男性<i>PCDH19</i>患者临床-脑电图变化轨迹集群癫痫

D. V. Dmitrenko, A. А. Sharkov, E. А. Domoratskaya, A. А. Usoltseva, I. V. Volkov, D. V. Pyankov
{"title":"男性&lt;i&gt;PCDH19&lt;/i&gt患者临床-脑电图变化轨迹集群癫痫","authors":"D. V. Dmitrenko, A. А. Sharkov, E. А. Domoratskaya, A. А. Usoltseva, I. V. Volkov, D. V. Pyankov","doi":"10.17749/2077-8333/epi.par.con.2023.156","DOIUrl":null,"url":null,"abstract":"Background. The association between the protocadherin-19 ( PCDH19 ) gene and epilepsy suggests that the X-linked inherited form of its pathogenic variant affects only women. Recent data has described males with somatic mosaicism, whose clinical picture is similar to the common manifestations in females. Objective: to report on three new cases of PCDH19 clustering epilepsy in male patients. Material and methods. Clinical data were collected from different centers through personal communication between authors, which means that the structured cohort was not tested. For all patients a next generation sequencing-based custom epilepsy gene panel and whole-exome sequencing by NextSeq 500 (Illumina Inc., USA) were performed. Results. All patients had a previously described mosaic variants in PCDH19 gene (NM_001184880.1). According to the electroencefalographic data, all patients had a diffuse slowdown of the background rhythm, interictal regional/multiregional epileptiform activity and ictal focal pattern in the frontotemporal regions. Brain magnetic resonance imaging at the age of 3 years showed delayed myelination without focal abnormalities in 2 patients. Conclusion. Early recognition of the above features should improve early diagnosis and long-term management of patients with epilepsy and PCDH19 mutations.","PeriodicalId":11715,"journal":{"name":"Epilepsia and paroxyzmal conditions","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Variable clinic-EEG trajectories in male patients with &lt;i&gt;PCDH19&lt;/i&gt; clustering epilepsy\",\"authors\":\"D. V. Dmitrenko, A. А. Sharkov, E. А. Domoratskaya, A. А. Usoltseva, I. V. Volkov, D. V. Pyankov\",\"doi\":\"10.17749/2077-8333/epi.par.con.2023.156\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Background. The association between the protocadherin-19 ( PCDH19 ) gene and epilepsy suggests that the X-linked inherited form of its pathogenic variant affects only women. Recent data has described males with somatic mosaicism, whose clinical picture is similar to the common manifestations in females. Objective: to report on three new cases of PCDH19 clustering epilepsy in male patients. Material and methods. Clinical data were collected from different centers through personal communication between authors, which means that the structured cohort was not tested. For all patients a next generation sequencing-based custom epilepsy gene panel and whole-exome sequencing by NextSeq 500 (Illumina Inc., USA) were performed. Results. All patients had a previously described mosaic variants in PCDH19 gene (NM_001184880.1). According to the electroencefalographic data, all patients had a diffuse slowdown of the background rhythm, interictal regional/multiregional epileptiform activity and ictal focal pattern in the frontotemporal regions. Brain magnetic resonance imaging at the age of 3 years showed delayed myelination without focal abnormalities in 2 patients. Conclusion. Early recognition of the above features should improve early diagnosis and long-term management of patients with epilepsy and PCDH19 mutations.\",\"PeriodicalId\":11715,\"journal\":{\"name\":\"Epilepsia and paroxyzmal conditions\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-09-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Epilepsia and paroxyzmal conditions\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.17749/2077-8333/epi.par.con.2023.156\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Epilepsia and paroxyzmal conditions","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17749/2077-8333/epi.par.con.2023.156","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

背景。原钙粘蛋白-19 (PCDH19)基因与癫痫之间的关联表明,其致病变异的x连锁遗传形式仅影响女性。最近的资料描述了男性与体细胞嵌合体,其临床表现与女性的常见表现相似。目的:报告3例新发男性PCDH19聚集性癫痫病例。材料和方法。临床数据是通过作者之间的个人交流从不同的中心收集的,这意味着没有对结构化队列进行测试。对所有患者进行下一代基于测序的定制癫痫基因面板和NextSeq 500 (Illumina Inc., USA)的全外显子组测序。结果。所有患者都有先前描述的PCDH19基因嵌合变异(NM_001184880.1)。脑电图数据显示,所有患者均表现为背景节律、间歇期区域/多区域癫痫样活动和额颞叶间歇期局灶模式的弥漫性减慢。2例患者3岁时的脑磁共振成像显示迟发性髓鞘形成,无局灶性异常。结论。对上述特征的早期认识有助于对癫痫和PCDH19突变患者的早期诊断和长期管理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Variable clinic-EEG trajectories in male patients with <i>PCDH19</i> clustering epilepsy
Background. The association between the protocadherin-19 ( PCDH19 ) gene and epilepsy suggests that the X-linked inherited form of its pathogenic variant affects only women. Recent data has described males with somatic mosaicism, whose clinical picture is similar to the common manifestations in females. Objective: to report on three new cases of PCDH19 clustering epilepsy in male patients. Material and methods. Clinical data were collected from different centers through personal communication between authors, which means that the structured cohort was not tested. For all patients a next generation sequencing-based custom epilepsy gene panel and whole-exome sequencing by NextSeq 500 (Illumina Inc., USA) were performed. Results. All patients had a previously described mosaic variants in PCDH19 gene (NM_001184880.1). According to the electroencefalographic data, all patients had a diffuse slowdown of the background rhythm, interictal regional/multiregional epileptiform activity and ictal focal pattern in the frontotemporal regions. Brain magnetic resonance imaging at the age of 3 years showed delayed myelination without focal abnormalities in 2 patients. Conclusion. Early recognition of the above features should improve early diagnosis and long-term management of patients with epilepsy and PCDH19 mutations.
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
自引率
0.00%
发文量
0
×
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:481959085
Book学术官方微信