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特发性全身性癫痫患者的无癫痫发作及停药情况:来自三级癫痫门诊服务的回顾性队列研究

Seizure freedom and therapy discontinuation in patients with idiopathic generalized epilepsy: retrospective cohort study from a tertiary epilepsy outpatient service.

作者信息

Curti Davide G, Bellini Anna, Cursi Marco, Lanzone Jacopo, Minicucci Fabio, Fanelli Giovanna F, Agosta Federica, Filippi Massimo

机构信息

Neurology Unit, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy.

Neurophysiology Service, IRCCS San Raffaele Scientific Institute, Milan, Italy.

出版信息

J Neurol. 2025 Feb 22;272(3):218. doi: 10.1007/s00415-025-12890-y.

DOI:10.1007/s00415-025-12890-y
PMID:39985574
Abstract

BACKGROUND

Idiopathic generalized epilepsy (IGE) affects young individuals and is typically successfully managed with anti-seizure medications (ASMs). Discontinuing therapy in IGE patients is a critical decision due to the risk of seizure recurrence. This study aims to identify factors influencing seizure freedom (SF) or relapse after ASM discontinuation.

METHODS

We retrospectively reviewed the medical records of patients seen at our clinic between 2002 and 2024. Collected data included demographics, disease history, seizure types, ASMs used, EEG findings, outcomes related to SF and ASM withdrawal.

RESULTS

We identified 322 records, with a mean age of 30 ± 12.4 years and an age at onset of 16 ± 5.9 years. On average, patients tried 1.9 ASMs, 23% on polytherapy. The main seizure types were generalized tonic-clonic seizures (GTCS) in 53.1%, myoclonic seizures in 31.7%, absences in 15.2%. SF was achieved by 76.6%. Patients with GTCS as main seizure type or presenting with GTCS in the first year of disease experienced a delayed achievement of SF. ASM discontinuation was attempted in 64 patients. Predictors of relapse after discontinuation were myoclonic and generalized seizures as principal seizure type and higher seizure frequency. Early SF and lower seizure frequency were associated with successful discontinuation. EEG predictors of discontinuation failure included worsening during treatment tapering and specific abnormalities, such as spike waves, photosensitivity, and hyperpnoea sensitivity.

CONCLUSIONS

This study provides long-term follow-up data on IGE patients, highlighting key predictors of seizure control, including GTCS or myoclonic seizures and a rapid initial ASM response. EEG emerges as a valuable tool for the longitudinal monitoring of patients undergoing ASM discontinuation.

摘要

背景

特发性全身性癫痫(IGE)影响年轻人,通常使用抗癫痫药物(ASM)能成功控制病情。由于存在癫痫复发风险,IGE患者停药是一个关键决策。本研究旨在确定影响停药后癫痫发作缓解(SF)或复发的因素。

方法

我们回顾性分析了2002年至2024年在我们诊所就诊患者的病历。收集的数据包括人口统计学信息、疾病史、癫痫发作类型、使用的ASM、脑电图结果、与SF和ASM停药相关的结局。

结果

我们确定了322份记录,平均年龄为30±12.4岁,发病年龄为16±5.9岁。患者平均尝试使用1.9种ASM,23%接受联合治疗。主要癫痫发作类型为全身性强直阵挛发作(GTCS)占53.1%,肌阵挛发作占31.7%,失神发作占15.2%。76.6%的患者实现了SF。以GTCS为主要癫痫发作类型或在疾病第一年出现GTCS的患者实现SF的时间延迟。64例患者尝试停药。停药后复发的预测因素是以肌阵挛和全身性发作作为主要癫痫发作类型以及癫痫发作频率较高。早期SF和较低的癫痫发作频率与停药成功相关。停药失败的脑电图预测因素包括在逐渐减药过程中病情恶化以及特定异常,如棘波、光敏性和过度通气敏感性。

结论

本研究提供了IGE患者的长期随访数据,突出了癫痫控制的关键预测因素,包括GTCS或肌阵挛发作以及ASM的快速初始反应。脑电图成为监测ASM停药患者的有价值工具。

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本文引用的文献

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Author Response: Predictors of Seizure Recurrence in Women With Idiopathic Generalized Epilepsy Who Switch From Valproate to Another Medication.作者回复:从丙戊酸盐转换为另一种药物治疗的特发性全身性癫痫女性患者癫痫复发的预测因素。
Neurology. 2024 Nov 26;103(10):e209668. doi: 10.1212/WNL.0000000000209668. Epub 2024 Oct 28.
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A systematic review and meta-analysis of factors related to first line drugs refractoriness in patients with juvenile myoclonic epilepsy (JME).一项关于与青少年肌阵挛癫痫(JME)患者一线药物耐药性相关因素的系统回顾和荟萃分析。
PLoS One. 2024 Apr 9;19(4):e0300930. doi: 10.1371/journal.pone.0300930. eCollection 2024.
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Antiseizure medication withdrawal in adult patients with idiopathic generalized epilepsy: Performance of two seizure recurrence prediction models.
特发性全身性癫痫成年患者停用抗癫痫药物:两种癫痫复发预测模型的性能
Epilepsy Behav. 2024 Apr;153:109718. doi: 10.1016/j.yebeh.2024.109718. Epub 2024 Feb 29.
4
Quantified fat fraction as biomarker assessing disease severity in rare Charcot-Marie-Tooth subtypes.定量脂肪分数作为评估罕见遗传性运动感觉神经病亚型疾病严重程度的生物标志物。
Front Neurol. 2024 Jan 29;14:1334976. doi: 10.3389/fneur.2023.1334976. eCollection 2023.
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Epilepsy with generalized tonic-clonic seizures alone: Electroclinical features and prognostic patterns.单纯全面性强直-阵挛发作的癫痫:临床电特征和预后模式。
Epilepsia. 2024 Jan;65(1):84-94. doi: 10.1111/epi.17809. Epub 2023 Nov 3.
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Routine and sleep EEG: Minimum recording standards of the International Federation of Clinical Neurophysiology and the International League Against Epilepsy.常规脑电图和睡眠脑电图:国际临床神经生理学联合会及国际抗癫痫联盟的最低记录标准。
Clin Neurophysiol. 2023 Mar;147:108-120. doi: 10.1016/j.clinph.2023.01.002. Epub 2023 Jan 23.
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Epilepsia. 2022 Jun;63(6):1475-1499. doi: 10.1111/epi.17236. Epub 2022 May 3.
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