Seizure-European Journal of Epilepsy最新文献_第10页

Visualizing diagnostic delays in functional/dissociative seizures using the referral odyssey plot: A retrospective cohort study 使用转诊奥德赛图可视化功能性/分离性癫痫的诊断延迟：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 : 2025-12-01 Epub Date: 2025-10-13 DOI: 10.1016/j.seizure.2025.10.009

Kazutoshi Konomatsu , Yosuke Kakisaka , Maimi Ogawa , Mayu Fujikawa , Makoto Ishida , Takafumi Kubota , Kazushi Ukishiro , Nobukazu Nakasato , Masashi Aoki , Kazutaka Jin

Background

Functional/dissociative seizures (FDS) are often misdiagnosed as epilepsy, leading to delays in appropriate interventions. Although certain factors are associated with diagnostic delays, the overall referral trajectory remains unclear. This study aimed to illustrate the diagnostic journey with a novel visual approach, the “referral odyssey plot,” and to depict patient pathways and identify factors associated with referral delays and diagnosis.

Methods

We retrospectively reviewed 50 patients diagnosed with documented FDS at Tohoku University Hospital (2014–2024). All patients underwent comprehensive inpatient evaluation, including long-term video-electroencephalogram monitoring, brain MRI, and psychosocial assessment. Four milestones were defined: seizure onset (T1), first non-epileptologist visit (T2), first epileptologist consultation (T3), and epilepsy monitoring unit admission (T4). Diagnostic pathways were visualized using a referral odyssey plot. Associations between variables and intervals were analyzed using Spearman’s correlation, Friedman test, Mann–Whitney U test, and Kruskal–Wallis test.

Results

The median total delay (T1–T4) was 51 months (interquartile range: IQR, 83.8). The longest delay occurred between T2 and T3 (median, 41 months; IQR, 74.8) and strongly correlated with total delay (ρ=0.95, p < 0.001). Younger age at onset and a family history of epilepsy were significantly associated with longer T2–T3 intervals. Seizure worry scores were negatively correlated with T1–T2 intervals.

Conclusion

Referral delay to an epileptologist was the main contributor to prolonged diagnosis of FDS. The referral odyssey plot visualized individual trajectories and bottlenecks, supporting earlier specialist referrals. These findings highlight the need for timely access to epileptologists experienced in the comprehensive evaluation of epilepsy and FDS.

背景：功能性/解离性癫痫（FDS）经常被误诊为癫痫，导致适当干预的延误。虽然某些因素与诊断延误有关，但总体转诊轨迹仍不清楚。本研究旨在用一种新颖的视觉方法来说明诊断过程，即“转诊奥德赛图”，并描绘患者的路径，并确定与转诊延迟和诊断相关的因素。方法：回顾性分析2014-2024年在东北大学医院诊断为FDS的50例患者。所有患者都接受了全面的住院评估，包括长期视频脑电图监测、脑MRI和心理社会评估。定义了四个里程碑：癫痫发作（T1）、首次非癫痫医生就诊（T2）、首次癫痫医生会诊（T3）和癫痫监测单位入院（T4）。使用转诊奥德赛图可视化诊断途径。采用Spearman相关、Friedman检验、Mann-Whitney U检验和Kruskal-Wallis检验分析变量与区间之间的关联。结果：中位总延迟（T1-T4）为51个月（四分位数差：IQR， 83.8）。最长的延迟发生在T2和T3之间（中位41个月；IQR, 74.8），并与总延迟密切相关（ρ=0.95, p < 0.001）。起病年龄较小和癫痫家族史与较长的T2-T3间期显著相关。发作焦虑评分与T1-T2时间间隔呈负相关。结论：转诊延迟是导致FDS诊断延长的主要原因。转诊奥德赛图可视化个人轨迹和瓶颈，支持早期专家转诊。这些发现强调需要及时获得在癫痫和FDS综合评估方面经验丰富的癫痫学家。

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引用次数: 0

Fenfluramine treatment beyond dravet and lennox-gastaut syndromes - A retrospective study suggesting a novel use in genetic, developmental and epileptic encephalopathies (DEEs) 芬氟拉明治疗偏头痛和lennox-胃综合征——一项回顾性研究表明，芬氟拉明在遗传性、发展性和癫痫性脑病（des）中的新应用。

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2025-12-01 Epub Date: 2025-09-24 DOI: 10.1016/j.seizure.2025.09.013

Amy Urbina Lopez , Robin T Varughese , Candice Marti , Aizara Ermekbaeva , Poduri Annapurna , Kothare Sanjeev , Yash Shah

Introduction

Fenfluramine (FFA), an amphetamine derivative, was historically used as an appetite suppressant but was discontinued for its association with valvular heart disease and pulmonary hypertension. More recently, significant results in randomized trials demonstrated promising seizure reduction properties. Further research led to FDA approval for usage of FFA in children aged two years and older with Dravet syndrome (DS) in 2020 and Lennox-Gastaut syndrome (LGS) in 2022 [1,2]. Considering FFA’s success in these populations, we aimed to characterize the extent of its efficacy related to drug-resistant epilepsy in individuals with genetic developmental and/or epileptic encephalopathies (DEEs). We hypothesized similar rates of improvement (at least 25 % seizure reduction) as the LGS and DS studies.

