Seizure-European Journal of Epilepsy最新文献_第6页

The phenotype and genotype of KCNMA1 - related disorders in China 中国KCNMA1相关疾病的表型和基因型。

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-01-01 Epub Date: 2025-12-11 DOI: 10.1016/j.seizure.2025.12.006

Qiuhong Wang , Xiaojuan Tian , Jie Deng, Xiaohui Wang, Lifang Dai, Changhong Ding

Objective

The KCNMA1 gene encodes the BK K⁺ channel, which modulates neuronal and muscular excitability. Variants in this gene are associated with heterogeneous or overlapping clinical features, including movement disorders, epilepsy, and developmental delays. This study aimed to analyze the genotype-phenotype correlations of KCNMA1-related disorders in China.

Methods

Clinical and genetic datas were collected from patients diagnosed with KCNMA1-related disoreders at Beijing Children’s Hospital between January 2017 and December 2024. Literature reviews were conducted using the China National Knowledge Infrastructure (CNKI) and Wanfang databases with "KCNMA1″ as the keyword (from database establishment to December 2024) to summarize reported Chinese cases. Data on clinical phenotypes, genetic variant types, imaging findings, and prognosis were analyzed.

Results

Twenty-seven patients (20 males, 7 females) with KCNMA1 variants were included. Six presented with epilepsy and paroxysmal movement disorders, 6 with movement disorders alone, and 12 with epilepsy alone. Movement disorder types included paroxysmal nonkinesigenic dyskinesia (PNKD), ataxia, and episodic limb weakness. Seizure types encompassed generalized tonic-clonic, tonic, epileptic spasms, absence, focal, myoclonic, and atonic seizures. Twenty-six patients exhibited developmental delays, including 3 with delays alone (no seizures or movement disorders). A total of 25 distinct variants were identified, including 19 missense, 2 frameshift, 2 splice-site, 1 nonsense, and 1 deletion variant, of which 16 were novel. About genotype-phenotype correlations, among the 12 epilepsy-only cases, 8 (66.7%, 8/12) had variants located in transmembrane domains (S0–S6). Of the 12 cases with movement disorders (with or without epilepsy; 10 variants), 8 (80%, 8/10) had variants in intracellular domains, predominantly the RCK-2 region.

Conclusions

This study summarized the primary clinical features of KCNMA1 variants, including movement disorders, epilepsy, and developmental delays. Additionally, 16 novel variants were reported. Genotype-phenotype correlations analysis suggested that variants in transmembrane domains are more likely to cause epilepsy, while those in intracellular domains, especially RCK-2, are primarily associated with movement disorders, with or without epilepsy. However, further studies with larger sample sizes are needed for validation.

目的：KCNMA1基因编码BK +通道，该通道调节神经元和肌肉的兴奋性。该基因的变异与异质或重叠的临床特征有关，包括运动障碍、癫痫和发育迟缓。本研究旨在分析中国kcnma1相关疾病的基因型-表型相关性。方法：收集2017年1月至2024年12月在北京儿童医院诊断为kcnma1相关疾病的患者的临床和遗传数据。利用中国知网（CNKI）和万方数据库，以“KCNMA1″”为关键词（数据库建立至2024年12月）进行文献综述，总结中国已报道病例。分析了临床表型、遗传变异类型、影像学表现和预后的数据。结果：共纳入27例KCNMA1变异患者（男性20例，女性7例）。6例伴有癫痫和阵发性运动障碍，6例单独伴有运动障碍，12例单独伴有癫痫。运动障碍类型包括阵发性非运动源性运动障碍（PNKD）、共济失调和发作性肢体无力。发作类型包括全身性强直-阵挛、强直性、癫痫性痉挛、缺席、局灶性、肌阵挛性和无张力性发作。26例患者表现为发育迟缓，其中3例仅表现为发育迟缓（无癫痫发作或运动障碍）。共鉴定出25个不同的变异，包括19个错义变异、2个移码变异、2个剪接位点变异、1个无义变异和1个缺失变异，其中16个为新变异。关于基因型-表型相关性，在12例癫痫患者中，8例（66.7%,8/12）的变异位于跨膜结构域（S0-S6）。在12例运动障碍患者（伴有或不伴有癫痫；10例变异）中，8例（80%,8/10）在细胞内结构域发生变异，主要是RCK-2区域。结论：本研究总结了KCNMA1变异的主要临床特征，包括运动障碍、癫痫和发育迟缓。此外，还报道了16种新的变异。基因型-表型相关分析表明，跨膜结构域的变异更可能导致癫痫，而细胞内结构域的变异，尤其是RCK-2，主要与运动障碍相关，伴或不伴癫痫。然而，需要更大样本量的进一步研究来验证。

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引用次数: 0

Educational attainment of children with self-limited epilepsy with CentroTemporal spikes (SELECTS), other epilepsies, and without epilepsy: A retrospective cohort study 伴有中央颞叶尖峰（SELECTS）、其他癫痫和无癫痫的自限性癫痫患儿的受教育程度：一项回顾性队列研究

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-01-01 Epub Date: 2025-11-07 DOI: 10.1016/j.seizure.2025.11.009

Arron S Lacey , Carys B Jones , Christopher J Weir , Jacqueline Stephen , William Owen Pickrell , Richard F Chin

Background

Children with epilepsy may have poorer educational outcomes—this may not be true for all epilepsy syndromes. We investigate educational attainment of children with Self-Limited Epilepsy with CentroTemporal Spikes (SELECTS) in Wales.

