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Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort study Renu综合征的癫痫表型:来自欧洲多中心回顾性队列研究的新见解
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-17 DOI: 10.1016/j.seizure.2026.01.010
Mario Mastrangelo , Manuela Tolve , Irene Valenzuela , Giuliana Lentini , Elisa Maria Colacino Cinnante , Barbara Masotto , Stefano D’ Arrigo , Paola Francesca Ajmone , Jessica Rosenblum , Donatella Milani , Agusti Rodriguez-Palmero , Claudia Ciaccio , Anna C. Jansen , Francesco Pisani

Background

Epilepsy is a prominent feature in about 60% of patients with ReNU syndrome

Patients and methods

Data including demographics, gene variants, seizure semiology and evolution, EEG patterns, neurodevelopmental features, MRI characteristics and response to antiseizure medications were retrospectively collected in a cohort of patients with ReNU syndrome referred to 6 European tertiary centres.

Results

The cohort included 10 patients (7 males and 3 females). The mean age at epilepsy onset was 2.8 ±2.1 years. No specific epilepsy syndromes were recognized. Focal impaired consciousness with observable manifestations (with onset before 12 months in 3 cases) were the predominant seizure type across all age ranges. The frequency of this seizure type peaked between the ages of 6 and 11 years. Generalized seizures were less common and mainly occurred under the age of 6 with a similar frequency of atypical absences and tonic/tonic clonic seizures. Interictal and ictal epileptiform EEG were more frequently detected after 3 years of age and were mainly focal (with predominant involvement of the fronto-parietal regions). No structural epileptogenic lesions were detected on MRI. Seizure freedom was achieved with antiseizure medications in 5 patients at a mean age of 7.2 ± 25.2. Valproate was judged the most effective medication by referring neurologists followed by levetiracetam, clobazam, lamotrigine and phenytoin. No relevant genotype-phenotype correlations were observed.

Conclusions

The phenotype of the seizure disorders observed in this cohort was dominated by focal impaired consciousness seizures with observable manifestations and a relatively favourable course of epilepsy.
背景:癫痫是约60%的ReNU综合征患者的一个突出特征。患者和方法回顾性收集了6个欧洲三级中心的ReNU综合征患者队列的人口统计学、基因变异、癫痫符号学和进化、脑电图模式、神经发育特征、MRI特征和抗癫痫药物反应等数据。结果共纳入10例患者,其中男7例,女3例。癫痫发作的平均年龄为2.8±2.1岁。未发现特定的癫痫综合征。有明显表现的局灶性意识受损(3例在12个月前发病)是所有年龄段的主要癫痫类型。这种癫痫发作的频率在6岁到11岁之间达到高峰。全身性癫痫发作较少见,主要发生在6岁以下,非典型缺席和强直/强直阵挛发作的频率相似。发作期和发作期癫痫样脑电图多见于3岁以后,且主要为局灶性脑电图(主要累及额顶叶区)。MRI未见结构性癫痫病变。5例患者通过抗癫痫药物治疗获得癫痫发作自由,平均年龄为7.2±25.2岁。以丙戊酸钠最为有效,其次为左乙拉西坦、氯巴赞、拉莫三嗪和苯妥英。未观察到相关的基因型-表型相关性。结论本队列中观察到的癫痫疾病表型以局灶性意识障碍发作为主,具有明显的症状和相对有利的癫痫病程。
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引用次数: 0
Automatic recognition of epileptic spasm via large-scale visual AI model. 基于大规模视觉AI模型的癫痫发作自动识别。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-17 DOI: 10.1016/j.seizure.2026.01.009
Jialu Xu, Chenyu Yan, Xiaoyan Shen, Tiejia Jiang, Wencong Ruan, Haifeng Li, Ning Ma

Purpose: To develop effective visual AI recognition models for epileptic spasm (ES), and to promote the professionalism and convenience of ES detection.

Method: We collected about 330 hours of infant motion videos with epileptic spasm in Children's Hospital, Zhejiang University School of Medicine from November 2022 to October 2024. A video-centered AI model was constructed, with a pre-trained Vision Transformer (ViT) via Contrastive Language-Image Pre-training (CLIP), serving as the core to extract spatial features. Additionally, a temporal convolution module was integrated to extract temporal information and a multi-layer perceptron was used to perform a normal-abnormal binary classification task. Focal loss was applied to mitigate class imbalance, prioritizing the learning of hard-to-classify samples. The model was trained for 100 epochs with 5-times random dataset splitting, in which the dataset was partitioned by individual infants to ensure disjoint training and test sets. Model performance was validated using metrics (including Precision, Recall, F-score, Accuracy, AUROC) based on test set results.