Methods

After Institutional Review Board approval, a systematic retrospective chart review was conducted of pediatric patients with DEE receiving clinical care in Boston Children’s Hospital, Cohen Children’s Medical Center, and Our Lady of the Lake Children’s Hospital-Baton Rouge systems who were placed on FFA after July 1, 2020. Self-reported seizure frequency and side effects were extracted. Reduction in monthly seizure frequency was the primary outcome investigated. Related-Samples Wilcoxon Signed Rank Test was performed to evaluate mean difference in seizure frequency pre-and-post-FFA treatment. The patients in this sample were on FFA for a duration of 23.5 ± 15.1 months.

Results

There were 20 children with epilepsy of diverse etiologies (excluding LGS and DS) who were placed on FFA and met our inclusion criteria. A statistically significant (p = 0.02) decrease in seizure frequency in days per month was found, with a mean reduction of 4.6 days per month. For generalized seizure types, there was a median reduction of 7 days per month. Some children responded more dramatically than others with 95 % seizure reduction in our two children with apneic seizures and tuberous sclerosis. Nine of twenty children observed had at least 50 % seizure reduction, 8 of which had at least 75 % seizure reduction. Additionally, the safety profile of FFA was similar as the one reported in the studies done on patients with DS and LGS.

Conclusions

This retrospective report suggests that FFA may be an effective add-on therapeutic option in children with rare, genetic epilepsies where efficacy was notable early on in drug initiation and titration. A trial of FFA for drug-resistant seizures may be considered to assess efficacy in the DEE population beyond DS and LGS.

芬氟拉明（FFA）是一种安非他明衍生物，历史上被用作食欲抑制剂，但因其与瓣膜性心脏病和肺动脉高压相关而被停用。最近，随机试验的显著结果显示有希望减少癫痫发作的特性。进一步的研究导致FDA于2020年批准FFA用于2岁及以上的Dravet综合征（DS）儿童，并于2022年批准lenox - gastaut综合征（LGS）儿童[1,2]。考虑到FFA在这些人群中的成功，我们的目的是表征其与遗传发育和/或癫痫性脑病（dee）个体的耐药癫痫相关的疗效程度。我们假设与LGS和DS研究相似的改善率（至少25%的癫痫发作减少）。方法：经机构审查委员会批准，对2020年7月1日之后在波士顿儿童医院、科恩儿童医疗中心和巴吞鲁日湖圣母儿童医院系统接受临床治疗的DEE儿科患者进行系统回顾性图表审查。提取自我报告的癫痫发作频率和副作用。减少每月癫痫发作频率是研究的主要结果。相关样本Wilcoxon sign Rank检验评估ffa治疗前后癫痫发作频率的平均差异。本组患者接受FFA治疗时间为23.5±15.1个月。结果：有20例不同病因的癫痫患儿（不包括LGS和DS）接受了FFA治疗，符合我们的纳入标准。发作次数每月减少4.6天，差异有统计学意义（p = 0.02）。对于广泛性癫痫发作类型，每月平均减少7天。在我们的两个患有呼吸暂停发作和结节性硬化症的孩子中，一些孩子的反应比其他孩子更显著，癫痫发作减少了95%。观察到的20名儿童中有9名癫痫发作减少至少50%，其中8名癫痫发作减少至少75%。此外，FFA的安全性与在DS和LGS患者中进行的研究报告相似。结论：本回顾性报告表明，FFA可能是罕见遗传性癫痫儿童的一种有效的附加治疗选择，其疗效在药物起始和滴定早期就显着。FFA治疗耐药癫痫发作的试验可以考虑评估在DS和LGS以外的DEE人群中的疗效。

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引用次数: 0

Novel PAK1 variants related to a variable phenotypic spectrum ranging from mild developmental delay to infantile epileptic spasms syndrome 新的PAK1变异与从轻度发育迟缓到婴儿癫痫痉挛综合征的可变表型谱有关。

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2025-12-01 Epub Date: 2025-10-16 DOI: 10.1016/j.seizure.2025.10.010

Ting Wang , Shijia Ouyang , Dongfang Zou , Zeyong Dong , Zeshi Tan , Haipo Yang , Jianxiang Liao , Dezhi Cao , Yuehua Zhang

Objective

To identify the novel variants and explore the new phenotypes of patients with PAK1-related disorder.

Methods

Five patients with PAK1 variants were identified by whole-exon sequencing. Damaging effects of variants were analyzed using protein modelling.

