013 Sep 10.
3
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.KCNT1 癫痫伴游走性局灶性发作具有不良预后、高死亡率和 SUDEP 的时间序列。
Brain. 2019 Oct 1;142(10):2996-3008. doi: 10.1093/brain/awz240.
4
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.癫痫性疾病中的KCNT1突变：表型谱及功能影响
J Med Genet. 2016 Apr;53(4):217-25. doi: 10.1136/jmedgenet-2015-103508. Epub 2016 Jan 6.
5
Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures.婴儿移行性局灶性癫痫伴 KCNT1 发作的定量分析和 EEG 标志物。
Epilepsia. 2019 Jan;60(1):20-32. doi: 10.1111/epi.14605. Epub 2018 Dec 7.
6
Mutations in KCNT1 cause a spectrum of focal epilepsies.KCNT1基因的突变会引发一系列局灶性癫痫。
Epilepsia. 2015 Sep;56(9):e114-20. doi: 10.1111/epi.13071. Epub 2015 Jun 30.
7
Clinical and molecular characterization of -related severe early-onset epilepsy.- 相关严重早发性癫痫的临床和分子特征。
Neurology. 2018 Jan 2;90(1):e55-e66. doi: 10.1212/WNL.0000000000004762. Epub 2017 Dec 1.
8
Targeted treatment of migrating partial seizures of infancy with quinidine.以奎尼丁靶向治疗婴儿部分性发作性癫痫。
Ann Neurol. 2014 Sep;76(3):457-61. doi: 10.1002/ana.24229. Epub 2014 Jul 26.
9
Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy.婴儿期恶性游走性局灶性癫痫患儿中两个新发KCNT1突变的特征分析
Mol Cell Neurosci. 2016 Apr;72:54-63. doi: 10.1016/j.mcn.2016.01.004. Epub 2016 Jan 16.
10
Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation.携带KCNT1突变的常染色体显性遗传性睡眠相关运动过多性癫痫中的游走性局灶性发作
Seizure. 2019 Apr;67:57-60. doi: 10.1016/j.seizure.2019.02.019. Epub 2019 Mar 7.

引用本文的文献

1
Pulmonary vascular malformations in genetic epileptic encephalopathy: A rare, fatal case report.遗传性癫痫性脑病中的肺血管畸形：一例罕见的致命病例报告。
Respir Med Case Rep. 2024 Dec 21;53:102155. doi: 10.1016/j.rmcr.2024.102155. eCollection 2025.
2
Electrophysiological characterization of human KCNT1 channel modulators and the therapeutic potential of hydroquinine and tipepidine in KCNT1 mutation-associated epilepsy mouse model.人类KCNT1通道调节剂的电生理特性以及对苯二酚和替哌啶在KCNT1突变相关癫痫小鼠模型中的治疗潜力
Acta Pharmacol Sin. 2025 May;46(5):1190-1204. doi: 10.1038/s41401-024-01457-8. Epub 2025 Jan 27.
3
Efficacy of anti-seizure medications and alternative therapies (ketogenic diet, CBD, and quinidine) in KCNT1-related epilepsy: A systematic review.
KCNT1 相关性癫痫的抗癫痫药物和替代疗法（生酮饮食、大麻二酚和奎尼丁）的疗效：系统评价。
Epilepsia Open. 2024 Aug;9(4):1176-1191. doi: 10.1002/epi4.12975. Epub 2024 Jun 22.
4
Antisense oligonucleotide therapy for KCNT1 encephalopathy.针对 KCNT1 脑病的反义寡核苷酸疗法。
JCI Insight. 2022 Dec 8;7(23):e146090. doi: 10.1172/jci.insight.146090.
5
The Functional Properties, Physiological Roles, Channelopathy and Pharmacological Characteristics of the Slack (KCNT1) Channel.松弛（KCNT1）通道的功能特性、生理作用、通道病和药理学特征。
Adv Exp Med Biol. 2021;1349:387-400. doi: 10.1007/978-981-16-4254-8_18.
6
Intellectual Disability and Potassium Channelopathies: A Systematic Review.智力残疾与钾通道病：一项系统综述
Front Genet. 2020 Jun 23;11:614. doi: 10.3389/fgene.2020.00614. eCollection 2020.
7
Slo2 potassium channel function depends on RNA editing-regulated expression of a SCYL1 protein.Slo2钾通道功能依赖于SCYL1蛋白的RNA编辑调控表达。
Elife. 2020 Apr 21;9:e53986. doi: 10.7554/eLife.53986.
8
Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.伴有游走性局灶性发作的癫痫：KCNT1突变热点与表型变异性
Neurol Genet. 2019 Oct 25;5(6):e363. doi: 10.1212/NXG.0000000000000363. eCollection 2019 Dec.
9
Cardiac metabolic effects of K1.2 channel deletion and evidence for its mitochondrial localization.K1.2通道缺失的心脏代谢效应及其线粒体定位的证据。
FASEB J. 2018 Jun 4;32(11):fj201800139R. doi: 10.1096/fj.201800139R.
10
Clinical and molecular characterization of -related severe early-onset epilepsy.- 相关严重早发性癫痫的临床和分子特征。
Neurology. 2018 Jan 2;90(1):e55-e66. doi: 10.1212/WNL.0000000000004762. Epub 2017 Dec 1.