Method

A retrospective cohort study using routinely-collected data for children in Wales. We used primary care diagnosis codes to identify children (0–16 years) with SELECTS, other epilepsies, and children without epilepsy (comparators). We linked these records to Key Stage (KS) 2, 3 and 4 (ages 11,14, and 16) national educational test results (2003–2021). We performed logistic regression to analyse attainment (proportion achieving required attainment) in children with SELECTS, other epilepsies, and comparators.

Results

At KS 2,3 and 4: 101,92 and 81 children with SELECTS were matched to 299,274 and 243 children with other epilepsies and comparators. A lower proportion of the SELECTS and other epilepsies groups achieved required attainment than the comparators across all key stages.

After adjusting for sex, deprivation, year of study and Anti-Seizure Medications (ASM), children with SELECTS had similar achievement to comparators in KS2 and KS3:adjusted Odds Ratio (aOR,[95 %CI]) for achieving requirement:KS2:aOR=0.97[0.87–1.09];KS3:aOR=0.99[0.88–1.10]; but slightly reduced KS4 achievement:aOR=0.89,[0.80–1.00]. Children with other epilepsies were significantly less likely to achieve the requirement than comparators:KS2:aOR=0.79[0.72–0.87], KS3:aOR=0.78[0.71–0.86],KS4:aOR=0.72[0.65–0.80].

Conclusions

There was a trend for poorer educational achievement for children with SELECTS at KS4; this was only borderline statistically significant in the adjusted model. Children with other epilepsies had an increased risk of poorer attainment across all ages when compared to children without epilepsy.

背景：癫痫患儿的学习成绩可能较差，但并非所有癫痫综合征患者都是如此。我们调查了威尔士有中央颞叶尖峰（SELECTS）的自限性癫痫患儿的受教育程度。方法回顾性队列研究，使用常规收集的威尔士儿童数据。我们使用初级保健诊断代码来识别患有select、其他癫痫和无癫痫的儿童（0-16岁）（比较者）。我们将这些记录与关键阶段（KS） 2,3和4（11岁，14岁和16岁）国家教育考试结果（2003-2021）联系起来。我们采用逻辑回归分析select患儿、其他癫痫患儿和比较者的学业成就（达到要求学业成就的比例）。结果sks 2、3和4:select患儿101例、92例和81例与其他癫痫患儿299274例和243例相匹配。在所有关键阶段，与比较组相比，select组和其他癫痫组达到所需成就的比例较低。在调整性别、剥夺、学习年份和抗癫痫药物（ASM）后，select儿童在KS2和KS3方面的成就与比较者相似：达到要求的调整优势比（aOR,[95% CI]）：KS2:aOR=0.97[0.87-1.09], KS3:aOR=0.99[0.88-1.10]；但KS4成绩略有下降：aOR=0.89,[0.80-1.00]。其他癫痫患儿达到要求的可能性明显低于对照组：KS2:aOR=0.79[0.72 - 0.87], KS3:aOR=0.78[0.71-0.86],KS4:aOR=0.72[0.65-0.80]。结论小学四年级select儿童的学习成绩有较差的趋势；在调整后的模型中，这仅具有临界统计学意义。与没有癫痫的儿童相比，患有其他癫痫的儿童在所有年龄段的学习成绩较差的风险增加。

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引用次数: 0

Brivaracetam vs. Oxcarbazepine in childhood self-limited focal epilepsies (BRAVO-SeLFEs): A pilot randomized controlled trial 布瓦西坦与奥卡西平治疗儿童自限性局灶性癫痫（BRAVO-SeLFEs）：一项随机对照试验

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-01-01 Epub Date: 2025-11-09 DOI: 10.1016/j.seizure.2025.11.011

Fathima Fasin , Ankit Kumar Meena , Saurabh Agarwal , Lokesh Saini , Sujatha Manjunathan , Tanu Gupta , Rahul Gupta , Ashwini Chityala , Jagdish Prasad Goyal , Naresh Nebhinani , Kuldeep Singh

Purpose

To compare the efficacy, safety, and behavioral outcomes of brivaracetam with oxcarbazepine in children with self-limited focal epilepsies (SeLFEs).