Results

In this study, 5 patients were identified with 5 de novo PAK1 variants, including p.Ile312Ser, p.Asp407Asn, p.Met453Thr, p.Leu470Pro, and p.Ile476Thr. All variants were missense, and one of which was a mosaic variant (Leu470Pro), with a variant allele fraction of 13.4 % (13/97). Four of five patients with PAK1 variants had epilepsy, the seizure types included focal seizures, generalized tonic-clonic seizure and epileptic spasms. One patient diagnosed with infantile epileptic spasms syndrome (IESS). Four patients had macrocephaly. One patient only had mild developmental delay (DD) and normal head circumference. All missense variants identified in this study were predicted to be “damaging” by multiple in silico tools and to alter the hydrogen bonds with surrounding residues and/or protein stability. Notably, the variant Asp407Asn associated with a milder phenotype is predicted to have increased hydrogen bonds with ATP in contrast to our other reported variants. Spatial and temporal expression analysis showed that PAK1 had three peak expressions in infant, adolescent and early adult brain subregions. Collectively, in our study (n = 5) and published studies (n = 11), all variants were missense variants. PAK1-related disorders encompass a wide phenotypic spectrum, including macrocephaly, epilepsy and DD/intellectual disability (ID). Seizures were observed in 81.25 % (13/16) of patients, and 53.8 % (7/13) patients with epilepsy had febrile seizure.

Conclusions

All variants of PAK1-related disorders were missense variants. In this study, five de novo variants were included, and Leu470Pro was the first reported mosaic variant in PAK1. PAK1-related disorders encompass a wide phenotypic spectrum, including macrocephaly, epilepsy and DD/ID. IESS is a rare newly recognized phenotype of PAK1-related epilepsy. More than half of patients with epilepsy had febrile seizure.

目的：鉴定pak1相关疾病患者的新变异并探索其新的表型。方法：采用全外显子测序方法对5例PAK1变异患者进行鉴定。利用蛋白质模型分析了变异的破坏性影响。结果：在本研究中，5例患者被鉴定出5种新发PAK1变异，包括p.i ile312ser、p.p asp407asn、p.Met453Thr、p.p ile470pro和p.p ile476thr。所有变异均为错义，其中1个为马赛克变异（Leu470Pro），变异等位基因分数为13.4%（13/97）。PAK1变异的5例患者中有4例有癫痫，发作类型包括局灶性发作、全身性强直阵挛性发作和癫痫性痉挛。1例诊断为婴儿癫痫痉挛综合征（IESS）。4例患者有大头畸形。一名患者只有轻度发育迟缓（DD）和头围正常。本研究中发现的所有错义变异都被多种硅工具预测为“破坏性”，并改变与周围残基和/或蛋白质稳定性的氢键。值得注意的是，与我们报道的其他变体相比，与温和表型相关的Asp407Asn变体预计与ATP的氢键增加。时空表达分析显示，PAK1在婴儿、青少年和成人早期脑区有三个峰值表达。总的来说，在我们的研究（n = 5）和已发表的研究（n = 11）中，所有的变异都是错义变异。pak1相关疾病包括广泛的表型谱，包括大头畸形、癫痫和DD/智力残疾（ID）。81.25%（13/16）的患者出现癫痫发作，53.8%（7/13）的患者出现热性癫痫发作。结论：pak1相关疾病的所有变异均为错义变异。在这项研究中，包括了5个新的变异，Leu470Pro是PAK1中第一个报道的马赛克变异。pak1相关疾病包括广泛的表型谱，包括大头畸形、癫痫和DD/ID。IESS是一种罕见的新发现的pak1相关癫痫表型。超过一半的癫痫患者有热性发作。

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引用次数: 0

Biallelic ACSF3 variants with combined malonic and methylmalonic acidemia and associated developmental epileptic encephalopathy phenotype: A novel genotype-phenotype correlation 双等位ACSF3变异与合并丙二酸和甲基丙二酸血症及相关的发展性癫痫性脑病表型：一种新的基因型-表型相关性

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2025-12-01 Epub Date: 2025-09-23 DOI: 10.1016/j.seizure.2025.09.015

JuleLayne Curry , Emily Bonkowski , Heather Mefford , James Wheless , Nitish Chourasia

Purpose

Combined malonic and methylmalonic acidemia (CMAMMA) is a rare genetic disorder caused by biallelic variants in the acyl-CoA synthetase family member 3 (ACSF3) gene (Witkowski et al., 2011) and is associated with elevated levels of malonic acid (MA) and methylmalonic acid (MMA) in urine (Sloan et al., 2011). CMAMMA is generally considered a benign disorder, with recent descriptions of potential neuropsychiatric symptoms in children (Levtova et al., 2019). We expand the phenotype by describing a case of severe developmental and epileptic encephalopathy with a CMAMMA-associated Lennox-Gastaut Syndrome (LGS) phenotype and comorbid neuropsychiatric abnormalities.

