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Effects of anti-seizure medications on resting-state functional networks in juvenile myoclonic epilepsy: An EEG microstate analysis 抗癫痫药物对青少年肌阵挛性癫痫静息状态功能网络的影响:脑电图微态分析。
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.seizure.2024.12.004
Ying Li , Yibo Zhao , Yanan Chen , Mingxian Meng , Zhe Ren , Zongya Zhao , Na Wang , Ting Zhao , Beijia Cui , Mingmin Li , Jin Liu , Qi Wang , Jiuyan Han , Bin Wang , Xiong Han

Objective

Juvenile myoclonic epilepsy (JME) is associated with large-scale brain network dysfunction. This study aims to investigate how anti-seizure medication (ASM) treatment alters resting-state functional networks in JME patients through resting-state EEG microstate analysis.

Methods

Ninety-six subjects participated in this study: 24 healthy controls (HC), 29 newly diagnosed JME patients who had not started ASMs therapy (JME-NM), and 43 JME patients on ASMs treatment with effective seizure control (JME-M). EEG data were collected for 10 min while participants were awake and resting with their eyes closed, using a standard 19-channel recording system. EEG topographies were categorized into four microstate classes (A, B, C, D), and parameters such as mean duration, occurrence rate, time coverage, and transition probabilities between microstates were computed and compared among the three groups. Advanced statistical methods were employed to ensure the robustness and validity of the findings.

Results

Significant alterations in EEG microstate characteristics were observed in untreated JME patients (JME-NM) compared to both healthy controls and treated patients. Microstate B had a markedly reduced mean duration in the JME-NM group, while microstate A displayed an increased occurrence rate and greater time coverage. Transition probabilities between specific microstates, such as from A to C, A to D, and B to C, were also significantly different in the JME-NM group. The normalization of these parameters in the JME-M group suggests that ASMs effectively stabilize altered brain networks, potentially mitigating the pathophysiological disruptions associated with JME.

Conclusion

This study demonstrates that ASMs effectively normalize disruptions in sensory-motor and visual networks in JME patients. EEG microstate analysis provides a dynamic view of brain network alterations and offers potential as a biomarker for the diagnosis and monitoring of JME, as well as for evaluating treatment response. These findings advance our understanding of the neurophysiological mechanisms underlying JME.
目的:青少年肌阵挛性癫痫(JME)与大范围脑网络功能障碍有关。本研究旨在通过静息状态脑电图微态分析,探讨抗癫痫药物(ASM)治疗如何改变JME患者静息状态功能网络。方法:96例受试者:健康对照24例(HC),未开始抗痉挛治疗(JME- nm)的新诊断JME患者29例(JME- nm),接受抗痉挛治疗并有效控制发作(JME- m)的JME患者43例(JME- m)。使用标准的19通道记录系统,在参与者清醒和闭眼休息时收集10分钟的脑电图数据。将脑电地形分为A、B、C、D四种微状态,计算并比较三种微状态间的平均持续时间、发生率、时间覆盖、转移概率等参数。采用先进的统计方法,以确保研究结果的稳健性和有效性。结果:与健康对照组和治疗组相比,未经治疗的JME患者(JME- nm)的脑电图微状态特征发生了显著变化。在JME-NM组中,微状态B的平均持续时间明显缩短,而微状态a的发生率增加,时间覆盖范围更广。特定微观状态(如从A到C、从A到D、从B到C)之间的转移概率在JME-NM组中也有显著差异。JME- m组这些参数的正常化表明,asm有效地稳定了改变的大脑网络,潜在地减轻了与JME相关的病理生理破坏。结论:本研究表明,asm有效地使JME患者的感觉-运动和视觉网络的中断正常化。脑电图微状态分析提供了大脑网络变化的动态视图,并为JME的诊断和监测以及评估治疗反应提供了潜在的生物标志物。这些发现促进了我们对JME神经生理机制的理解。
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引用次数: 0
Ramadan fasting in adolescents with epilepsy: Seizure control and behavioral outcome 青少年癫痫患者斋月禁食:癫痫发作控制和行为结果。
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.seizure.2024.12.007
Rehab Magdy , Nirmeen Kishk , Salsabil Abo Al-Azayem , Mona Hussein , Imane A. Yassine , Mennat-Allah Tarek , Eman Hany Elsebaie , Mohamed A. Abdeltwab , Alshimaa S. Othman