Results: The median age of ES onset was 0.4 (0.3, 0.7) years. All patients exhibited isolated or clustered epileptic spasms. By employing a CLIP-based classifier, the system reached a recall rate of 1.00 ± 0.00, a precision of 0.78 ± 0.01, an F-score of 0.87 ± 0.01, an accuracy of 0.98 ± 0.01, and an AUROC of 0.99 ± 0.01 in detecting epileptic spasm - outperforming previously reported methods. Case studies involving four infants' motion videos showed a high degree of consistency between the model's predictions and expert annotations. The model effectively distinguished ES episodes from normal patterns, even in videos with multiple intermittent ES segments.

Conclusion: We developed an automatic motion recognition model that holds significant potential in early automated detection of ES.

目的:建立有效的癫痫性痉挛视觉人工智能识别模型,提高癫痫性痉挛检测的专业性和便捷性。方法:收集浙江大学医学院附属儿童医院于2022年11月至2024年10月收治的癫痫性痉挛患儿运动视频约330小时。构建以视频为中心的人工智能模型,以对比语言图像预训练(CLIP)预训练的视觉变换(ViT)为核心提取空间特征。此外,还集成了时间卷积模块来提取时间信息,并使用多层感知器来执行正常-异常二值分类任务。应用焦点损失来缓解类不平衡,优先学习难以分类的样本。采用5次随机数据分割的方法对模型进行100次epoch的训练,其中数据集由单个婴儿进行分割,以保证训练集和测试集不相交。使用基于测试集结果的指标(包括Precision, Recall, F-score, Accuracy, AUROC)验证模型性能。结果:ES发病的中位年龄为0.4(0.3,0.7)岁。所有患者均表现出孤立或聚集性癫痫痉挛。采用基于clip的分类器,系统检测癫痫痉挛的召回率为1.00±0.00,精密度为0.78±0.01,f值为0.87±0.01,准确率为0.98±0.01,AUROC为0.99±0.01,优于已有报道的方法。涉及四个婴儿运动视频的案例研究表明,该模型的预测与专家注释之间高度一致。该模型有效地将ES片段与正常模式区分开来,即使在具有多个间歇性ES片段的视频中也是如此。结论:我们开发的自动运动识别模型在ES的早期自动检测中具有重要的潜力。
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引用次数: 0
An e-Delphi approach to develop a patient-reported outcome measure to assess functional/dissociative seizures severity e-Delphi方法开发患者报告的结果测量来评估功能性/解离性癫痫发作的严重程度。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-15 DOI: 10.1016/j.seizure.2025.12.015
Gregg Harry Rawlings , Laura Whitaker , Chris Gaskell , Markus Reuber

Objectives

Functional / dissociative seizures (FDS) are a debilitating condition for which there are no validated, reliable, or co-produced condition-specific severity measures. Such a measure would be of value for clinical and research applications. Here, we conduct a three-round electronic-Delphi survey with the aim of achieving consensus on questions that could be used to assess FDS severity as part of a patient reported outcome measure.

Methods

e-Delphi members consisted of individuals living with FND, professional experts in the condition (e.g., healthcare providers, researchers), and nonprofessional caregivers. Participants were recruited via international organisations linked with FND. The purpose and tasks of each round were iteratively developed and based on participants’ responses to the previous round.

Results

In total, 90 people participated in round one (54 individuals with FDS, 32 professionals and 4 nonprofessional cares). This reduced to 67 and 55 in rounds two and three, respectively. Overall, 136 candidate items proposed by the current authors or participants were initially considered for inclusion. The final measure consisted of three sections with 29 items assessing severity of FDS, six exploring frequency and duration of seizures, and a checklist of symptoms commonly associated with FDS. 90% of those in round three were “happy” with the proposed measure.