Methods and Results

An 8-year-old boy with CMAMMA, referred to our clinic’s neurogenetic center, presented with refractory epilepsy and severe neurobehavioral symptoms. His epilepsy consisted of tonic, atonic, and generalized tonic-clonic seizures with electroclinical features consistent with LGS. The patient had comorbid autism, aggression, and intellectual disability with a history of developmental regression. Genetic testing confirmed pathogenic biallelic ACSF3 variants, and urine organic acid testing showed elevated levels of MA and MMA in urine.

Conclusion

This case suggests that CMAMMA can lead to severe epilepsy and a neuropsychiatric phenotype, expanding the clinical spectrum of the disorder.

联合丙二酸和甲基丙二酸血症（CMAMMA）是一种罕见的遗传性疾病，由酰基辅酶a合成酶家族成员3 （ACSF3）基因的双等位基因变异引起（Witkowski等，2011），并与尿液中丙二酸（MA）和甲基丙二酸（MMA）水平升高有关（Sloan等，2011）。CMAMMA通常被认为是一种良性疾病，最近有关于儿童潜在神经精神症状的描述（Levtova et al., 2019）。我们通过描述一个伴有cmamma相关Lennox-Gastaut综合征（LGS）表型和共病神经精神异常的严重发育性和癫痫性脑病病例来扩展表型。方法与结果一名8岁CMAMMA男童，以难治性癫痫和严重的神经行为症状转诊至我院神经遗传中心。他的癫痫包括强直性、失张力性和全身性强直性阵挛性发作，其电临床特征与LGS一致。患者同时患有自闭症、攻击性和智力障碍，并有发育倒退史。基因检测证实致病性双等位基因ACSF3变异，尿液有机酸检测显示尿中MA和MMA水平升高。结论本病例提示CMAMMA可导致严重癫痫和神经精神表型，扩大了该疾病的临床谱。

{"title":"Biallelic ACSF3 variants with combined malonic and methylmalonic acidemia and associated developmental epileptic encephalopathy phenotype: A novel genotype-phenotype correlation","authors":"JuleLayne Curry , Emily Bonkowski , Heather Mefford , James Wheless , Nitish Chourasia","doi":"10.1016/j.seizure.2025.09.015","DOIUrl":"10.1016/j.seizure.2025.09.015","url":null,"abstract":"<div><h3>Purpose</h3><div>Combined malonic and methylmalonic acidemia (CMAMMA) is a rare genetic disorder caused by biallelic variants in the acyl-CoA synthetase family member 3 (<em>ACSF3</em>) gene (Witkowski et al., 2011) and is associated with elevated levels of malonic acid (MA) and methylmalonic acid (MMA) in urine (Sloan et al., 2011). CMAMMA is generally considered a benign disorder, with recent descriptions of potential neuropsychiatric symptoms in children (Levtova et al., 2019). We expand the phenotype by describing a case of severe developmental and epileptic encephalopathy with a CMAMMA-associated Lennox-Gastaut Syndrome (LGS) phenotype and comorbid neuropsychiatric abnormalities.</div></div><div><h3>Methods and Results</h3><div>An 8-year-old boy with CMAMMA, referred to our clinic’s neurogenetic center, presented with refractory epilepsy and severe neurobehavioral symptoms. His epilepsy consisted of tonic, atonic, and generalized tonic-clonic seizures with electroclinical features consistent with LGS. The patient had comorbid autism, aggression, and intellectual disability with a history of developmental regression. Genetic testing confirmed pathogenic biallelic <em>ACSF3</em> variants, and urine organic acid testing showed elevated levels of MA and MMA in urine.</div></div><div><h3>Conclusion</h3><div>This case suggests that CMAMMA can lead to severe epilepsy and a neuropsychiatric phenotype, expanding the clinical spectrum of the disorder.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"133 ","pages":"Pages 16-19"},"PeriodicalIF":2.8,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145271022","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

Early point-of-care EEG in acute stroke: Prevalence and predictive factors of early post-stroke status epilepticus (e-PSSE) 急性卒中早期即时脑电图：卒中后早期癫痫持续状态（e-PSSE）的患病率及预测因素

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2025-12-01 Epub Date: 2025-09-25 DOI: 10.1016/j.seizure.2025.09.016

Giovanni Furlanis , Edoardo Ricci , Miloš Ajčević , Stefania Pavan , Katerina Iscra , Gabriele Prandin , Michele Malesani , Emanuele Vincis , Laura Mancinelli , Federica Palacino , Magda Quagliotto , Gianpiero Farina , Giulia Mazzon , Marinella Tomaselli , Paola Caruso , Marcello Naccarato , Paolo Manganotti

Purpose

Status epilepticus (SE) is a severe complication of acute stroke (AS), with an incidence of approximately 1.5 %. This study aimed to investigate the prevalence of early post-stroke status epilepticus (e-PSSE) in a real-world stroke cohort using point-of-care EEG within the first 72 h after admission and identify the clinical and laboratory factors associated with its onset during the acute phase.