Objectives

Data about the effect of Ramadan fasting on seizure control among adolescents with epilepsy (AWE) is scarce. Several psycho-behavioral problems have also been encountered in this teenage group. This study aimed to assess seizure frequency and behavioral outcomes after Ramadan fasting in a sample of AWE

Methods

In this prospective study, AWE who completed fasting during Ramadan 2024 were evaluated regarding the seizure frequency of each type during Shaban (the month immediately preceding Ramadan) and Ramadan. Three questionnaires were requested to be answered at the end of two months. They were Patient Health Questionnaire (PHQ-9), Modified Overt Aggression Scale (MOAS), and Barratt Impulsiveness Scale–Short Form (BIS-11-SF) for assessment of depression, aggression, and impulsivity, respectively

Results

One hundred twenty AWE, with a median age of 15 and IQR 13–17, were evaluated. There was a statistically significant reduction in seizure frequency regarding focal onset seizures during Ramadan compared to Shaaban (P 0.009), as well as generalized non-motor (absence) seizures (P 0.027). The MOAS-total scores significantly reduced during Ramadan than Shaaban (P 0.003), as well as the scores of non-planning impulsivity of BIS-11-SF (P 0.005). On the other hand, depression assessed by PHQ-9 did not significantly differ between the two months

Conclusion

Fasting Ramadan is associated with better control of multiple seizure types, including focal and generalized-onset non-motor (absence) seizures, besides psycho-behavioral aspects of aggression & non-planning impulsivity, without worsening of other seizure types nor depression, among AWE.
目的:关于斋月禁食对青少年癫痫(AWE)发作控制效果的数据很少。在这个青少年群体中也遇到了一些心理行为问题。方法:在这项前瞻性研究中,对2024年斋月期间完成斋戒的AWE患者在斋月期间(斋月前一个月)和斋月期间的每种类型的癫痫发作频率进行评估。要求在两个月结束时回答三份问卷。采用患者健康问卷(PHQ-9)、改良外显攻击量表(MOAS)和Barratt冲动性简易量表(BIS-11-SF)分别评估抑郁、攻击和冲动性。结果:共评估120名AWE患者,中位年龄15岁,IQR 13-17。与沙班相比,斋月期间局灶性癫痫发作频率有统计学意义的降低(P 0.009),以及全面性非运动(缺席)癫痫发作(P 0.027)。斋月期间moas总分显著低于斋月期间(P 0.003), BIS-11-SF非计划性冲动得分显著低于斋月期间(P 0.005)。结论:斋戒斋月能较好地控制包括局灶性和广泛性非运动性(失神)发作在内的多种发作类型,以及攻击性和非计划性冲动等心理行为方面的发作,且对AWE患者的其他发作类型和抑郁无加重作用。
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引用次数: 0
Drug-refractory epilepsy due to a novel CLN5 mutation: A report of three patients from an Indian family 一种新的CLN5突变引起的药物难治性癫痫:来自一个印度家庭的三例患者的报告。
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.seizure.2024.11.017
Shiny Joy , Ayush Agarwal , Jupita Handique , Mahino Fatima , Divyani Garg , Pooja Sharma , Roopa Rajan , Ajay Garg , Mohd Faruq , Achal K. Srivastava

Introduction

Neuronal Ceroid Lipofuscinosis (NCL) are a group of lysosomal storage disorders characterised by progressive neurodegeneration caused by an accumulation of ceroid lipopigment in lysosomes of neurons and other cell types. Adult-onset NCL (Kufs disease) differs from childhood forms by its later onset and preserved vision. Type A (Kufs A) presents as progressive myoclonus epilepsy (PME), while Type B (Kufs B) manifests as dementia with motor involvement. Both subtypes have distinct causative genes.