Conclusions

Notwithstanding the challenges of operationalising severity and the inter- and intra-individual variability of the condition, consensus on items to include was achieved by experts by experience or training. Future scale development will evaluate the proposed measure prior to its implementation in clinical and research practice.
目的:功能性/解离性癫痫发作(FDS)是一种衰弱性疾病,没有经过验证的、可靠的或共同产生的疾病特定的严重程度措施。这种测量方法对临床和研究应用具有一定的价值。在这里,我们进行了三轮电子德尔菲调查,目的是就可用于评估FDS严重程度的问题达成共识,作为患者报告结果测量的一部分。方法:e-Delphi成员包括患有FND的个体、该疾病的专业专家(如医疗保健提供者、研究人员)和非专业护理人员。参与者是通过与FND有联系的国际组织招募的。每一轮的目的和任务都是根据参与者对前一轮的反应迭代开发的。结果:共有90人参加了第一轮(54名FDS患者,32名专业护理人员和4名非专业护理人员)。第二轮和第三轮分别减少到67和55。总的来说,目前的作者或参与者提出的136个候选项目最初被考虑纳入。最后的测量包括三个部分,29个项目评估FDS的严重程度,6个项目探索癫痫发作的频率和持续时间,以及一个与FDS相关的症状清单。在第三轮投票中,90%的人对提议的措施表示“满意”。结论:尽管存在操作的严重度以及个体间和个体内部条件的可变性方面的挑战,专家通过经验或培训达成了关于纳入项目的共识。未来的规模开发将在其在临床和研究实践中实施之前评估所提议的措施。
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引用次数: 0
Evolution into spike-and-wave activation in sleep in patients with self-limited focal epilepsies 自限性局灶性癫痫患者睡眠中向峰波激活的演变
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-08 DOI: 10.1016/j.seizure.2026.01.006
Merve İriş, Miray Atacan Yaşgüçlükal, Cengiz Yalçınkaya, Veysi Demirbilek

Purposes

Self-limited focal epilepsies of childhood (SeLFE), while predominantly considered benign, are known to potentially manifest with spike-and-wave activation in sleep (SWAS) in a minority of patients

Methods

The medical records of individuals diagnosed with one of the SeLFE syndromes according to the ILAE 2022 diagnostic criteria, who were followed in our center between 1989–2023, were retrospectively analyzed. At least two awake and sleep EEGs were performed during a minimum 2-year follow-up. SWAS is considered as spike and wave discharges occupying ≥50% of NREM sleep with symmetrical or mildly asymmetrical bilateral or unilateral hemispheric distribution.

Results

Among 144 patients with SeLFE, 57(39.6%) were diagnosed with self-limited epilepsy with centrotemporal spikes (SeLECTS); 65(45.1%) with self-limited epilepsy with autonomic seizures (SeLEAS); and 22 (15.3%) with childhood occipital visual epilepsy (COVE). The mean age of seizure onset was 7.6, 5.6, and 8.5 years, respectively. Twelve (8.3%) evolved into SWAS (5 from SeLECTS, 6 from SeLEAS, 1 from COVE). Time elapsed between onset of first seizure and evolution into SWAS ranged from 5.2 to 75 months (mean: 26.8±19.8), 6.2–42.8 months (mean: 20.1±14.7 for patients with SeLECTS; 5.2–75.0 months (mean: 32.7±24.5) with SeLEAS, and 25.0 months with COVE). All except two patients had also cognitive or behavioral regression and were diagnosed as epileptic encephalopathy with spike-wave activation in sleep(EE-SWAS) and one patient was diagnosed with Landau–Kleffner syndrome.