Methods

Clinical, laboratory and radiological data of 647 consecutive patients with AS assessed with point-of-care EEG were retrospectively analyzed. EEG was evaluated for the diagnosis of e-PSSE according to the International Federation of Clinical Neurophysiology criteria. Data of AS patients with PSSE were compared with those without PSSE. Multivariate logistic regression analysis was conducted to identify factors associated with the onset of PSSE.

Results

The median age of the cohort was 78 (68–83) and the median NIHSS at admission was 7 (2–11). Early PSSE was found in 27 (4.2 %) of 647 included patients. Multivariate analysis showed that female sex (OR=1.039, p = 0.011), chronic kidney disease (OR=1.052, p = 0.018), hemorrhagic stroke (OR=1.075, p < 0.001), a higher neutrophil to lymphocyte ratio (NLR) (OR=1.005, p = 0.001) and NIHSS at admission (OR=1.004, p = 0.002) were significantly associated with the onset of PSSE.

Conclusion

This study highlights the critical role of early EEG assessment in detecting e-PSSE, with an incidence of 4.2 %. Moreover, our findings identify female sex, a history of CKD, higher NIHSS scores, hemorrhagic stroke, and the NLR as independent predictors of PSSE in the acute phase.

目的癫痫持续状态（SE）是急性卒中（AS）的严重并发症，发生率约为1.5%。本研究旨在利用入院后72小时的即时脑电图（EEG）调查现实世界卒中队列中早期卒中后癫痫持续状态（e-PSSE）的患病率，并确定与急性期发作相关的临床和实验室因素。方法回顾性分析647例AS患者的临床、实验室及影像学资料。根据国际临床神经生理学联合会的标准评估脑电图诊断e-PSSE。将合并PSSE的AS患者与未合并PSSE的AS患者的数据进行比较。进行多因素logistic回归分析以确定与PSSE发病相关的因素。结果队列患者年龄中位数为78(68 ~ 83)，入院时NIHSS中位数为7（2 ~ 11）。647例患者中有27例（4.2%）发现早期PSSE。多因素分析显示，女性（OR=1.039, p = 0.011）、慢性肾脏疾病（OR=1.052, p = 0.018）、出血性卒中（OR=1.075, p < 0.001）、入院时中性粒细胞与淋巴细胞比值（NLR）升高（OR=1.005, p = 0.001）和NIHSS （OR=1.004, p = 0.002）与PSSE的发生有显著相关性。结论早期脑电图评估对发现e-PSSE具有重要作用，其发生率为4.2%。此外，我们的研究结果表明，女性、CKD病史、较高的NIHSS评分、出血性卒中和NLR是急性期PSSE的独立预测因素。

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引用次数: 0

Evolution in the use of epilepsy surgery in tuberous sclerosis complex. Analysis of the Pediatric Health Information System over two decades 在结节性硬化症复合体中应用癫痫手术的进展。二十年来儿科卫生信息系统分析

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2025-12-01 Epub Date: 2025-10-30 DOI: 10.1016/j.seizure.2025.10.024

Iván Sánchez Fernández , Ellen C. Broekhuizen , Alex S. Aguirre Bonilla , Daan A. Pijs , Jurriaan M. Peters

Purpose

To describe the utilization of epilepsy surgery in children with tuberous sclerosis complex (TSC), its evolution over the years, and the factors that predict epilepsy surgery use.

Methods

Retrospective descriptive study using the Pediatric Health Information System (PHIS) database between 2004 and 2024. Our main outcome was the proportion of children with TSC and drug-resistant epilepsy who received epilepsy surgery. We adjusted for potential confounders with a generalized estimating equation.

Results

2769 children had TSC and drug-resistant epilepsy (53 % males, median (p₂₅-p₇₅) age at first diagnosis of drug-resistant epilepsy: 5.2 (2.2–11.1) years). 802 (29.0 %) children underwent a total of 955 epilepsy surgeries. 307 (32.1 %) children had lobectomy, 599 (62.7 %) children had other excision of brain tissue, 61 (6.4 %) children had laser interstitial thermal therapy, 24 (2.5 %) children had intracranial neuromodulation, and 13 (1.4 %) children had hemispherectomy. Although the absolute number of epilepsy surgeries increased among children with long follow-up, the number of epilepsy surgeries per person-year decreased over the years. Although the cost during the epilepsy surgery admission is high [median (p₂₅-p₇₅): $72,415 ($44,734-$116,353), the healthcare cost per person-year after epilepsy surgery substantially decreased compared to prior to surgery [$9550 ($3408-$22,134) versus $28,268 ($15,936-$46,851)]. Black race, American Indian race, and public insurance were major factors which decreased the probability of receiving epilepsy surgery.

Conclusion

The proportion of children with TSC and drug-resistant epilepsy who receive epilepsy surgery is low, especially in marginalized populations, and has not increased over the years. Healthcare resource utilization may decrease after epilepsy surgery.

