[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
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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。
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[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.

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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?]
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