Methods

We have described 3 siblings with genetically confirmed novel pathogenic CLN5 subtype who presented with developmental regression, drug-refractory myoclonic epilepsy, and dementia (Kufs A).

Results

We have presented 3 siblings with adult onset NCL with Kufs A (not Kufs B) phenotype, which has been rarely documented.

Conclusion

Genotypic-phenotypic variations are increasingly being reported for NCL. We have described three patients from a family with CLN5 subtype who had prominent drug refractory myoclonic epilepsy, which is extremely rare.
简介神经细胞钙样脂褐质沉着病(NCL)是一组溶酶体储积症,其特征是神经细胞和其他类型细胞的溶酶体中钙样脂色素的积累导致进行性神经变性。成人型 NCL(Kufs 病)与儿童型 NCL(Kufs 病)的不同之处在于发病较晚且视力得以保留。A 型(Kufs A)表现为进行性肌阵挛癫痫(PME),而 B 型(Kufs B)则表现为运动受累性痴呆。这两种亚型都有不同的致病基因:方法:我们描述了经基因证实的新型致病性 CLN5 亚型的 3 对兄妹,他们表现为发育倒退、药物难治性肌阵挛性癫痫和痴呆(Kufs A):结果:我们发现了3对成人发病的NCL兄弟姐妹,他们的表型为Kufs A(而非Kufs B),这在临床上很少见:结论:关于 NCL 基因型-表型变异的报道越来越多。我们描述了一个家族中的三名 CLN5 亚型患者,他们都有突出的药物难治性肌阵挛性癫痫,这种情况极为罕见。
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引用次数: 0
Elementary school enrollment after ACTH therapy for patients with infantile epileptic spasms syndrome 小学入学后ACTH治疗对婴儿癫痫痉挛综合征患者的影响。
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.seizure.2024.12.002
Ryuki Matsuura , Shin-ichiro Hamano , Yuko Hirata , Azusa Oba , Haruhito Horita , Hirokazu Takeuchi , Reiko Koichihara , Kenjiro Kikuchi , Akira Oka

Purpose

Infantile epileptic spasms syndrome (IESS) often has a severe neurodevelopmental prognosis. However, few studies have examined the aspect of elementary school enrollment. This study evaluated elementary school enrollment after adrenocorticotropic hormone (ACTH) therapy in patients with IESS.

Methods

We retrospectively evaluated the elementary school enrollment of patients with IESS who were administered ACTH at the Saitama Children's Medical Center between January 1993 and August 2024. We evaluated elementary school enrollment, seizure outcomes, motor development, and intellectual development at the time of school enrollment in the ACTH responder and nonresponder groups. Response was defined as complete remission of epileptic spasms and no other seizure occurrence from ACTH administration initiation until the age of 6 years.

Results

In total, 116 patients (62 male) were included in this study. The median age at IESS onset was 5 (range, 0–24) months. Twenty-seven patients (23.3 %) maintained complete remission of epileptic spasms from ACTH initiation to elementary school enrollment. The responder group had a significantly higher rate of regular class attendance (48.1 %) and exhibited normal intelligence or developmental quotient (33.3 %) compared with the nonresponder group (p < 0.01 and p < 0.01, respectively). Patients with an unknown etiology were more likely to attend regular classes (37.5 %). The median age of the last hospital visit was 13 (6.0–24.4) years. Lennox-Gastaut syndrome was diagnosed in 5.2 % (6/116) of patients at the last visit.