目的了解儿童结节性硬化症（TSC）癫痫手术的应用情况、多年来的演变及预测癫痫手术应用的因素。方法利用2004 - 2024年儿童卫生信息系统（PHIS）数据库进行回顾性描述性研究。我们的主要结局是TSC和耐药癫痫患儿接受癫痫手术的比例。我们用广义估计方程调整了潜在的混杂因素。结果2769例TSC合并耐药癫痫患儿（男性53%，首次诊断为耐药癫痫的中位年龄（p25-p75）： 5.2（2.2-11.1）岁）。802例（29.0%）儿童接受了955例癫痫手术。307例（32.1%）患儿行肺叶切除术，599例（62.7%）患儿行其他脑组织切除术，61例（6.4%）患儿行激光间质热治疗，24例（2.5%）患儿行颅内神经调节，13例（1.4%）患儿行脑半球切除术。虽然长期随访儿童的癫痫手术绝对数量有所增加，但每年人均癫痫手术数量逐年下降。虽然癫痫手术住院期间的费用很高[中位数（p25-p75）： 72,415美元（44,734美元- 116,353美元）]，但癫痫手术后每人每年的医疗费用与手术前相比大幅下降[9550美元（3408美元- 22134美元）对28,268美元（15,936美元- 46,851美元）]。黑人种族、美洲印第安人种族和公共保险是降低接受癫痫手术概率的主要因素。结论TSC合并耐药癫痫患儿接受癫痫手术的比例较低，尤其是在边缘人群中，且多年来没有增加。癫痫手术后医疗资源利用率可能降低。

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引用次数: 0

Predicting oxcarbazepine-induced hyponatremia in adult epilepsy patients: A multicenter machine learning analysis using real-world CDM data 预测成人癫痫患者奥卡西平诱导的低钠血症：使用真实世界CDM数据的多中心机器学习分析。

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2025-12-01 Epub Date: 2025-10-16 DOI: 10.1016/j.seizure.2025.10.004

Gucheol Jung , JaeHyeok Lee , Sung-Min Gho , YoungMi Han , ByungKwan Choi , Jae Wook Cho , Jiyoung Kim , Gha-hyun Lee

Purpose

Oxcarbazepine (OXC) is a widely used antiseizure medication (ASM) associated with hyponatremia. This study aimed to assess the prevalence and risk factors for OXC-induced severe hyponatremia using machine learning (ML) models applied to multicenter real-world data standardized within the Observational Medical Outcomes Partnership–Common Data Model (OMOP–CDM).

Methods

We conducted a retrospective cohort study using OMOP-CDM data from two tertiary hospitals in South Korea. Adult epilepsy patients prescribed OXC were included, and severe hyponatremia was defined as a serum sodium concentration ≤128 mmol/L. Two prediction experiments were conducted: (1) single-institution training and external validation of an XGBoost model; and (2) multicenter training and evaluation of five machine learning algorithms, including XGBoost, random forest, support vector machine, logistic regression, and naïve Bayes. SHAP (SHapley Additive exPlanations) values were used for model interpretation.

Results

Among 2253 patients, the prevalence of severe hyponatremia was 8.4%. In Experiment 1, XGBoost showed strong internal performance (AUROC 0.82) but decreased external performance (AUROC 0.72). In Experiment 2, XGBoost trained on multicenter data achieved the highest AUROC (0.83) and F1-score (0.41), outperforming other models. SHAP analysis identified key predictors including valproate use, diuretics, high OXC dosage, age, and stroke history. Additional medications such as beta-blockers, calcium channel blockers, hypnotics, and other ASMs (e.g., levetiracetam, pregabalin, lacosamide) also contributed to risk.

Conclusion

XGBoost demonstrated robust predictive performance for OXC-induced severe hyponatremia using multicenter CDM data. SHAP-based interpretation revealed clinically relevant risk factors, supporting the implementation of personalized monitoring strategies in epilepsy care.

目的：奥卡西平（OXC）是一种广泛应用于低钠血症的抗癫痫药物（ASM）。本研究旨在利用机器学习（ML）模型评估oxc诱导的严重低钠血症的患病率和危险因素，该模型应用于观察性医疗结果合作伙伴关系-公共数据模型（OMOP-CDM）中标准化的多中心真实世界数据。方法：我们使用韩国两家三级医院的OMOP-CDM数据进行了回顾性队列研究。纳入处方OXC的成人癫痫患者，重度低钠血症定义为血清钠浓度≤128 mmol/L。进行了两项预测实验：(1)XGBoost模型的单机构训练和外部验证；(2) XGBoost、随机森林、支持向量机、逻辑回归、naïve贝叶斯五种机器学习算法的多中心训练与评价。采用SHapley加性解释（SHapley Additive explanation）值进行模型解释。结果：2253例患者中，重度低钠血症患病率为8.4%。在实验1中，XGBoost表现出较强的内部性能（AUROC为0.82），但外部性能下降（AUROC为0.72）。在实验2中，在多中心数据上训练的XGBoost获得了最高的AUROC（0.83）和F1-score(0.41)，优于其他模型。SHAP分析确定的关键预测因素包括丙戊酸盐使用、利尿剂、高氧血氧浓度、年龄和卒中史。其他药物如-受体阻滞剂、钙通道阻滞剂、催眠药和其他抗痉挛药物（如左乙拉西坦、普瑞巴林、拉科沙胺）也会增加风险。结论：使用多中心CDM数据，XGBoost对oxc诱导的严重低钠血症具有强大的预测性能。基于shap的解释揭示了临床相关的危险因素，支持在癫痫护理中实施个性化监测策略。