Conclusions

The most recent definition of ILAE highlights that SeLFEs are no longer recognized as “benign” epilepsies. Even with a low incidence rate, clinicians should always be cautious about the risk of SWAS development in these syndromes.
目的儿童自限性局灶性癫痫(SeLFE),虽然主要被认为是良性的,但已知在少数患者中可能表现为睡眠中的峰波激活(SWAS)。方法回顾性分析1989-2023年间在本中心随访的根据ILAE 2022诊断标准诊断为其中一种SeLFE综合征的个体的病历。在至少2年的随访期间,至少进行了两次清醒和睡眠脑电图检查。SWAS被认为是峰值和波放电占据NREM睡眠的50%以上,具有对称或轻度不对称的双侧或单侧半球分布。结果144例SeLFE患者中,57例(39.6%)诊断为伴中央颞叶尖峰(SeLECTS)的自限性癫痫;自限性癫痫伴自主神经发作(SeLEAS) 65例(45.1%);儿童枕部视觉癫痫22例(15.3%)。癫痫发作的平均年龄分别为7.6岁、5.6岁和8.5岁。12例(8.3%)进化为SWAS(5例来自SeLECTS, 6例来自SeLEAS, 1例来自COVE)。从首次发作到发展为SWAS的时间范围为5.2至75个月(平均:26.8±19.8),选择组为6.2至42.8个月(平均:20.1±14.7),SeLEAS组为5.2至75.0个月(平均:32.7±24.5),COVE组为25.0个月)。除2例患者外,其余患者均有认知或行为倒退,并被诊断为癫痫性脑病伴睡眠尖波激活(EE-SWAS), 1例患者被诊断为Landau-Kleffner综合征。ILAE的最新定义强调,self不再被认为是“良性”癫痫。即使发病率较低,临床医生也应始终警惕SWAS在这些综合征中发展的风险。
{"title":"Evolution into spike-and-wave activation in sleep in patients with self-limited focal epilepsies","authors":"Merve İriş,&nbsp;Miray Atacan Yaşgüçlükal,&nbsp;Cengiz Yalçınkaya,&nbsp;Veysi Demirbilek","doi":"10.1016/j.seizure.2026.01.006","DOIUrl":"10.1016/j.seizure.2026.01.006","url":null,"abstract":"<div><h3>Purposes</h3><div>Self-limited focal epilepsies of childhood (SeLFE), while predominantly considered benign, are known to potentially manifest with spike-and-wave activation in sleep (SWAS) in a minority of patients</div></div><div><h3>Methods</h3><div>The medical records of individuals diagnosed with one of the SeLFE syndromes according to the ILAE 2022 diagnostic criteria, who were followed in our center between 1989–2023, were retrospectively analyzed. At least two awake and sleep EEGs were performed during a minimum 2-year follow-up. SWAS is considered as spike and wave discharges occupying ≥50% of NREM sleep with symmetrical or mildly asymmetrical bilateral or unilateral hemispheric distribution.</div></div><div><h3>Results</h3><div>Among 144 patients with SeLFE, 57(39.6%) were diagnosed with self-limited epilepsy with centrotemporal spikes (SeLECTS); 65(45.1%) with self-limited epilepsy with autonomic seizures (SeLEAS); and 22 (15.3%) with childhood occipital visual epilepsy (COVE). The mean age of seizure onset was 7.6, 5.6, and 8.5 years, respectively. Twelve (8.3%) evolved into SWAS (5 from SeLECTS, 6 from SeLEAS, 1 from COVE). Time elapsed between onset of first seizure and evolution into SWAS ranged from 5.2 to 75 months (mean: 26.8±19.8), 6.2–42.8 months (mean: 20.1±14.7 for patients with SeLECTS; 5.2–75.0 months (mean: 32.7±24.5) with SeLEAS, and 25.0 months with COVE). All except two patients had also cognitive or behavioral regression and were diagnosed as epileptic encephalopathy with spike-wave activation in sleep(EE-SWAS) and one patient was diagnosed with Landau–Kleffner syndrome.</div></div><div><h3>Conclusions</h3><div>The most recent definition of ILAE highlights that SeLFEs are no longer recognized as “benign” epilepsies. Even with a low incidence rate, clinicians should always be cautious about the risk of SWAS development in these syndromes.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"135 ","pages":"Pages 34-38"},"PeriodicalIF":2.8,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146023818","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
Superior localizing and prognostic value of statistical parametric SPECT analysis in temporal lobe epilepsy: A comparative study of ISAS and SISCOM 统计参数SPECT分析在颞叶癫痫中的优越定位和预后价值:ISAS和SISCOM的比较研究
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-07 DOI: 10.1016/j.seizure.2026.01.001
Jeongsik Kim , Seung Hwan Moon , Hea Ree Park , Eun Yeon Joo , Dae-Won Seo , Young-Min Shon

Purpose

This study aimed to compare the localizing accuracy, interobserver reliability, and prognostic value of ictal SPECT analyzed by Statistical Parametric Mapping (ISAS) versus Subtraction Ictal SPECT Co-registered to MRI (SISCOM) in patients with drug-resistant temporal lobe epilepsy (TLE).

Methods

Sixty consecutive TLE patients who underwent resective epilepsy surgery were analyzed. All ictal SPECT studies were processed by ISAS and SISCOM. Two blinded reviewers independently identified the most prominent hyperperfusion regions across 40 predefined brain subregions. Localization concordance with the actual resection site was scored at both lobar and sublobar levels. Interobserver agreement and the correlation between imaging localization and postsurgical seizure outcomes were analyzed.