Methods

This is an open-label pilot randomized controlled trial conducted at a tertiary referral center in India. 50 children aged 2–18 years with SeLFEs were enrolled. They were randomized (1:1) to receive either brivaracetam (intervention) or oxcarbazepine (control) for 6 months. The primary endpoint was seizure freedom at 6 months. The secondary end points included epilepsy severity assessment using the Early Childhood Epilepsy Severity Scale (E-Chess), behavioral evaluation with the Child Behavior Checklist (CBCL), and functional assessment via the Vineland Social Maturity Scale (VSMS). Safety outcomes and feasibility parameters were recorded.

Results

At 6 months, seizure freedom was similar in the intervention (92 %) and control (86 %) groups with similar median cumulative seizures (16 vs. 22, p = 0.37). Both groups showed within-group reductions in median E-Chess scores [baseline, 5 (IQR 5–7); at 6 months, 3 (IQR 3–3)] but no intergroup differences at 6 months. The group x time interaction was not significant (ß = 0.44, p = 0.26). The median VSMS scores were comparable in both control [95 (IQR 91.5–97) to 96 (IQR 93–97)] and intervention [96 (IQR 93.5–98) to 97 (IQR 95–99.5)] groups. No behavioral abnormalities were noted in any participant (CBCL, T < 60). One child in the oxcarbazepine group developed a skin rash requiring drug withdrawal; no adverse effects were reported in the brivaracetam group. The retention rate was high (96 %) with comparable safety and feasibility.

Conclusion

Brivaracetam and oxcarbazepine achieved similar rates of seizure freedom at 6 months without causing any clinically significant behavioral abnormalities in either group.

目的比较布瓦西坦与奥卡西平治疗儿童自限性局灶性癫痫的疗效、安全性和行为结局。方法：这是一项在印度三级转诊中心进行的开放标签试点随机对照试验，招募了50名2-18岁的自恋儿童。他们随机（1:1）接受布伐西坦（干预）或奥卡西平（对照）治疗6个月。主要终点是6个月时癫痫发作自由。次要终点包括使用早期儿童癫痫严重程度量表（E-Chess）进行癫痫严重程度评估，使用儿童行为检查表（CBCL）进行行为评估，以及通过Vineland社会成熟度量表（VSMS）进行功能评估。记录安全结果和可行性参数。结果6个月时，干预组（92%）和对照组（86%）的癫痫发作自由度相似，中位累积癫痫发作相似（16 vs. 22, p = 0.37）。两组均显示组内电子象棋分数中位数下降[基线，5 (IQR 5 - 7)；6个月时，3 (IQR 3 - 3)]，但6个月时各组间无差异。组x时间交互作用不显著（ß = 0.44, p = 0.26）。对照组[95 （IQR 91.5-97）至96 (IQR 93-97)]和干预组[96 （IQR 93.5-98）至97 (IQR 95 - 99.5)]的中位VSMS评分具有可比性。未发现任何参与者的行为异常（CBCL, T < 60）。奥卡西平组的一名儿童出现皮疹，需要停药；布瓦西坦组未见不良反应。保留率高（96%），安全性和可行性相当。结论布瓦西坦和奥卡西平在6个月时癫痫发作自由率相似，两组患者均未出现明显的临床行为异常。

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引用次数: 0

Shared and divergent neuromagnetic network signatures in childhood absence epilepsy and self-limited epilepsy with centrotemporal spikes 儿童期缺失性癫痫和自限性癫痫伴中央颞叶尖峰的共享和发散性神经磁网络特征

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-01-01 Epub Date: 2025-11-28 DOI: 10.1016/j.seizure.2025.11.020

Yingfan Wang , Minghao Li , Xu Huang , Peilin Jiang, Xinyi Zhou, Ke Hu, Xiaoshan Wang

Objectives

Childhood Absence Epilepsy (CAE) and Self-Limited Epilepsy with Centrotemporal Spikes (SeLECTS) are common, clinically associated syndromes, yet their shared and distinct pathophysiological mechanisms remain unclear. This study aimed to systematically compare interictal resting-state neuromagnetic networks among drug-naive children with CAE, SeLECTS, and healthy controls (HC) to identify common and syndrome-specific neurophysiological signatures.

Methods

We recruited 51 drug-naive CAE patients, 50 SeLECTS patients, and 30 age- and sex-matched HC. We analyzed 30-second epochs of interictal epileptiform discharge (IED)-free resting-state magnetoencephalography (MEG) data. Source-level spectral power and functional connectivity (corrected amplitude envelope correlation, AEC-c) were computed across six frequency bands (delta to high-gamma). Group differences were assessed using Network-Based Statistics (NBS) and cluster-based permutation test.