Conclusion

Our findings can help pediatricians predict elementary school enrollment and neurodevelopmental outcomes in patients with IESS receiving ACTH therapy.
目的:婴儿癫痫性痉挛综合征(IESS)通常具有严重的神经发育预后。然而,很少有研究对小学入学率方面进行调查。本研究评估IESS患者接受促肾上腺皮质激素(ACTH)治疗后的小学入学情况。方法:我们回顾性评估1993年1月至2024年8月在埼玉儿童医疗中心接受ACTH治疗的IESS患者的小学入学情况。我们评估了ACTH有反应组和无反应组入学时的小学入学率、癫痫发作结果、运动发育和智力发展。反应被定义为癫痫痉挛完全缓解,从ACTH给药开始到6岁没有其他癫痫发作。结果:共纳入116例患者,其中男性62例。ess发病的中位年龄为5个月(范围0-24个月)。27例患者(23.3%)从ACTH开始到小学入学保持癫痫痉挛完全缓解。与无应答组相比,应答组的正常出勤率(48.1%)和智力或发展商(33.3%)均显著高于无应答组(p < 0.01和p < 0.01)。病因不明的患者更有可能参加常规课程(37.5%)。最后一次就诊的中位年龄为13岁(6.0 ~ 24.4岁)。最后一次访视时,5.2%(6/116)的患者被诊断为lenox - gastaut综合征。结论:我们的研究结果可以帮助儿科医生预测接受ACTH治疗的IESS患者的小学入学率和神经发育结局。
{"title":"Elementary school enrollment after ACTH therapy for patients with infantile epileptic spasms syndrome","authors":"Ryuki Matsuura ,&nbsp;Shin-ichiro Hamano ,&nbsp;Yuko Hirata ,&nbsp;Azusa Oba ,&nbsp;Haruhito Horita ,&nbsp;Hirokazu Takeuchi ,&nbsp;Reiko Koichihara ,&nbsp;Kenjiro Kikuchi ,&nbsp;Akira Oka","doi":"10.1016/j.seizure.2024.12.002","DOIUrl":"10.1016/j.seizure.2024.12.002","url":null,"abstract":"<div><h3>Purpose</h3><div>Infantile epileptic spasms syndrome (IESS) often has a severe neurodevelopmental prognosis. However, few studies have examined the aspect of elementary school enrollment. This study evaluated elementary school enrollment after adrenocorticotropic hormone (ACTH) therapy in patients with IESS.</div></div><div><h3>Methods</h3><div>We retrospectively evaluated the elementary school enrollment of patients with IESS who were administered ACTH at the Saitama Children's Medical Center between January 1993 and August 2024. We evaluated elementary school enrollment, seizure outcomes, motor development, and intellectual development at the time of school enrollment in the ACTH responder and nonresponder groups. Response was defined as complete remission of epileptic spasms and no other seizure occurrence from ACTH administration initiation until the age of 6 years.</div></div><div><h3>Results</h3><div>In total, 116 patients (62 male) were included in this study. The median age at IESS onset was 5 (range, 0–24) months. Twenty-seven patients (23.3 %) maintained complete remission of epileptic spasms from ACTH initiation to elementary school enrollment. The responder group had a significantly higher rate of regular class attendance (48.1 %) and exhibited normal intelligence or developmental quotient (33.3 %) compared with the nonresponder group (<em>p</em> &lt; 0.01 and <em>p</em> &lt; 0.01, respectively). Patients with an unknown etiology were more likely to attend regular classes (37.5 %). The median age of the last hospital visit was 13 (6.0–24.4) years. Lennox-Gastaut syndrome was diagnosed in 5.2 % (6/116) of patients at the last visit.</div></div><div><h3>Conclusion</h3><div>Our findings can help pediatricians predict elementary school enrollment and neurodevelopmental outcomes in patients with IESS receiving ACTH therapy.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 80-84"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Authors' response to letter by Amanda Medeiros Fernandes et al.
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-12-27 DOI: 10.1016/j.seizure.2024.12.018
Yu Zhang, Haijiao Wang, Ling Liu
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引用次数: 0
Prevalence of posttraumatic stress disorder in adults with epilepsy: A meta-analysis
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-12-24 DOI: 10.1016/j.seizure.2024.12.013
Deniz Ertan , Alexis Tarrada , Wissam El-Hage , Stephane Sanchez , Emeline Four , Nicolas Mezouar , Louis Maillard , Jan Chrusciel , Coraline Hingray