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引用次数: 0

The role of psychological well-being in the effect of spirituality on stigma in individuals with epilepsy 心理健康在精神对癫痫患者病耻感的影响中的作用

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2025-12-01 Epub Date: 2025-10-10 DOI: 10.1016/j.seizure.2025.10.005

Yakup Sarpdağı , Mustafa Kiraz , Muhammet Okay Örün , Özkan Sir , Ebubekir Kaplan , Kemal Atan , Necmettin Çiftci , Metin Yıldız

Objective

The aim of this study is to examine the mediating role of psychological well-being in the effect of spirituality on stigma in individuals with epilepsy.

Methods

This cross-sectional and descriptive study was conducted between March 2024 and January 2025 at a training and research hospital in Van, Turkey, with 257 individuals aged 18 and above diagnosed with epilepsy. Data were collected using a Personal Information Form, the Spirituality Scale, the Psychological Well-being Scale, and the Stigma Scale for Epilepsy Patients. Data were analyzed using SPSS, R programming language 4.1.3 and G*Power software.

Results

This study showed that an increase in spirituality was positively associated with psychological well-being (β = 0.976, p < 0.001) and negatively associated with stigmatization (β = -0.752, p < 0.001). Furthermore, psychological well-being was found to be a partial mediator of the relationship between spirituality and stigmatization (indirect effect = -0.2938, 95% CI: -0.4506, -0.1418), suggesting that spirituality may be related to levels of stigmatization not only directly but also through psychological well-being.

Conclusion

The findings of this study indicate that spirituality plays a significant role in reducing stigma among individuals with epilepsy, with psychological well-being acting as a partial mediator in this relationship. As levels of spirituality and psychological well-being increase, perceived stigma decreases. These results highlight the importance of spirituality and psychological well-being in interventions aimed at reducing stigma and improving mental health.

目的探讨心理健康在精神治疗对癫痫患者病耻感的影响中的中介作用。方法本横断面描述性研究于2024年3月至2025年1月在土耳其Van的一家培训和研究医院进行，共有257名18岁及以上的癫痫患者。数据采用个人信息表、精神量表、心理健康量表和癫痫患者污名化量表收集。采用SPSS、R 4.1.3编程语言和G*Power软件对数据进行分析。结果本研究显示，灵性的增加与心理健康呈正相关（β = 0.976, p < 0.001），与污名化负相关（β = -0.752, p < 0.001）。此外，我们还发现心理健康是精神性和污名化之间关系的部分中介（间接效应= -0.2938,95% CI: -0.4506, -0.1418），这表明精神性不仅直接与污名化水平相关，而且可能通过心理健康与之相关。结论精神在减少癫痫患者的病耻感中起着重要作用，而心理健康在这一关系中起部分中介作用。随着精神和心理健康水平的提高，感知到的耻辱减少。这些结果突出了精神和心理健康在旨在减少耻辱感和改善心理健康的干预措施中的重要性。

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引用次数: 0

Financial distress among individuals with epilepsy: Insights from a nationwide survey analysis 癫痫患者的经济困难：来自全国调查分析的见解。

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2025-12-01 Epub Date: 2025-09-20 DOI: 10.1016/j.seizure.2025.09.012

Jaan K Nandwani , Soonmyung A Hwang , Leah Blank , Benjamin R Kummer , Parul Agarwal

Purpose

We aimed to assess the prevalence of financial distress, defined as the negative effects of the economic burden of medical care on patients’ quality of life, in persons with epilepsy compared to those without epilepsy in a nationally representative sample of U.S. adults. We also aimed to identify associated factors of financial distress in persons with active epilepsy.

Methods

We pooled cross-sectional data from the 2021 and 2022 National Health Interview Survey. We divided individuals with epilepsy into active (medication use or seizure in the past year) and inactive cohorts. We analyzed measures of financial distress using survey responses from individuals who had self-reported epilepsy. Multivariable logistic regression was conducted to investigate the association between epilepsy status and financial distress, and to identify factors associated with financial distress measures among persons with epilepsy.