Results

Both epilepsy groups, compared to HCs, exhibited a shared pattern of pathological brain 'slowing': significantly increased low-frequency (delta) power and decreased high-frequency (alpha, beta, gamma) power. At the network level, this was mirrored by alpha-band hyperconnectivity and gamma-band hypoconnectivity. Crucially, syndrome-specific patterns emerged. CAE was characterized by global network dysregulation, with widespread delta/theta hyperconnectivity and a profound reduction in parieto-occipital alpha power. In contrast, SeLECTS displayed features of focal origin with widespread impact, including extreme low-to-mid frequency (delta-to-alpha) hyperconnectivity across distinct subnetworks and a widespread decrease in high-frequency (beta to gamma) power, most prominent in the temporal lobes.

Significance

This study provides the first direct neuromagnetic comparison of drug-naive CAE and SeLECTS. While a shared signature of pathological brain slowing suggests a common substrate of network instability, their distinct patterns of network dysfunction—global dysregulation in CAE versus focal-origin hyperconnectivity and widespread high-frequency power collapse in SeLECTS—elucidate divergent pathophysiological mechanisms. These syndrome-specific neuromagnetic features hold potential as non-invasive biomarkers for differential diagnosis and therapeutic monitoring.

儿童期缺失癫痫（CAE）和自限性癫痫伴中央颞叶尖峰（SeLECTS）是常见的临床相关综合征，但其共同和独特的病理生理机制尚不清楚。本研究旨在系统比较CAE、select和健康对照（HC）患儿间期静息状态神经磁网络，以识别常见和综合征特异性神经生理特征。方法我们招募51例无药CAE患者，50例select患者和30例年龄和性别匹配的HC患者。我们分析了无癫痫样放电（IED）间歇期30秒的静息状态脑磁图（MEG）数据。源级谱功率和功能连通性（校正振幅包络相关，AEC-c）在六个频段（delta到high-gamma）上进行计算。采用基于网络的统计（NBS）和基于聚类的排列检验评估组间差异。结果与hc相比，两组癫痫患者均表现出一种共同的病理性脑“减速”模式：低频（δ）功率显著增加，高频（α、β、γ）功率显著降低。在网络层面，这反映在α波段超连通性和γ波段低连通性上。至关重要的是，综合征特异性模式出现了。CAE的特征是全球网络失调，广泛的δ / θ超连通性和顶枕α功率的严重降低。相比之下，select表现出具有广泛影响的病灶起源特征，包括跨不同子网络的极低到中频（δ到α）超连通性和高频（β到γ）功率的广泛下降，在颞叶中最为突出。意义本研究首次提供了药物初始CAE和select的直接神经磁比较。虽然病理性脑减慢的共同特征表明了网络不稳定的共同基础，但它们不同的网络功能失调模式——CAE的全局失调与选择性的局灶性超连接和广泛的高频功率崩溃——阐明了不同的病理生理机制。这些综合征特异性的神经磁特征具有作为鉴别诊断和治疗监测的非侵入性生物标志物的潜力。

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引用次数: 0

The structure-function dissociation in mesial temporal lobe epilepsy with temporopolar blurring 中颞叶癫痫伴颞极模糊的结构-功能分离

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-01-01 Epub Date: 2025-11-04 DOI: 10.1016/j.seizure.2025.11.006

Yuming Li , Peiwen Liu , Qiuxing Lin , Wei Li , Yingying Zhang , Xiuli Li , Danyang Cao , Xiang Huang , Kailing Huang , Qiyong Gong , Dong Zhou , Dongmei An

Objectives

While ipsilateral temporopolar blurring (TPB) has been associated with white matter degeneration in temporal lobe epilepsy with hippocampal sclerosis (TLE-HS), its influence within the large-scale neural networks remains unclear. This study investigates the network-level topological alterations associated with TPB through multilayer network analysis.

Methods

This retrospective study investigated the impact of TPB on topological architecture of structural (SCN) and functional connectivity networks (FCN) in patients with TLE-HS using graph theory analysis. We further calculated the weighted multiplex participation coefficient (wMxP) to quantify the SCN-FCN interaction in a multiplex connectome.

Results

In total, 105 patients with TLE-HS (60 TPB+; 45 TPB-) and 61 healthy controls were enrolled. We found similar global network organization but altered nodal topological properties between TPB+ and TPB- in single-layer analysis, predominantly across the default mode network, visual network, and subcortical ROIs. Additionally, TPB+ showed decreased average wMxP (t(df=97) = -2.265, p < 2.2e-16) and lower nodal wMxP in default mode network and ipsilateral thalamus (t(df=97)=-2.404, p_fwer=0.0408) than those in TPB-.

Conclusions

We demonstrate that disrupted topological architecture associated with TPB in TLE-HS were primarily and locally distributed in brain regions with rich connections to the temporal pole. The dissociation between SN and FN may indicate compensatory functional adjustments in TLE.