Results

ISAS achieved significantly higher interobserver agreement than SISCOM for the localization (κ = 0.34–0.88 vs. 0.14–0.69). ISAS concordance with surgical resection was 88.7% at the lobar level and 79.7% at the sublobar level, compared to 71.7% and 60.9% for SISCOM, respectively. Logistic regression revealed that only ISAS localization at both scales significantly predicted seizure-free outcome, whereas SISCOM did not.

Conclusions

ISAS outperforms SISCOM in both localizing accuracy and observer reliability, and its concordance with surgical resection robustly predicts postoperative seizure freedom. These findings support the adoption of ISAS as the first-line SPECT postprocessing technique for presurgical evaluation of TLE.
目的:本研究旨在比较统计参数映射(ISAS)与减相颅面SPECT (SISCOM)在耐药颞叶癫痫(TLE)患者中的定位准确性、观察者间可靠性和预后价值。方法对60例连续接受癫痫切除手术的TLE患者进行分析。所有关键性SPECT研究均由ISAS和SISCOM处理。两名盲法审稿人独立确定了40个预先定义的脑亚区中最突出的高灌注区。在大叶和叶下水平对与实际切除部位的定位一致性进行评分。分析了观察者之间的一致性以及成像定位与术后癫痫发作结果的相关性。结果isas的定位一致性显著高于SISCOM (κ = 0.34-0.88 vs. 0.14-0.69)。ISAS与手术切除在大叶水平和叶下水平的一致性分别为88.7%和79.7%,而SISCOM的一致性分别为71.7%和60.9%。逻辑回归显示,只有ISAS定位在两个尺度上显著预测无癫痫发作的结果,而SISCOM没有。结论sisas在定位准确性和观察者可靠性方面优于SISCOM,其与手术切除的一致性有力地预测了术后癫痫发作的自由度。这些发现支持采用ISAS作为手术前评估TLE的一线SPECT后处理技术。
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引用次数: 0
Association of systemic inflammatory markers with post-stroke epilepsy after ischemic stroke: A competing risk analysis 全身性炎症标志物与缺血性卒中后癫痫的关联:一项竞争风险分析。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-07 DOI: 10.1016/j.seizure.2026.01.004
Pannaporn Imemkamon , Somjet Tosamran , Sununtha Jankaew , Nattawut Unwanatham , Chusak Limotai

Purpose

Post-stroke epilepsy (PSE) is a serious long-term complication of ischemic stroke, yet early identification of patients at risk remains challenging. Systemic inflammatory biomarkers may reflect underlying epileptogenic processes. This study explored the association between neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and hemoglobin-to-lymphocyte ratio (HLR) and the subsequent development of PSE in a large, long-term cohort.

Methods

We retrospectively analyzed 1445 adult patients hospitalized for acute ischemic stroke between 2014 and 2017 at a university-affiliated center. Patients with prior epilepsy were excluded. Blood counts within 2 days of admission were used to calculate NLR, PLR, and HLR. PSE was defined as the occurrence of at least one unprovoked seizure beyond 7 days post-stroke. A competing risk model was used to assess associations, accounting for death as a competing event.

Results

Over a median follow-up of nearly 7 years, 43 patients (2.98 %) developed PSE. Median NLR was higher in the PSE group than in the non-PSE group (3.45 vs. 2.94; nominal p = 0.036). In multivariable competing risk analysis, continuous NLR was nominally associated with PSE (subdistribution hazard ratio [SHR] = 1.048, 95 % CI 1.002–1.100; p = 0.040). As an exploratory sensitivity analysis, NLR > 7 was also associated with increased PSE incidence (SHR = 2.20, 95 % CI 1.11–4.35; p = 0.024). PLR and HLR did not show associations with PSE. The PSE group also experienced higher mortality and longer hospital stays.

