A Case Series of Novel Monogenic Abnormalities Associated With Developmental Epileptic Encephalopathy With Spike-and-Wave Activation in Sleep

IF 3.2 3区 医学 Q2 CLINICAL NEUROLOGY Pediatric neurology Pub Date : 2024-08-12 DOI:10.1016/j.pediatrneurol.2024.08.003
Andrew Silverman MD, MHS , Ann Hyslop MD , William Gallentine DO , Chethan Rao DO, MS
{"title":"A Case Series of Novel Monogenic Abnormalities Associated With Developmental Epileptic Encephalopathy With Spike-and-Wave Activation in Sleep","authors":"Andrew Silverman MD, MHS ,&nbsp;Ann Hyslop MD ,&nbsp;William Gallentine DO ,&nbsp;Chethan Rao DO, MS","doi":"10.1016/j.pediatrneurol.2024.08.003","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><p>Developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) is a rare neurodevelopmental spectrum of disorders marked by regression associated with spike-and-wave activation in sleep.</p></div><div><h3>Methods</h3><p>As roughly 10% have a related genetic underpinning, we sought to describe narrative clinical histories of four patients at a single academic medical center with monogenic variants associated with DEE-SWAS. In sharing this case series, we aim to build on recent work investigating genetic DEE-SWAS.</p></div><div><h3>Results</h3><p>Findings from this case series not only aid in accurate diagnosis and prognosis for our patients but also may provide potential targets for future therapeutic interventions.</p></div><div><h3>Conclusions</h3><p>This natural history case series also highlights the difficulty in differentiating genetic phenotype from the effects of DEE-SWAS.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 18-23"},"PeriodicalIF":3.2000,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric neurology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S088789942400287X","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

Abstract

Background

Developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) is a rare neurodevelopmental spectrum of disorders marked by regression associated with spike-and-wave activation in sleep.

Methods

As roughly 10% have a related genetic underpinning, we sought to describe narrative clinical histories of four patients at a single academic medical center with monogenic variants associated with DEE-SWAS. In sharing this case series, we aim to build on recent work investigating genetic DEE-SWAS.

Results

Findings from this case series not only aid in accurate diagnosis and prognosis for our patients but also may provide potential targets for future therapeutic interventions.

Conclusions

This natural history case series also highlights the difficulty in differentiating genetic phenotype from the effects of DEE-SWAS.

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
与发育性癫痫脑病相关的新型单基因异常病例系列,伴有睡眠中的棘波和波激活
背景伴有睡眠中尖波激活的发育性和癫痫性脑病(DEE-SWAS)是一种罕见的神经发育性疾病,其特征是与睡眠中尖波激活相关的退行性病变。方法由于大约 10% 的患者有相关的遗传基础,我们试图描述一个学术医学中心的四名与 DEE-SWAS 相关的单基因变异患者的临床病史。结果本病例系列的发现不仅有助于对患者进行准确诊断和预后判断,还可能为未来的治疗干预提供潜在目标。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
Pediatric neurology
Pediatric neurology 医学-临床神经学
CiteScore
4.80
自引率
2.60%
发文量
176
审稿时长
78 days
期刊介绍: Pediatric Neurology publishes timely peer-reviewed clinical and research articles covering all aspects of the developing nervous system. Pediatric Neurology features up-to-the-minute publication of the latest advances in the diagnosis, management, and treatment of pediatric neurologic disorders. The journal''s editor, E. Steve Roach, in conjunction with the team of Associate Editors, heads an internationally recognized editorial board, ensuring the most authoritative and extensive coverage of the field. Among the topics covered are: epilepsy, mitochondrial diseases, congenital malformations, chromosomopathies, peripheral neuropathies, perinatal and childhood stroke, cerebral palsy, as well as other diseases affecting the developing nervous system.
期刊最新文献
The Value of Diffusion Tensor Imaging in Differential Diagnosis of Embryonal Tumors Occurring in the Brainstem and Brainstem Gliomas in Pediatric Patients. Potential Pitfalls in Applying the Suzuki Classification in Moyamoya Disease. Table of Contents Editorial Board and Masthead PIK3CA-Related Overgrowth Spectrum: Exploring Brain Growth From Fetal to Infant.
×
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
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 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 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1