虽然同侧颞极模糊（TPB）与颞叶癫痫合并海马硬化（TLE-HS）的白质变性有关，但其在大规模神经网络中的影响尚不清楚。本研究通过多层网络分析探讨了与TPB相关的网络级拓扑变化。方法回顾性研究TPB对TLE-HS患者结构（SCN）和功能连接网络（FCN）拓扑结构的影响。我们进一步计算加权多路参与系数（wMxP）来量化多路连接组中SCN-FCN的相互作用。结果共纳入105例TLE-HS患者（TPB+ 60例，TPB- 45例）和61例健康对照。在单层分析中，我们发现TPB+和TPB-之间的全局网络组织相似，但节点拓扑特性发生了变化，主要分布在默认模式网络、视觉网络和皮层下roi中。与TPB-相比，TPB+组平均wMxP降低（t(df=97)=- 2.265, p < 2.2e-16），默认模式网络和同侧丘脑节点wMxP降低（t(df=97)=-2.404, pfwer=0.0408）。结论与TPB相关的拓扑结构紊乱主要和局部分布于与颞极有丰富连接的脑区。SN和FN之间的分离可能表明TLE的代偿功能调节。

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引用次数: 0

Association between electrographic seizures and better neurological functional outcomes in non-convulsive status epilepticus 非惊厥性癫痫持续状态的电痉挛发作与更好的神经功能结局之间的关系。

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-01-01 Epub Date: 2025-12-26 DOI: 10.1016/j.seizure.2025.12.014

Kazuma Koda , Masaya Togo , Kohei Morimoto , Kento Matoba , Mayumi Otani , Yasufumi Kageyama , Riki Matsumoto

Objective

In non-convulsive status epilepticus (NCSE), predicting patient outcomes is crucial in deciding treatment intensity. However, electroencephalograms (EEGs) of NCSE show various patterns, and their relationship with functional outcomes remains unclear. We aimed to examine the relationship between NCSE EEG patterns and functional outcomes.

Methods

We retrospectively collected data from 105 NCSE patients without cardiopulmonary arrest at two centers and compared functional outcomes in NCSE patients with electrographic seizures (ESz) and those with rhythmic/periodic patterns (RPPs) at discharge. Functional outcomes were assessed using the dichotomized modified Rankin scale (≥4 or less), with univariate and multivariate analyses conducted on patient backgrounds and therapeutic interventions. We compared background activities and discharge waveforms in periodic discharges (PDs) using the Fourier transform.

Results

ESz independently predicted better outcomes after adjusting for severity (Glasgow Coma Scale and Epidemiology-based Mortality Score). In PDs, the group with better outcomes exhibited larger alpha-band background activity and larger post-discharge slow waves.

Conclusions

NCSE with ESz was associated with better functional outcomes than RPPs alone. Spared alpha-band background activity and larger amplitude of post-discharge slow shifts may indicate spared brain function in patients with PDs.

Significance

These results could assist in predicting outcomes and deciding treatment intensity in NCSE.

目的：在非惊厥性癫痫持续状态（NCSE）中，预测患者预后是决定治疗强度的关键。然而，脑电图（eeg）显示出不同的模式，它们与功能结局的关系尚不清楚。我们的目的是研究NCSE脑电图模式与功能预后之间的关系。方法：我们回顾性收集了两个中心105例无心肺骤停的NCSE患者的资料，并比较了出院时出现电痉挛（ESz）的NCSE患者和出现节律性/周期性发作（RPPs）的NCSE患者的功能结局。功能结局采用二分类改良Rankin量表（≥4）进行评估，并对患者背景和治疗干预进行单因素和多因素分析。我们使用傅里叶变换比较了周期性放电（pd）的背景活动和放电波形。结果：在调整严重程度（格拉斯哥昏迷量表和基于流行病学的死亡率评分）后，ESz独立预测了更好的结果。在pd中，预后较好的组表现出更大的α波段背景活动和更大的放电后慢波。结论：与单纯RPPs相比，NCSE合并ESz的功能预后更好。备用α带背景活动和较大的放电后慢移幅度可能表明pd患者有备用脑功能。意义：这些结果有助于预测NCSE的预后和决定治疗强度。

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引用次数: 0

Tocilizumab for super-refractory status epilepticus in children with FIRES: A case series 托珠单抗治疗儿童FIRES的超难治性癫痫持续状态：一个病例系列。

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-01-01 Epub Date: 2025-11-28 DOI: 10.1016/j.seizure.2025.11.019

Sumitha Murugesu, Ahmad Rithauddin Mohamed, Husna Binti Musa, Jun Xiong Lee, Muhamad Azamin Anuar, Teik Beng Khoo

Purpose

Febrile infection-related epilepsy syndrome (FIRES) is a catastrophic epileptic encephalopathy that can occur at any age, with limited treatment options. Conventional immunotherapies often show poor efficacy. We evaluated the effectiveness and safety of the interleukin-6 receptor blocker, tocilizumab, in children with FIRES.

