[伊比利亚-美洲神经儿科学会对婴儿自限性癫痫知识的贡献]。

IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL
Medicina-buenos Aires Pub Date : 2024-09-01
Roberto H Caraballo
{"title":"[伊比利亚-美洲神经儿科学会对婴儿自限性癫痫知识的贡献]。","authors":"Roberto H Caraballo","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Since the first presentation at the IV Iberoamerican Academy of Neuropediatrics Congress in 1995, our group has studied self-limited infantile epilepsy (SeLIE), both familial and non-familial, corroborating that they belong to the same entity due to their clinical and electroencephalographic characteristics and excellent prognosis. Associations were found with paroxysmal dyskinesias and migraine, as well as with hemiplegic migraine, episodic ataxia and intellectual disability in atypical cases. Mutations in PRRT2 are the main cause of SeLIE, however, other genes, such as SCN2A, KCNQ2-3 and SCN8A, have been recognized. Drugs for focal seizures that act on sodium channels are indicated. In emergencies, during cluster seizures, the use of benzodiazepines is important. In this publication, we review our contribution in SeLIE from our first report to the present and review the existing literature on the subject.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"3-8"},"PeriodicalIF":0.6000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Contribution of the Ibero-American Academy of Neuropediatrics to the knowledge of self-limited epilepsy in infants].\",\"authors\":\"Roberto H Caraballo\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Since the first presentation at the IV Iberoamerican Academy of Neuropediatrics Congress in 1995, our group has studied self-limited infantile epilepsy (SeLIE), both familial and non-familial, corroborating that they belong to the same entity due to their clinical and electroencephalographic characteristics and excellent prognosis. Associations were found with paroxysmal dyskinesias and migraine, as well as with hemiplegic migraine, episodic ataxia and intellectual disability in atypical cases. Mutations in PRRT2 are the main cause of SeLIE, however, other genes, such as SCN2A, KCNQ2-3 and SCN8A, have been recognized. Drugs for focal seizures that act on sodium channels are indicated. In emergencies, during cluster seizures, the use of benzodiazepines is important. In this publication, we review our contribution in SeLIE from our first report to the present and review the existing literature on the subject.</p>\",\"PeriodicalId\":18419,\"journal\":{\"name\":\"Medicina-buenos Aires\",\"volume\":\"84 Suppl 3 \",\"pages\":\"3-8\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2024-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medicina-buenos Aires\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicina-buenos Aires","FirstCategoryId":"3","ListUrlMain":"","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0

摘要

自 1995 年在第四届伊比利亚美洲神经儿科学会大会上首次介绍自限性婴儿癫痫(SeLIE)以来,我们的研究小组对家族性和非家族性自限性婴儿癫痫进行了研究,证实由于其临床和脑电图特征以及良好的预后,它们属于同一实体。研究发现,该病与阵发性运动障碍和偏头痛有关,在非典型病例中还与偏瘫性偏头痛、发作性共济失调和智力障碍有关。PRRT2 基因突变是导致 SeLIE 的主要原因,但也发现了其他基因,如 SCN2A、KCNQ2-3 和 SCN8A。治疗局灶性癫痫发作的药物可作用于钠通道。在紧急情况下,群集性癫痫发作时使用苯二氮卓类药物非常重要。在本刊物中,我们回顾了从第一次报告至今我们在 SeLIE 方面所做的贡献,并综述了有关该主题的现有文献。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Contribution of the Ibero-American Academy of Neuropediatrics to the knowledge of self-limited epilepsy in infants].

Since the first presentation at the IV Iberoamerican Academy of Neuropediatrics Congress in 1995, our group has studied self-limited infantile epilepsy (SeLIE), both familial and non-familial, corroborating that they belong to the same entity due to their clinical and electroencephalographic characteristics and excellent prognosis. Associations were found with paroxysmal dyskinesias and migraine, as well as with hemiplegic migraine, episodic ataxia and intellectual disability in atypical cases. Mutations in PRRT2 are the main cause of SeLIE, however, other genes, such as SCN2A, KCNQ2-3 and SCN8A, have been recognized. Drugs for focal seizures that act on sodium channels are indicated. In emergencies, during cluster seizures, the use of benzodiazepines is important. In this publication, we review our contribution in SeLIE from our first report to the present and review the existing literature on the subject.

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
Medicina-buenos Aires
Medicina-buenos Aires 医学-医学:内科
CiteScore
1.30
自引率
12.50%
发文量
0
审稿时长
6-12 weeks
期刊介绍: Information not localized
×
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