Many studies highlight the increased risk of posttraumatic stress disorder (PTSD) in people with epilepsy (PWE). Despite the presence of significant research focusing on PTSD in PWE, the methodologies and results of these studies are heterogenous. Therefore, we aim to synthetize the literature and assess the prevalence of PTSD in PWE. We conducted a systematic literature to calculate a pooled prevalence of PTSD in adults with epilepsy. If the studies included patients with functional/dissociative seizure (FDS), a pooled prevalence of PTSD was also calculated for this group. The literature search yielded 10,732 articles, of which 38 studies met our inclusion criteria. High heterogeneity in PTSD prevalence estimates was found across studies for both epilepsy (I2= 97.0 %) and FDS (I2 = 90.7 %). The pooled prevalence of PTSD among the epilepsy group (n = 5545) was 7.7 % [95 % CI: 5.2 %; 11.2 %], whereas for the FDS group (n = 1409), it was 33.4 % [95 % CI: 23.4 %; 45.2 %]. Our sensitivity analysis, including only studies with semi-structured interviews and validated questionnaires, found a pooled PTSD prevalence of 6.7 % [95 % CI: 4.3 to 10.3] in epilepsy patients and 33.1 % [95 % CI: 21.8 to 46.8] in FDS patients. Our study underscores the importance of systematically evaluating traumatic experiences as using standardized, validated scales combined with structured clinical interviews for PTSD diagnosis.
{"title":"Prevalence of posttraumatic stress disorder in adults with epilepsy: A meta-analysis","authors":"Deniz Ertan ,&nbsp;Alexis Tarrada ,&nbsp;Wissam El-Hage ,&nbsp;Stephane Sanchez ,&nbsp;Emeline Four ,&nbsp;Nicolas Mezouar ,&nbsp;Louis Maillard ,&nbsp;Jan Chrusciel ,&nbsp;Coraline Hingray","doi":"10.1016/j.seizure.2024.12.013","DOIUrl":"10.1016/j.seizure.2024.12.013","url":null,"abstract":"<div><div>Many studies highlight the increased risk of posttraumatic stress disorder (PTSD) in people with epilepsy (PWE). Despite the presence of significant research focusing on PTSD in PWE, the methodologies and results of these studies are heterogenous. Therefore, we aim to synthetize the literature and assess the prevalence of PTSD in PWE. We conducted a systematic literature to calculate a pooled prevalence of PTSD in adults with epilepsy. If the studies included patients with functional/dissociative seizure (FDS), a pooled prevalence of PTSD was also calculated for this group. The literature search yielded 10,732 articles, of which 38 studies met our inclusion criteria. High heterogeneity in PTSD prevalence estimates was found across studies for both epilepsy (I<sup>2</sup>= 97.0 %) and FDS (I<sup>2</sup> = 90.7 %). The pooled prevalence of PTSD among the epilepsy group (<em>n</em> = 5545) was 7.7 % [95 % CI: 5.2 %; 11.2 %], whereas for the FDS group (<em>n</em> = 1409), it was 33.4 % [95 % CI: 23.4 %; 45.2 %]. Our sensitivity analysis, including only studies with semi-structured interviews and validated questionnaires, found a pooled PTSD prevalence of 6.7 % [95 % CI: 4.3 to 10.3] in epilepsy patients and 33.1 % [95 % CI: 21.8 to 46.8] in FDS patients. Our study underscores the importance of systematically evaluating traumatic experiences as using standardized, validated scales combined with structured clinical interviews for PTSD diagnosis.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"126 ","pages":"Pages 32-42"},"PeriodicalIF":2.7,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143285077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Modified Atkins Diet versus low glycemic index treatment in children with drug-resistant epilepsy: A systematic review and meta-analysis. 改良阿特金斯饮食与低血糖指数治疗对儿童耐药癫痫的影响:一项系统回顾和荟萃分析
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-12-04 DOI: 10.1016/j.seizure.2024.12.001
Indar Kumar Sharawat, Pragnya Panda, Lesa Dawman, Diksha Gupta, Prateek Kumar Panda