Methods

We retrospectively reviewed medical records, electroencephalography, and neuroimaging of seven children with FIRES treated at our center between 2018 and 2022. Outcomes included cessation of super-refractory status epilepticus (SRSE), seizure burden, and functional outcome using the Pediatric Cerebral Performance Category (PCPC) scale.

Results

Seven previously healthy children (median age 9 years; range 2–13) developed SRSE following febrile illness. Extensive investigations, including cerebrospinal fluid studies, viral panels, and autoimmune testing were negative, consistent with cryptogenic FIRES. Initial MRI was normal in six children; one showed symmetrical T2/FLAIR hyperintensities involving deep grey matter structures. All patients received a multimodal therapeutic strategy including intravenous midazolam, high-dose phenobarbitone, ketogenic diet, therapeutic hypothermia, and/or immunotherapy—prior to tocilizumab. Intravenous tocilizumab was initiated at a median of 17 days from illness onset (range 6–46). SRSE resolved within a median of 5 days (range 2–12) after administration. At 6-month follow-up, six of seven patients developed chronic epilepsy, characterised by weekly to monthly seizures, while one remained seizure free. Functional recovery was noted in four patients, each achieving a Pediatric Cerebral Performance Category (PCPC) score of ≤2. Adverse events included grade 2 leukopenia or diarrhoea (n = 3) and grade 4 sepsis (n = 1); all resolved with treatment. No deaths occurred.

Conclusion

Tocilizumab was associated with rapid resolution of SRSE, seizure reduction, and functional recovery in children with FIRES, with manageable side effects. While causality cannot be confirmed given concurrent therapies and variable timing of administration, these findings support consideration of interleukin-6 blockade as a potential adjunctive treatment in FIRES.

目的：发热性感染相关癫痫综合征（FIRES）是一种灾难性的癫痫性脑病，可发生在任何年龄，治疗方案有限。常规免疫疗法往往疗效不佳。我们评估了白细胞介素-6受体阻滞剂tocilizumab在儿童fire中的有效性和安全性。方法：回顾性分析2018年至2022年期间在本中心治疗的7名儿童的病历、脑电图和神经影像学。结果包括停止超难治性癫痫持续状态（SRSE）、癫痫发作负担和使用儿科脑功能分类（PCPC）量表的功能结果。结果：7名先前健康的儿童（中位年龄9岁，范围2-13岁）在发热性疾病后发展为SRSE。广泛的调查，包括脑脊液研究、病毒检测和自身免疫检测均为阴性，与隐源性FIRES一致。6例患儿初始MRI正常；1例显示对称的T2/FLAIR高信号，涉及深部灰质结构。所有患者在使用托珠单抗之前接受了多模式治疗策略，包括静脉注射咪达唑仑、大剂量苯巴比妥、生酮饮食、治疗性低温和/或免疫治疗。静脉注射tocilizumab开始于发病后中位17天（范围6-46天）。SRSE在给药后5天（范围2-12天）内消失。在6个月的随访中，7名患者中有6名发展为慢性癫痫，其特征是每周到每月发作一次，而1名患者仍然没有发作。4例患者功能恢复，每例均达到儿科脑功能分类（PCPC）评分≤2。不良事件包括2级白细胞减少或腹泻（n = 3）和4级败血症（n = 1）；经过治疗，一切都解决了。没有人员死亡。结论：Tocilizumab可快速缓解儿童的SRSE，减少癫痫发作和功能恢复，副作用可控。虽然由于同时治疗和给药时间的变化，不能确认因果关系，但这些发现支持考虑白细胞介素-6阻断作为FIRES的潜在辅助治疗。

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引用次数: 0

Sex differences in the clinical characteristics of South African patients with functional seizures in a public and a private hospital 南非公立和私立医院功能性癫痫患者临床特征的性别差异

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-01-01 Epub Date: 2025-12-14 DOI: 10.1016/j.seizure.2025.12.007

Gabriele Vilyte , James Butler , Victoria Ives-Deliperi , Chrisma Pretorius

Introduction

Functional seizures (FS) are approximately three times more common in females than in males. However, the factors associated with this gender imbalance are not well understood.

Methods

This retrospective chart review study included 372 patients with FS (305 from a private and 67 from a public hospital) confirmed through video-electroencephalography (video-EEG) and without comorbid epilepsy. We collected data on psychological trauma, stressors, comorbidities, medical procedure history, medication use, and seizure semiology to identify clinical factors associated with female sex in this patient cohort. The study was conducted in a private and a public hospital epilepsy monitoring units (EMUs) based in Cape Town, South Africa.

Results

In the private hospital, female patients with FS had higher odds of reporting a history of sexual abuse (aOR = 9.58, 95 % CI [1.28, 72.02]) and lower odds of loss of consciousness during a seizure (aOR = 0.46, 95 % CI [0.23, 0.91]) compared to male patients. Female public hospital patients had higher odds of reporting a history of any psychological trauma/stressor (aOR = 3.64, 95 % CI [1.11, 11.88]), side-to-side head movements during seizures (aOR = 6.37, 95 % CI [1.16, 34.98]) and lower odds of reporting a history of at least one failed ASM trial (aOR = 0.27, 95 % CI [0.08, 0.88]).