Results

In a multivariable logistic regression analysis, epilepsy status was not significantly associated with financial distress (OR=1.03, 95% CI: 0.87–1.22, p = 0.76). However, several factors were significantly associated with higher odds of financial distress among those with active epilepsy, including female sex (OR=1.38, 95% CI: 1.32–1.44), Hispanic ethnicity (OR=1.72, 95% CI 1.61–1.85), having a high school degree or less (OR=1.34, 95% CI: 1.26–1.41), one or more annual hospitalizations (OR=1.33, 95% CI: 1.27–1.40), and multiple comorbidities (OR=1.76, 95% CI: 1.60–1.93).

Conclusion

A substantial proportion of individuals with active epilepsy experience financial distress, underscoring the need for system-level policies to expand access and patient-level strategies to improve financial navigation and promote affordable therapies.

目的：我们旨在评估癫痫患者与非癫痫患者在全国代表性的美国成人样本中经济窘迫的流行程度，经济窘迫定义为医疗保健经济负担对患者生活质量的负面影响。我们还旨在确定活动性癫痫患者经济困难的相关因素。方法：我们汇集了2021年和2022年全国健康访谈调查的横断面数据。我们将癫痫患者分为活跃组（过去一年中使用药物或癫痫发作）和非活跃组。我们使用自我报告患有癫痫的个体的调查反应来分析财务困境的措施。采用多变量logistic回归研究癫痫状态与经济困难之间的关系，并确定癫痫患者经济困难措施的相关因素。结果：在多变量logistic回归分析中，癫痫状态与财务困境无显著相关性（OR=1.03, 95% CI: 0.87-1.22, p = 0.76）。然而，有几个因素与活动性癫痫患者较高的经济困难发生率显著相关，包括女性（OR=1.38, 95% CI: 1.32-1.44）、西班牙裔（OR=1.72, 95% CI: 1.61-1.85）、高中或以下学历（OR=1.34, 95% CI: 1.26-1.41）、每年一次或多次住院（OR=1.33, 95% CI: 1.27-1.40）和多种合并症（OR=1.76, 95% CI: 1.60-1.93）。结论：相当大比例的活动性癫痫患者经历财务困境，强调需要制定系统层面的政策以扩大可及性，并需要制定患者层面的战略以改善财务导航并促进负担得起的治疗。

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引用次数: 0

Electroencephalographic manifestations of intracranial hypertension in a patient with ventriculoperitoneal shunt malfunction 脑室-腹膜分流功能障碍患者颅内高压的脑电图表现

IF 2.8 3区医学 Q2 CLINICAL NEUROLOGY

Seizure-European Journal of Epilepsy

Pub Date : 2025-12-01 Epub Date: 2025-10-24 DOI: 10.1016/j.seizure.2025.10.017

E. Bernardi , V. Ros-Castelló , M. Coronel-Coronel , R. Lazzari , J.A. Aibar-Durán , A. Sierra-Marcos

Background

Differentiating epileptic seizures from manifestations of intracranial pressure (ICP) fluctuations can be challenging in patients with a ventriculoperitoneal shunt (VPS). We report a case of intermittent VPS malfunction presenting with focal motor events initially misdiagnosed as refractory status epilepticus.

A 27-year-old man with childhood-onset hydrocephalus treated with a right VPS and a previous history of focal epilepsy—managed with levetiracetam, perampanel, and lacosamide—presented with increased seizure frequency and intermittent headaches. Initial treatment included continuous infusions of valproate, lacosamide, and levetiracetam under the presumption of status epilepticus. However, prolonged (15-hour) video-EEG monitoring during the clinical events showed diffuse delta activity with suppression of the background rhythm rather than ictal discharges. These EEG changes coincided with episodes of arterial hypertension, profound bradycardia (as low as 20 bpm), and papilledema on funduscopic examination. Revision of the shunt system resulted in complete resolution of symptoms and withdrawal of antiseizure medications.

Conclusion

Extended video-EEG monitoring can be a useful tool to distinguish epileptic seizures from paroxysmal manifestations of paroxysmal intracranial hypertension due to VPS malfunction.

背景：在脑室-腹膜分流（VPS）患者中，区分癫痫发作与颅内压（ICP）波动的表现是具有挑战性的。我们报告一例间歇性VPS功能障碍，表现为局灶性运动事件，最初误诊为难治性癫痫持续状态。一名27岁男性，儿童期发病脑积水，接受右侧VPS治疗，既往有局灶性癫痫史（用左乙拉西坦、perampanel和lacosamide治疗），癫痫发作频率增加，间歇性头痛。初始治疗包括在假定癫痫持续状态下持续输注丙戊酸钠、拉科沙胺和左乙拉西坦。然而，在临床事件期间长时间（15小时）的视频脑电图监测显示弥漫性三角洲活动抑制背景节律，而不是初始放电。这些脑电图变化与动脉高血压、深度心动过缓（低至每分钟20次）和眼底检查的乳头水肿发作相吻合。分流系统的修改导致症状的完全解决和抗癫痫药物的退出。结论扩展视频脑电图监测可作为区分癫痫发作与VPS功能障碍引起的阵发性颅内高压的有效工具。

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引用次数: 0