Conclusion

NLR, an inexpensive and readily available inflammatory marker, was nominally associated with the development of PSE after ischemic stroke. These findings are exploratory and hypothesis-generating, supporting further investigation into the role of systemic inflammation in post-stroke epileptogenesis.
目的:卒中后癫痫(PSE)是缺血性卒中的一种严重的长期并发症,但早期识别患者的风险仍然具有挑战性。全身性炎症生物标志物可能反映潜在的癫痫发生过程。本研究在一个大型长期队列中探讨了中性粒细胞与淋巴细胞比率(NLR)、血小板与淋巴细胞比率(PLR)和血红蛋白与淋巴细胞比率(HLR)与PSE后续发展之间的关系。方法:回顾性分析2014年至2017年在某大学附属中心因急性缺血性脑卒中住院的1445例成人患者。排除既往有癫痫的患者。入院2天内的血液计数用于计算NLR、PLR和HLR。PSE定义为卒中后7天内至少发生一次非诱发性癫痫发作。使用竞争风险模型来评估关联,将死亡视为竞争事件。结果:在近7年的中位随访中,43例(2.98%)患者发生PSE。PSE组的中位NLR高于非PSE组(3.45 vs. 2.94;名义p = 0.036)。在多变量竞争风险分析中,连续NLR名义上与PSE相关(亚分布风险比[SHR] = 1.048, 95% CI 1.002-1.100; p = 0.040)。作为一项探索性敏感性分析,NLR bb0 7也与PSE发病率增加相关(SHR = 2.20, 95% CI 1.11-4.35; p = 0.024)。PLR和HLR与PSE无相关性。PSE组也经历了更高的死亡率和更长的住院时间。结论:NLR是一种廉价且容易获得的炎症标志物,名义上与缺血性卒中后PSE的发生有关。这些发现是探索性的和假设生成的,支持进一步研究全身性炎症在卒中后癫痫发生中的作用。
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引用次数: 0
KCTD7-related progressive myoclonic epilepsy: Clinical and genetic characterization of six Indian patients and review of literature kctd7相关的进行性肌阵挛性癫痫:6例印度患者的临床和遗传特征及文献综述
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-07 DOI: 10.1016/j.seizure.2026.01.005
Thuppanattumadam Ananthasubramanian Sangeeth , LG Viswanathan , Hansashree Padmanabha , Akshaya Janardhanan , Ajay Asranna , Gautham Arunachal , Raghavendra Kenchaiah , Ravindranadh CM , Jitender Saini , Sanjib Sinha

Background

Progressive myoclonic epilepsies (PMEs) are severe epileptic encephalopathies characterized by drug-resistant seizures, myoclonus, neuroregression, and ataxia. Biallelic variants in KCTD7 cause a rare autosomal recessive PME (MIM #611726).

Methods

We retrospectively analysed six unrelated children with genetically confirmed KCTD7-related PME diagnosed at a quaternary referral centre in South India (2018–2025). Clinical features, EEG, SSEP, MRI, and genetic results were reviewed. Variant pathogenicity was assessed per ACMG guidelines.

Results

Six patients (3 male, 3 female; median onset 11 months, range 6–18 months) were included. Initial symptoms were seizures (four patients) or developmental delay (two patients), with regression in five patients. Fever-triggered worsening was noted in all patients. Ataxia was a common symptom (five patients). EEG showed generalized or multifocal epileptiform discharges, often posterior-predominant. MRI demonstrated diffuse cerebral/cerebellar atrophy and characteristic thalamic T2 hypo-intensity in three patients. Genetic analysis identified seven variants: five missense and two frame-shift, including three novel variants (p.Arg279Cys, p.Asp115Profs88, and p.Cys71fs*130). The recurrent p.Ala178Val variant was observed in two patients. One patient had epilepsia partialis continua responsive to corticosteroids.

Conclusions

This series expands the phenotypic and genotypic spectrum of KCTD7-related PME in India. Key clinical clues include developmental regression, seizures, cortical myoclonus, fever-provoked worsening, posterior-dominant epileptiform discharges, and early ataxia. The study highlights the importance of comprehensive genetic testing for accurate diagnosis, prognostication, and counselling in early-onset epileptic encephalopathies.
背景:进行性肌阵挛性癫痫(PMEs)是一种以耐药癫痫发作、肌阵挛、神经退化和共济失调为特征的严重癫痫性脑病。KCTD7的双等位基因变异导致罕见的常染色体隐性PME (mim# 611726)。方法:我们回顾性分析了2018-2025年在南印度一家四级转诊中心诊断的6名无亲缘关系的kctd7相关PME患儿。本文回顾了临床特征、脑电图、SSEP、MRI和遗传结果。根据ACMG指南评估变异致病性。结果:纳入6例患者(男3例,女3例;中位发病11个月,范围6-18个月)。最初症状为癫痫发作(4例)或发育迟缓(2例),其中5例出现发育迟缓。所有患者均出现发热引发的病情恶化。共济失调是常见症状(5例)。脑电图显示全身性或多灶性癫痫样放电,常后侧为主。MRI显示3例患者弥漫性脑/小脑萎缩和特征性丘脑T2低强度。遗传分析发现7个变异:5个错义和2个帧移位,包括3个新变异(p.Arg279Cys、p.Asp115Profs88和p.Cys71fs*130)。2例患者出现p.a ala178val变异体复发。1例患者患有持续部分性癫痫,对皮质类固醇有反应。结论:该系列扩大了印度kctd7相关PME的表型和基因型谱。关键的临床线索包括发育倒退、癫痫发作、皮质肌阵挛、发热引起的恶化、后显性癫痫样放电和早期共济失调。该研究强调了全面的基因检测对早发性癫痫性脑病的准确诊断、预测和咨询的重要性。
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引用次数: 0
Nationwide registry-linked retrospective cohort study of Ganglioglioma in children and adults: Long-term follow-up of anti-seizure medication and mortality 儿童和成人神经节胶质瘤的全国登记回顾性队列研究:抗癫痫药物和死亡率的长期随访
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-06 DOI: 10.1016/j.seizure.2026.01.002
Irena Grubor , Maria Compagno Strandberg , Johan Bengzon