Introduction: Both the Modified Atkins Diet (MAD) and Low Glycemic Index Treatment(LGIT) are considered less restrictive than the ketogenic diet and effective in children with drug-resistant epilepsy(DRE). Several randomized controlled trials (RCTs) have compared these two diets.

Methods: All RCTs directly comparing MAD and LGIT for DRE were included in the review. We pooled estimates for percentage seizure frequency reduction, the number of participants with seizure freedom, ≥90 % and ≥50 % reduction in seizure frequency, as well as changes in cognition, behavior, and adverse effects in both groups.

Results: Three RCTs with 265 participants were included. The pooled estimates for the number of children achieving seizure freedom, ≥50 %, and ≥90 % reduction in seizure frequency post-intervention, as well as weekly percentage seizure frequency reduction, were comparable between the MAD and LGIT groups(RR: 1.24 [95 % CI: 0.71-2.16]; I²=0 %, p = 0.45, RR: 0.86 [95 % CI: 0.57-1.29]; I²=62 %, p = 0.45, RR: 1.35 [95 % CI: 0.82-2.21]; I²=5 %, p = 0.24, and MD:6.5 [95 % CI:13.8 to 0.6]; I²=45 %, p = 0.07). The number of children showing improvement in cognition and changes in behavioral comorbidities were also comparable between the groups(p = 0.60 and 0.21). However, the MAD group had a higher incidence of adverse effects(RR: 1.37 [95 % CI: 1.12-1.68]; I²=42 %, p = 0.002), though the number of participants experiencing serious adverse effects was similar in both groups(RR: 1.68 [95 % CI: 0.71-3.99]; I²=0 %, p = 0.24). Adherence rates to the allocated intervention were numerically higher in the LGIT group(p = 0.73).

Conclusion: Both MAD and LGIT are comparable in efficacy, but LGIT is associated with fewer adverse effects.

改良阿特金斯饮食(MAD)和低血糖指数治疗(LGIT)都被认为比生酮饮食限制更少,对耐药癫痫(DRE)儿童有效。几项随机对照试验(rct)比较了这两种饮食。方法:纳入所有直接比较MAD和LGIT治疗DRE的随机对照试验。我们汇总了两组中癫痫发作频率降低百分比、癫痫发作自由受试者人数、癫痫发作频率降低≥90%和≥50%、认知、行为和不良反应的变化。结果:纳入3项随机对照试验,共265名受试者。在MAD组和LGIT组之间,实现癫痫发作自由、干预后癫痫发作频率减少≥50%和≥90%的儿童人数以及每周癫痫发作频率减少百分比的合并估计是相当的(RR: 1.24 [95% CI: 0.71-2.16];I²= 0%,p = 0.45, RR: 0.86 [95% CI: 0.57-1.29];我²= 62%,p = 0.45, RR: 1.35(95%置信区间:0.82—-2.21);²= 5%,p = 0.24, MD: 6.5(95%置信区间CI: 13.8 - 0.6);I²= 45%,p = 0.07)。两组之间表现出认知改善和行为合并症改变的儿童数量也具有可比性(p = 0.60和0.21)。然而,MAD组不良反应发生率较高(RR: 1.37 [95% CI: 1.12-1.68];I²= 42%,p = 0.002),尽管两组中出现严重不良反应的参与者数量相似(RR: 1.68 [95% CI: 0.71-3.99];I²=0 %,p = 0.24)。LGIT组对分配干预的依从率在数值上更高(p = 0.73)。结论:MAD与LGIT的疗效相当,但LGIT的不良反应较少。
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引用次数: 0
MRI in older patients-A focused review. MRI在老年患者中的应用——重点综述。
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-11-30 DOI: 10.1016/j.seizure.2024.11.015
Stephan Seiler, Christian Enzinger

