治疗syn1相关癫痫发作：系统综述

IF 2.7 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy Pub Date : 2025-05-26 DOI:10.1016/j.seizure.2025.05.017

Elisabeth Van Boxstael , Eric Vigneul , Susana Ferrao Santos

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引用次数: 0

摘要

突触蛋白1相关癫痫是一种罕见的疾病，患者通常表现为接触水引起的反射性癫痫发作。此外，携带突触素1基因（SYN1）致病性变异的患者可能出现发育迟缓、行为障碍和其他类型的癫痫发作。虽然syn1相关癫痫的特征越来越明显，但对于使用合适的抗癫痫药物（ASM）仍未达成共识。材料和方法：为了比较asm在这种特殊综合征中的疗效，我们使用PubMed和Embase数据库，根据PRISMA指南进行了系统的文献综述。本综述纳入了所有反映与syn1相关癫痫治疗相关的癫痫发作结局的研究，除了那些不是用英文撰写的或以海报、评论或会议摘要形式发表的研究。结果：从文献中检索到8项研究和52例有良好记录的治疗。最常用的是丙戊酸（VPA）（58%）、拉莫三嗪（LTG）（35%）和卡马西平（CBZ）（35%）。对于无癫痫发作的患者，最有效的asm是拉科沙胺（LCM）（50%）、奥卡西平（OXC）（44%）和CBZ（38%）。当考虑癫痫发作自由或显著（≥50%）癫痫发作减少时，最佳治疗是LTG(63%)，其次是LCM（50%）和CBZ（50%）。与左乙拉西坦（LEV）或VPA相比，LTG、CBZ、OXC和LCM似乎与更有利的癫痫发作结果相关，携带非截断变体的患者在癫痫发作减少（p = 0.028）和癫痫发作自由（p = 0.047）方面具有统计学显著差异。结论：根据我们的系统文献综述，与VPA和LEV相比，LCM、LTG、CBZ或OXC治疗syn1相关癫痫患者可更好地降低发作频率，尽管VPA是该综合征最常用的抗癫痫药物。因此，钠通道阻滞剂似乎是这些患者的最佳治疗选择。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Treating seizures in SYN1-related epilepsy: a systematic review

Introduction: Synapsin1-related epilepsy is a rare entity, in which patients typically present reflex seizures, provoked by contact with water. Moreover, patients carrying a pathogenic variant of the synapsin 1 gene (SYN1) can present developmental delay, behavior disorders, and other types of seizures. While SYN1-related epilepsy becomes better characterized, there is still no consensus on the appropriate antiseizure medication (ASM) to use.

Materials and methods: To compare ASMs efficacies in this particular syndrome, we performed a systematic literature review according to the PRISMA guidelines by using PubMed and Embase databases. All the studies reflecting the seizure outcome associated with the treatment of SYN1-related epilepsy were included in the present review, except those that were not written in English or were in the forms of poster, commentary, or conference abstract.

Results: Eight studies and a total of 52 patients with well-documented treatment were retrieved from the literature. The most frequently used ASMs were valproic acid (VPA) (58 %), lamotrigine (LTG) (35 %) and carbamazepine (CBZ) (35 %). Regarding seizure-free patients, the most effective ASMs were lacosamide (LCM) (50 %), oxcarbazepine (OXC) (44 %) and CBZ (38 %). When considering seizure-freedom or significant (≥ 50 %) seizure reduction, the best treatment is LTG (63 %), followed by LCM (50 %) and CBZ (50 %). LTG, CBZ, OXC and LCM seem to be associated with a more favorable seizure outcome compared to levetiracetam (LEV) or VPA, with a statistically significant difference in terms of seizure reduction (p = 0.028) and seizure freedom for patients carrying a non-truncating variant (p = 0.047).

Conclusion: Based on our systematic literature review, patients with SYN1-related epilepsy show better seizure frequency reduction when treated with LCM, LTG, CBZ, or OXC, compared to VPA and LEV, despite VPA being the most prescribed anti-seizure medication for this syndrome. Hence, sodium channel blockers appear to represent the best therapeutic option for these patients.

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来源期刊

Seizure-European Journal of Epilepsy 医学-临床神经学

CiteScore

5.60

自引率

6.70%

发文量

231

审稿时长

34 days

期刊介绍： Seizure - European Journal of Epilepsy is an international journal owned by Epilepsy Action (the largest member led epilepsy organisation in the UK). It provides a forum for papers on all topics related to epilepsy and seizure disorders.