Purpose

Gangliogliomas are highly epileptogenic tumors that are common in epilepsy surgery. The main aim of this study was to investigate whether the outcome of Anti-seizure medication (ASM) withdrawal differed between patients undergoing ganglioglioma surgery in an epilepsy surgery program compared with those who underwent surgery in other surgical programs. We also investigated which factors influence ASM discontinuation after ganglioglioma surgery.

Method

We achieved a nationwide Swedish coverage by retrieving and linking data from five registries, including 144 patients of all ages with surgically confirmed ganglioglioma (ICD-O-95051/95053) treated between 2005 and 2019. Cases required concordance across registries and unmatched records were excluded. Key variables included age at surgery, waiting time for surgery, and tumor location, along with demographic, surgical, and ASM-related data. ASM discontinuation was defined as a 14-month dispensing-free interval. Associations with ASM discontinuation were examined using nonparametric tests, Kaplan-Meier estimates and Cox regression.

Results

Most patients, 76%, had been prescribed ASM during the study period. Increasing age was found to be negatively associated with ASM withdrawal. Five years after surgery, 36% of adults and 59% of children had discontinued ASMs. There was no difference in ASM withdrawal in patients who had undergone surgery in an epilepsy surgery program compared with those who had not. Mortality was 15% overall.

Conclusions

This study demonstrates that long-term ASM discontinuation after ganglioglioma surgery is negatively associated with increasing age. ASM discontinuation is the same for those undergoing surgery in an epilepsy surgery program as for those who do not. Future studies are needed to explore why older patients are less likely to discontinue ASM treatment after ganglioglioma surgery.
目的神经节胶质瘤是癫痫手术中常见的高致痫性肿瘤。本研究的主要目的是调查在癫痫手术项目中接受神经节胶质瘤手术的患者与在其他手术项目中接受手术的患者之间,抗癫痫药物(ASM)停药的结果是否存在差异。我们还研究了影响神经节胶质瘤手术后ASM停止的因素。方法:通过检索和连接来自5个注册中心的数据,我们实现了瑞典全国范围的覆盖,包括144名在2005年至2019年期间接受手术证实的神经节胶质瘤(ICD-O-95051/95053)患者。需要跨注册表进行一致性记录和不匹配记录的病例被排除在外。关键变量包括手术年龄、手术等待时间、肿瘤位置,以及人口统计学、外科和asm相关数据。ASM停药定义为14个月无配药间隔。采用非参数检验、Kaplan-Meier估计和Cox回归检验与ASM停药的关系。结果76%的患者在研究期间使用了ASM。年龄增加与ASM戒断呈负相关。手术后5年,36%的成人和59%的儿童停止了asm。在癫痫手术项目中接受手术的患者与未接受手术的患者在ASM戒断方面没有差异。总体死亡率为15%。结论:神经节胶质瘤术后长期ASM停药与年龄增长呈负相关。在癫痫手术项目中接受手术的患者和没有接受手术的患者停用ASM的方法是一样的。未来的研究需要探讨为什么老年患者在神经节胶质瘤手术后不太可能停止ASM治疗。
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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 Pub Date : 2026-01-01 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
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 Pub Date : 2026-01-01 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
期刊
Seizure-European Journal of Epilepsy
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