MRI has considerably increased our pathophysiological knowledge of age-related brain abnormalities. Brain abnormalities regularly seen on MRI of older adults are atrophy, and changes related to small vessel disease (SVD). SVD-related changes include white matter hyperintensities (WMH), lacunes, microbleeds, microinfarcts and perivascular spaces. While atrophy, WMH and lacunes are recognized as important contributors to cognitive decline and dementia, relationships are less clear for microbleeds, microinfarcts and perivascular spaces. Vascular risk factors are considered critical in the development of these changes and being potentially modifiable have become increasingly interesting to researchers and clinicians alike. Managing vascular risk early, particularly hypertension, is a key factor in slowing down the evolution of age-related brain abnormalities and decelerate their detrimental cognitive consequences. Cognition and visible brain abnormalities have a complex relationship, which reaches far beyond what we can understand using standard MRI. Remote effects of lesions and associated- as well as independent network changes likely explain much of the different cognitive trajectories observed with aging. Because of the versatility of MRI in the diagnostic of various diseases, including epilepsy, incident signs of brain aging will be encountered ever more frequently on standard MRI of older adults. To facilitate understanding and ultimately reporting these changes to patients, this review will give a brief overview of MRI findings encountered on MRI of older people. We will discuss their pathology, risk factors, and relationships with cognition. Special emphasis will be given to more recent developments, including remote effects of lesions, and effects on the structural brain network. Relationships between MRI findings in older people and epilepsy will be discussed as well.

核磁共振成像大大增加了我们对与年龄有关的大脑异常的病理生理学知识。老年人MRI上常见的脑异常是萎缩,以及与小血管疾病(SVD)相关的变化。svd相关的改变包括白质高信号(WMH)、腔隙、微出血、微梗死和血管周围间隙。虽然萎缩、WMH和腔隙被认为是认知能力下降和痴呆的重要因素,但微出血、微梗死和血管周围间隙之间的关系尚不清楚。血管危险因素在这些变化的发展中被认为是至关重要的,并且潜在的可修改性已经成为研究人员和临床医生越来越感兴趣的问题。早期管理血管风险,特别是高血压,是减缓与年龄相关的大脑异常演变和减缓其有害认知后果的关键因素。认知和可见的大脑异常有着复杂的关系,这远远超出了我们使用标准MRI所能理解的范围。损伤的远程影响和相关的以及独立的网络变化可能解释了随着年龄的增长所观察到的不同的认知轨迹。由于MRI在包括癫痫在内的各种疾病的诊断中的多功能性,在老年人的标准MRI上将更频繁地遇到脑老化的事件迹象。为了便于理解并最终向患者报告这些变化,本综述将简要概述老年人MRI的MRI结果。我们将讨论其病理、危险因素以及与认知的关系。将特别强调最近的发展,包括病变的远程影响,以及对脑结构网络的影响。老年人的MRI结果与癫痫之间的关系也将被讨论。
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引用次数: 0
Drug arrows in the quiver-antiseizure, antiepileptic and neuroprotective medication: Treatment and future aspects. A focused review. 药物箭箭——抗癫痫、抗癫痫和神经保护药物:治疗及未来展望。重点回顾。
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-11-30 DOI: 10.1016/j.seizure.2024.11.016
Elinor Ben-Menachem

Drug discovery for the treatment of epilepsy is entering a new era especially with the advancement of genetic therapies as disease modifying, antiepileptogenic therapies. Even new ideas about re-purposed medication with purposed epileptogenic properties have been suggested. The possibilities are enormous, and it is encouraging that so many ideas are flourishing. The focus of this review is to discuss where to concentrate efforts to improve the lives of people with epilepsy (PWE) with medical treatment, especially the elderly who have many challenges besides just seizures. Thus, the arrow needs to be not only focused on DRE patients, but to try to redirect the arrow to prevent the development of seizures before onset as well as preventing refractoriness at the very beginning herald by the first seizures.