Conclusion

This study, the first of its kind in South Africa, found that while male and female patients with FS shared broadly similar clinical profiles, differences in trauma exposure, antiseizure medication history, and semiology varied by sex and socioeconomic context. These findings underscore the importance of heightened clinical awareness regarding the influence of sex and social determinants on symptom presentation and diagnostic interpretation, thereby reducing diagnostic delays and ensuring more equitable FS management.

简介：功能性癫痫发作（FS）在女性中大约是男性的三倍。然而，与这种性别不平衡有关的因素还没有得到很好的理解。方法：本回顾性研究纳入372例经视频脑电图（video-EEG）确诊且无癫痫共病的FS患者（305例来自私立医院，67例来自公立医院）。我们收集了心理创伤、压力源、合并症、医疗程序史、药物使用和癫痫符号学方面的数据，以确定该患者队列中与女性相关的临床因素。这项研究是在南非开普敦的一家私立和一家公立医院癫痫监测单位（emu）进行的。结果：在私立医院，女性FS患者报告性侵犯史的几率高于男性患者（aOR = 9.58, 95% CI[1.28, 72.02]），发作时意识丧失的几率低于男性患者（aOR = 0.46, 95% CI[0.23, 0.91]）。公立医院女性患者报告有任何心理创伤/压力源史的几率较高（aOR = 3.64, 95% CI[1.11, 11.88]），癫痫发作时左右头部运动的几率较高（aOR = 6.37, 95% CI[1.16, 34.98]），报告至少一次ASM试验失败史的几率较低（aOR = 0.27, 95% CI[0.08, 0.88]）。结论：这项在南非首次进行的研究发现，虽然男性和女性FS患者的临床概况大致相似，但在创伤暴露、抗癫痫药物史和符号学方面的差异因性别和社会经济背景而异。这些发现强调了提高临床意识的重要性，即性别和社会决定因素对症状表现和诊断解释的影响，从而减少诊断延误并确保更公平的FS管理。

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引用次数: 0

Optimal cutoff score for diagnosing generalized anxiety disorder with the Generalized Anxiety Disorder 7-item scale in people living with epilepsy: A systematic review with diagnostic test accuracy meta-analysis 癫痫患者用广泛性焦虑障碍7项量表诊断广泛性焦虑障碍的最佳临界值：一项带有诊断测试准确性荟萃分析的系统评价。

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-01-01 Epub Date: 2025-12-13 DOI: 10.1016/j.seizure.2025.12.008

Minjung Kim , Rock Bum Kim , Tae-Won Yang , Young-Soo Kim , Do-Hyung Kim , Oh-Young Kwon

Background and Purpose

The Generalized Anxiety Disorder 7-item (GAD-7) is a self-report questionnaire assessing anxiety-related symptoms experienced over the past two weeks. The GAD-7 is widely used to screen for generalized anxiety disorder (GAD), and reported optimal cutoff scores for detecting GAD in people living with epilepsy (PLWE) range between >6 and >9. This meta-analysis aims to determine the most appropriate GAD-7 cutoff score for PLWE.

Methods

We identified relevant studies through comprehensive searches in MEDLINE, Embase, Cochrane Library, Web of Science, and Scopus. Studies included original research examining GAD-7 accuracy for detecting GAD in adult PLWE, using structured diagnostic interviews including the Mini International Neuropsychiatric Interview as a reference standard. Only studies providing sufficient data for meta-analysis were included, including the number of PLWE with GAD, the total participant number, sensitivity, and specificity. We performed summary receiver operating characteristic curve analyses.

Results

Seven studies conducted in outpatient epilepsy clinics were included. The area under the curve (AUC) ranged between 0.91 and 0.96 across cutoff scores from >5 to >9. The cutoff score of >6 provided the best balance of diagnostic accuracy, with an AUC of 0.96, sensitivity of 0.95, and specificity of 0.83.

Conclusions

The GAD-7 cutoff score of >6 has optimal diagnostic performance for screening GAD in PLWE. These results offer valuable guidance for clinicians and researchers applying the GAD-7 questionnaire to detect GAD among PLWE, especially in geographic areas without previously validated language-specific versions.

