良性成人家族性肌阵挛癫痫1型的临床诊断标准与基因检测高度一致

IF 0.4 Q4 CLINICAL NEUROLOGY Neurology and Clinical Neuroscience Pub Date : 2023-01-21 DOI:10.1111/ncn3.12696
Haruka Ishibashi, Katsuya Kobayashi, Maya Tojima, S. Neshige, T. Hitomi, H. Ishiura, S. Tsuji, H. Maruyama, Ryosuke Takahashi, A. Ikeda
{"title":"良性成人家族性肌阵挛癫痫1型的临床诊断标准与基因检测高度一致","authors":"Haruka Ishibashi, Katsuya Kobayashi, Maya Tojima, S. Neshige, T. Hitomi, H. Ishiura, S. Tsuji, H. Maruyama, Ryosuke Takahashi, A. Ikeda","doi":"10.1111/ncn3.12696","DOIUrl":null,"url":null,"abstract":"The clinical diagnostic criteria for benign adult familial myoclonus epilepsy (BAFME) originally included (1) cortical tremor and infrequent generalized seizures, (2) autosomal dominant inheritance, (3) lack of cognitive decline and other neurological symptoms, (4) electrophysiological findings of cortical reflex myoclonus, and (5) lack of clear clinical progression (BAFME criteria‐1). It was revised such that (1) included partial seizures, and (3) and (5) may develop among middle‐aged patients (Revised criteria‐2). The Japanese Ministry of Health, Labor and Welfare proposed their criteria, which included the EEG and MRI findings (MHLW criteria‐3). Recently, high‐frequency oscillations, superimposed on the giant somatosensory evoked potential P25 component (P25‐HFOs), have been found useful as a biomarker for BAFME diagnosis.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":"11 1","pages":"140 - 145"},"PeriodicalIF":0.4000,"publicationDate":"2023-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinical diagnostic criteria of benign adult familial myoclonus epilepsy type 1 are highly concordant with genetic testing\",\"authors\":\"Haruka Ishibashi, Katsuya Kobayashi, Maya Tojima, S. Neshige, T. Hitomi, H. Ishiura, S. Tsuji, H. Maruyama, Ryosuke Takahashi, A. Ikeda\",\"doi\":\"10.1111/ncn3.12696\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The clinical diagnostic criteria for benign adult familial myoclonus epilepsy (BAFME) originally included (1) cortical tremor and infrequent generalized seizures, (2) autosomal dominant inheritance, (3) lack of cognitive decline and other neurological symptoms, (4) electrophysiological findings of cortical reflex myoclonus, and (5) lack of clear clinical progression (BAFME criteria‐1). It was revised such that (1) included partial seizures, and (3) and (5) may develop among middle‐aged patients (Revised criteria‐2). The Japanese Ministry of Health, Labor and Welfare proposed their criteria, which included the EEG and MRI findings (MHLW criteria‐3). Recently, high‐frequency oscillations, superimposed on the giant somatosensory evoked potential P25 component (P25‐HFOs), have been found useful as a biomarker for BAFME diagnosis.\",\"PeriodicalId\":19154,\"journal\":{\"name\":\"Neurology and Clinical Neuroscience\",\"volume\":\"11 1\",\"pages\":\"140 - 145\"},\"PeriodicalIF\":0.4000,\"publicationDate\":\"2023-01-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurology and Clinical Neuroscience\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1111/ncn3.12696\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurology and Clinical Neuroscience","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1111/ncn3.12696","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0

摘要

良性成人家族性肌阵挛癫痫(BAFME)的临床诊断标准最初包括(1)皮质震颤和罕见的全身性癫痫发作,(2)常染色体显性遗传,(3)缺乏认知能力下降和其他神经症状,(4)皮质反射性肌阵痛的电生理学表现,以及(5)缺乏明确的临床进展(BAFME标准-1)。对其进行了修订,使(1)包括部分癫痫发作,(3)和(5)可能在中年患者中发展(修订标准-2)。日本厚生劳动省提出了他们的标准,其中包括脑电图和MRI检查结果(MHLW标准-3)。最近,叠加在巨大体感诱发电位P25成分(P25‐HFO)上的高频振荡被发现可作为BAFME诊断的生物标志物。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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
Clinical diagnostic criteria of benign adult familial myoclonus epilepsy type 1 are highly concordant with genetic testing
The clinical diagnostic criteria for benign adult familial myoclonus epilepsy (BAFME) originally included (1) cortical tremor and infrequent generalized seizures, (2) autosomal dominant inheritance, (3) lack of cognitive decline and other neurological symptoms, (4) electrophysiological findings of cortical reflex myoclonus, and (5) lack of clear clinical progression (BAFME criteria‐1). It was revised such that (1) included partial seizures, and (3) and (5) may develop among middle‐aged patients (Revised criteria‐2). The Japanese Ministry of Health, Labor and Welfare proposed their criteria, which included the EEG and MRI findings (MHLW criteria‐3). Recently, high‐frequency oscillations, superimposed on the giant somatosensory evoked potential P25 component (P25‐HFOs), have been found useful as a biomarker for BAFME diagnosis.
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
CiteScore
0.80
自引率
0.00%
发文量
76
期刊最新文献
Systemic association of myelin oligodendrocyte glycoprotein antibody disease: A systematic review of literature Reduction rate of anti‐acetylcholine receptor antibody titer levels is an early prognostic indicator for myasthenia gravis Focal 18F‐fluorodeoxyglucose uptake in spinal dural arteriovenous fistula: A report of two cases A rare presentation of unilateral posterior reversible encephalopathy syndrome following a trivial head trauma Efficacy and safety of modified Atkins diet therapy for drug‐resistant epilepsy in children and adults: A systematic review and meta‐analysis
×
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