[新生儿癫痫综合征]。

IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Medicina-buenos Aires Pub Date : 2024-09-01
Graciela Del Pilar Guerrero Ruiz
{"title":"[新生儿癫痫综合征]。","authors":"Graciela Del Pilar Guerrero Ruiz","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Neonatal epileptic syndromes are part of the genetic and metabolic epilepsies in this age group. Although they are not the most frequent cause of neonatal seizures, their early recognition allows for better diagnostic and therapeutic approaches. These syndromes can be classified into self-limited neonatal syndromes and early infantile epileptic and developmental encephalopathies (EIDEE). While they may share semiology in some types of seizures, such as sequential, and even share alterations in common genes in their etiology, their evolution is very different. In self-limited neonatal syndromes, seizures typically resolve within the first months of life with normal psychomotor development, giving rise to the term self-limited. However, the term benign should not be used as some may present recurrence of seizures, movement disorders, or learning disorders. In the case of EIDEE, seizures are usually refractory to treatment, affecting brain functions and neurodevelopment. In this review, our aim was to describe the electroclinical phenotype of neonatal epileptic syndromes, the most frequently involved genes and their clinical spectrum, their diagnostic approach, as well as the recommended treatments.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"84 Suppl 3 ","pages":"75-80"},"PeriodicalIF":0.6000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Neonatal epileptics syndromes].\",\"authors\":\"Graciela Del Pilar Guerrero Ruiz\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Neonatal epileptic syndromes are part of the genetic and metabolic epilepsies in this age group. Although they are not the most frequent cause of neonatal seizures, their early recognition allows for better diagnostic and therapeutic approaches. These syndromes can be classified into self-limited neonatal syndromes and early infantile epileptic and developmental encephalopathies (EIDEE). While they may share semiology in some types of seizures, such as sequential, and even share alterations in common genes in their etiology, their evolution is very different. In self-limited neonatal syndromes, seizures typically resolve within the first months of life with normal psychomotor development, giving rise to the term self-limited. However, the term benign should not be used as some may present recurrence of seizures, movement disorders, or learning disorders. In the case of EIDEE, seizures are usually refractory to treatment, affecting brain functions and neurodevelopment. In this review, our aim was to describe the electroclinical phenotype of neonatal epileptic syndromes, the most frequently involved genes and their clinical spectrum, their diagnostic approach, as well as the recommended treatments.</p>\",\"PeriodicalId\":18419,\"journal\":{\"name\":\"Medicina-buenos Aires\",\"volume\":\"84 Suppl 3 \",\"pages\":\"75-80\"},\"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

新生儿癫痫综合征是该年龄组遗传性和代谢性癫痫的一部分。虽然它们并不是新生儿癫痫发作的最常见原因,但及早识别它们可以获得更好的诊断和治疗方法。这些综合征可分为自限性新生儿综合征和早期婴儿癫痫和发育性脑病(EIDEE)。虽然它们在某些类型的癫痫发作(如连续性发作)上可能具有相同的半身像,甚至在病因上具有共同的基因改变,但它们的演变过程却大相径庭。在自限性新生儿综合征中,发作通常在出生后的头几个月内缓解,精神运动发育正常,因此被称为自限性。然而,由于有些患者可能会出现癫痫复发、运动障碍或学习障碍,因此不应使用良性这一术语。就 EIDEE 而言,癫痫发作通常是难治性的,会影响大脑功能和神经发育。在这篇综述中,我们旨在描述新生儿癫痫综合征的电临床表型、最常涉及的基因及其临床表现、诊断方法以及推荐的治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
[Neonatal epileptics syndromes].

Neonatal epileptic syndromes are part of the genetic and metabolic epilepsies in this age group. Although they are not the most frequent cause of neonatal seizures, their early recognition allows for better diagnostic and therapeutic approaches. These syndromes can be classified into self-limited neonatal syndromes and early infantile epileptic and developmental encephalopathies (EIDEE). While they may share semiology in some types of seizures, such as sequential, and even share alterations in common genes in their etiology, their evolution is very different. In self-limited neonatal syndromes, seizures typically resolve within the first months of life with normal psychomotor development, giving rise to the term self-limited. However, the term benign should not be used as some may present recurrence of seizures, movement disorders, or learning disorders. In the case of EIDEE, seizures are usually refractory to treatment, affecting brain functions and neurodevelopment. In this review, our aim was to describe the electroclinical phenotype of neonatal epileptic syndromes, the most frequently involved genes and their clinical spectrum, their diagnostic approach, as well as the recommended treatments.

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
期刊最新文献
[Angelman syndrome: current approach and the future of therapies]. [Autism: associated medical conditions]. [Contribution of the Ibero-American Academy of Neuropediatrics to the knowledge of self-limited epilepsy in infants]. [Epilepsy or functional neurological disorder. Diagnostic strategies]. [Epileptic syndromes in pediatrics. What's new?]
×
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