治疗癫痫的药物发现正在进入一个新的时代,特别是随着基因治疗作为疾病修饰、抗癫痫治疗的进展。甚至提出了一些新的想法,即重新使用具有特定致痫特性的药物。可能性是巨大的,令人鼓舞的是,这么多的想法正在蓬勃发展。本综述的重点是讨论如何集中力量改善癫痫患者(PWE)的医疗生活,特别是老年人谁有许多挑战,而不仅仅是癫痫发作。因此,箭头不仅需要关注DRE患者,还需要尝试重新定向箭头,以预防发作前癫痫发作的发展,并在第一次癫痫发作的一开始就预防难治性。
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引用次数: 0
Diagnostic yields of genetic testing and related benefits in infantile epileptic spasms syndrome: A systematic review and meta-analysis 婴儿癫痫痉挛综合征基因检测的诊断率及相关益处:系统回顾和荟萃分析
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-11-24 DOI: 10.1016/j.seizure.2024.11.014
Xinyu Feng , Jie Yang , Ningning Chen , Shaojun Li , Tingsong Li

Background

Diagnostic yields for infantile epileptic spasms syndrome (IESS) are notably heterogeneous across different testing modalities and studies. To investigate the proportion of individuals with IESS harboring causative/pathogenic genetic variants identified using whole-exome sequencing (WES), multi-gene panels (MGPs), and chromosomal microarray (CMA), thereby providing evidence to inform guidelines for genetic testing strategies.

Methods

The study team searched PubMed, Embase, and Cochrane Central Register of Controlled Trials between January 2012- October2023. Data were extracted and synthesized by two investigators following the preferred reporting items for systematic reviews and meta-analyses guideline. The primary outcome was the pooled diagnostic rate of individual WES, MGPs, and CMA across studies. Subgroup analyses were performed based on the inclusion of cases with tuberous sclerosis complex and the number of genes included on MGPs.

Results

Our study included 30 studies, involving 2 738 participants. The diagnostic rates in IESS for WES (13 studies, n = 799), MGPs (13 studies, n = 1 117), and CMA (13 studies, n = 629) were 26 % (95 % CI = 21 %–31 %), 20 % (95 % CI = 15 %–27 %), and 14 % (95 % CI = 11 %–16 %), respectively. WES and MGPs showed comparable diagnostic yields (P = 0.34). Our results indicated that 61.6 % of individuals with genetic IESS may potentially benefit from genetic diagnosis in terms of clinical management.

Conclusions

Our results showed that WES and MGPs exhibited comparable genetic diagnostic yields. Therefore, either method could be equally recommended as a first-tier testing approach for IESS cases with suspected genetic or unknown etiologies, especially considering the potential clinical benefits derived from genetic diagnosis.
背景不同检测方法和研究对婴儿癫痫痉挛综合征(IESS)的诊断率存在明显差异。研究小组检索了2012年1月至2023年10月期间的PubMed、Embase和Cochrane对照试验中央登记册。数据由两名研究人员按照系统综述和荟萃分析指南的首选报告项目进行提取和综合。主要结果是各研究中单个 WES、MGPs 和 CMA 的汇总诊断率。根据纳入结节性硬化症复合体病例和纳入 MGPs 基因的数量进行亚组分析。结果我们的研究纳入了 30 项研究,涉及 2 738 名参与者。WES(13 项研究,n = 799)、MGPs(13 项研究,n = 1 117)和 CMA(13 项研究,n = 629)的 IESS 诊断率分别为 26 %(95 % CI = 21 %-31%)、20 %(95 % CI = 15 %-27%)和 14 %(95 % CI = 11 %-16%)。WES 和 MGPs 的诊断率相当(P = 0.34)。我们的结果表明,61.6% 的遗传性 IESS 患者可能会在临床管理方面受益于基因诊断。因此,对于疑似遗传性或病因不明的 IESS 病例,尤其是考虑到基因诊断可能带来的临床益处,这两种方法同样可被推荐作为一级检测方法。
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引用次数: 0
期刊
Seizure-European Journal of Epilepsy
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