背景和目的：广泛性焦虑障碍7项（GAD-7）是一份评估过去两周内经历的焦虑相关症状的自我报告问卷。GAD-7被广泛用于筛查广泛性焦虑障碍（GAD），据报道，在癫痫患者（PLWE）中检测广泛性焦虑症的最佳临界值在bbbb6和bbbb9之间。本荟萃分析旨在确定PLWE最合适的GAD-7截止评分。方法：通过MEDLINE、Embase、Cochrane Library、Web of Science、Scopus等数据库进行综合检索，确定相关研究。研究包括检验GAD-7在成人PLWE中检测GAD准确性的原始研究，使用结构化诊断访谈，包括迷你国际神经精神病学访谈作为参考标准。仅纳入提供足够数据进行meta分析的研究，包括伴有广泛性焦虑症的PLWE数量、总参与人数、敏感性和特异性。我们进行了汇总的受试者工作特征曲线分析。结果：纳入在癫痫门诊进行的7项研究。曲线下面积（AUC）在>5至>9的截止分数范围内为0.91至0.96。截断评分>.6提供了诊断准确性的最佳平衡，AUC为0.96，敏感性为0.95，特异性为0.83。结论：GAD-7截止评分bbbb6对PLWE患者GAD的诊断效果最佳。这些结果为临床医生和研究人员应用GAD-7问卷来检测PLWE中的GAD提供了有价值的指导，特别是在以前没有经过验证的语言特定版本的地理区域。

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引用次数: 0

Minimally invasive ictal EEG source localization including sphenoidal electrodes – a retrospective study and a meta-analysis 微创脑电图源定位包括蝶窦电极-回顾性研究和荟萃分析。

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2026-01-01 Epub Date: 2025-11-05 DOI: 10.1016/j.seizure.2025.11.005

Kara Goetz , Jakob I. Doerrfuss , Martin Holtkamp , Bernd J. Vorderwülbecke

Background: In patients with pharmacoresistant temporal lobe epilepsy, minimally invasive sphenoidal electrodes can enhance presurgical video-EEG monitoring. Placed into the infratemporal fossa, these electrodes record EEG activity from the mesial temporal lobe. We hypothesized that inclusion of the signal from sphenoidal electrodes would improve the diagnostic sensitivity of ictal EEG source localization (ESL).

Methods: We retrospectively included patients with pharmacoresistant focal epilepsy, presurgical low-density EEG including bilateral sphenoidal electrodes, subsequent resective surgery and favorable 1-year seizure outcome (ILAE class 1-2). Per seizure, ESL was conducted separately with vs. without signals from sphenoidal electrodes. Source maxima were compared to the resected zone. For comparison with the literature, we added a univariate random-effects meta-analysis of previous ictal ESL studies.

Results: ESL was applied to 184 seizures of 42 patients (39 with anterior temporal lobe epilepsy). At seizure level, ESL with vs. without sphenoidal electrodes achieved diagnostic sensitivities of 68 % (95 %-CI: 61–75 %) vs. 46 % (39–53 %; p < 0.001). Patient-level diagnostic sensitivity was 50 % (35–65 %) vs. 19 % (7–31 %; p = 0.002). The meta-analysis of ten studies on 233 patients resulted in a patient-level summary sensitivity of 68 % (44–84 %) albeit with substantial heterogeneity (I²=0.689).

Conclusions: As a proof of principle, sphenoidal electrodes significantly improved the diagnostic sensitivity of ictal ESL in absence of subtemporal scalp electrodes. Previous studies on ictal ESL yielded substantially heterogenous results, depending on their specific methodology. In presurgical epilepsy cases evaluated with both sphenoidal electrodes and ictal ESL, both techniques should be combined as presented here.

背景：在耐药颞叶癫痫患者中，微创蝶窦电极可以增强术前视频-脑电图监测。这些电极被放置在颞下窝，记录来自颞叶内侧的脑电图活动。我们假设包含蝶窦电极的信号可以提高颅电源定位（ESL）的诊断灵敏度。方法：我们回顾性地纳入了顽抗局灶性癫痫患者，术前低密度脑电图包括双侧蝶窦电极，随后切除手术和良好的1年癫痫发作结果（ILAE 1-2级）。每次癫痫发作，ESL分别进行，有蝶窦电极信号和没有蝶窦电极信号。将源最大值与切除区域进行比较。为了与文献进行比较，我们对之前的关键ESL研究进行了单变量随机效应荟萃分析。结果：应用ESL治疗42例癫痫发作184次，其中颞叶前癫痫39例。在癫痫发作水平，使用与不使用蝶骨电极的ESL的诊断敏感性分别为68% （95% -CI: 61- 75%）和46% （39- 53%;p < 0.001）。患者水平的诊断敏感性为50% (35- 65%)vs. 19% （7- 31%; p = 0.002）。对233例患者进行的10项研究的荟萃分析结果显示，患者水平的总敏感性为68%(44- 84%)，尽管存在很大的异质性（I2=0.689）。结论：作为一个原理证明，蝶窦电极在没有颞下头皮电极的情况下显著提高了急性ESL的诊断敏感性。先前关于临界ESL的研究根据其具体的研究方法，得出了大量不同的结果。在术前癫痫患者同时使用蝶窦电极和临界ESL进行评估时，这两种技术应结合使用。

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引用次数: 0