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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 Pub 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。
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引用次数: 0
Association between haemorrhagic transformation in acute ischaemic strokes and incidence of post-stroke epilepsy: A systematic review and meta-analysis 急性缺血性卒中出血转化与卒中后癫痫发病率之间的关系:系统回顾和荟萃分析。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-09-22 DOI: 10.1016/j.seizure.2025.09.014
Nicholas Goh , Karthikeyan Saravanan , Mya Thee Char Tin Oo , Evan Michael NEO Ren Jie , Rahul Rathakrishnan , Mingxue Jing , Jennifer Hung , Ching-Hui Sia , Benjamin YQ Tan , Hui Shi Lim , Megan BJ Ng , Leonard LL Yeo , Joshua YP Yeo

Background

Post-stroke epilepsy (PSE) is a complication of stroke and accounts for a large proportion of seizures in the elderly population. Moreover, it is associated with heightened morbidity and mortality, poor functional outcomes and longer hospital stays. The effect of haemorrhagic transformation (HT) of ischaemic strokes on the incidence of PSE is not well-understood.

Objectives

Our aim is to investigate how the incidence of PSE is affected by the presence of HT in adult patients with ischaemic stroke.

Methods

PubMed, Embase and Scopus were searched from inception to 26th August 2025 for studies on PSE and HT. Inclusion criteria included primary observational studies (cohort studies, case-control studies), adults > 18 years old, ischaemic stroke, and PSE. The odds ratio of PSE incidence in patients with and without HT was evaluated using a random effects model. Our study was registered with PROSPERO (CRD42024610806).

Results

A total of 8 studies were included in our analysis, including 7 cohort studies and 1 case control study, comprising a total of 4273 patients. The pooled prevalence of PSE in this cohort was 0.075 (95 % CI = 0.057, 0.095). HT significantly increased the incidence of PSE in ischaemic stroke patients (OR = 2.95, 95 % CI = 1.93, 4.50, p < 0.005).

Conclusion

Understanding how HT affects PSE incidence can help objectively quantify the morbidity from this complication. Future studies may include this outcome to guide the judicious use of thrombolytic reperfusion therapy in ischaemic stroke.
背景:脑卒中后癫痫(PSE)是脑卒中的一种并发症,在老年人癫痫发作中占很大比例。此外,它还与较高的发病率和死亡率、较差的功能预后和较长的住院时间有关。缺血性卒中的出血性转化(HT)对PSE发病率的影响尚不清楚。目的:我们的目的是研究成年缺血性脑卒中患者中HT的存在对PSE发病率的影响。方法:检索PubMed、Embase和Scopus自成立至2025年8月26日关于PSE和HT的研究。纳入标准包括主要观察性研究(队列研究、病例对照研究)、18岁以下成人、缺血性卒中和PSE。采用随机效应模型评估HT患者和非HT患者PSE发生率的优势比。我们的研究已在PROSPERO注册(CRD42024610806)。结果:我们共纳入8项研究,包括7项队列研究和1项病例对照研究,共纳入4273例患者。该队列中PSE的总患病率为0.075 (95% CI = 0.057, 0.095)。HT显著增加缺血性脑卒中患者PSE的发生率(OR = 2.95, 95% CI = 1.93, 4.50, p < 0.005)。结论:了解HT对PSE发病率的影响有助于客观量化PSE并发症的发病率。未来的研究可能包括这一结果,以指导在缺血性脑卒中中明智地使用溶栓再灌注治疗。
{"title":"Association between haemorrhagic transformation in acute ischaemic strokes and incidence of post-stroke epilepsy: A systematic review and meta-analysis","authors":"Nicholas Goh ,&nbsp;Karthikeyan Saravanan ,&nbsp;Mya Thee Char Tin Oo ,&nbsp;Evan Michael NEO Ren Jie ,&nbsp;Rahul Rathakrishnan ,&nbsp;Mingxue Jing ,&nbsp;Jennifer Hung ,&nbsp;Ching-Hui Sia ,&nbsp;Benjamin YQ Tan ,&nbsp;Hui Shi Lim ,&nbsp;Megan BJ Ng ,&nbsp;Leonard LL Yeo ,&nbsp;Joshua YP Yeo","doi":"10.1016/j.seizure.2025.09.014","DOIUrl":"10.1016/j.seizure.2025.09.014","url":null,"abstract":"<div><h3>Background</h3><div>Post-stroke epilepsy (PSE) is a complication of stroke and accounts for a large proportion of seizures in the elderly population. Moreover, it is associated with heightened morbidity and mortality, poor functional outcomes and longer hospital stays. The effect of haemorrhagic transformation (HT) of ischaemic strokes on the incidence of PSE is not well-understood.</div></div><div><h3>Objectives</h3><div>Our aim is to investigate how the incidence of PSE is affected by the presence of HT in adult patients with ischaemic stroke.</div></div><div><h3>Methods</h3><div>PubMed, Embase and Scopus were searched from inception to 26th August 2025 for studies on PSE and HT. Inclusion criteria included primary observational studies (cohort studies, case-control studies), adults &gt; 18 years old, ischaemic stroke, and PSE. The odds ratio of PSE incidence in patients with and without HT was evaluated using a random effects model. Our study was registered with PROSPERO (CRD42024610806).</div></div><div><h3>Results</h3><div>A total of 8 studies were included in our analysis, including 7 cohort studies and 1 case control study, comprising a total of 4273 patients. The pooled prevalence of PSE in this cohort was 0.075 (95 % CI = 0.057, 0.095). HT significantly increased the incidence of PSE in ischaemic stroke patients (OR = 2.95, 95 % CI = 1.93, 4.50, <em>p</em> &lt; 0.005).</div></div><div><h3>Conclusion</h3><div>Understanding how HT affects PSE incidence can help objectively quantify the morbidity from this complication. Future studies may include this outcome to guide the judicious use of thrombolytic reperfusion therapy in ischaemic stroke.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"133 ","pages":"Pages 96-105"},"PeriodicalIF":2.8,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145349554","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
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 Pub 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
Clinical and radiological evaluation of children with hemimegalencephaly and epilepsy: A single-center study 儿童半巨脑畸形和癫痫的临床和影像学评价:一项单中心研究。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-09-17 DOI: 10.1016/j.seizure.2025.09.011
Ceren Günbey , Kader Karlı Oğuz , Burçak Bilginer , Ülkühan Öztoprak , Fatma Ilgaz , Nejat Akalan , Meral Topçu , Güzide Turanlı , Dilek Yalnızoğlu

Purpose

Hemimegalencephaly (HME) is characterized by severe seizures, cognitive impairment, and unilateral motor deficits. This study aimed to evaluate the clinical features, electroencephalogram (EEG) and neuroimaging findings along with treatment outcomes in pediatric epilepsy patients diagnosed with HME.

Methods

A retrospective review was conducted on 14 pediatric epilepsy patients with HME, encompassing clinical data, video-EEG findings, neuroradiological assessments and treatment outcome.

Results

The study revealed a predominance of left-sided HME (11/14) and syndromic presentations in three patients. The median age of seizure onset was within the first day of life (range: 0–225 days). The median follow-up duration was 30 months (3–72 months). All patients experienced daily seizures. At the time of evaluation, 11 patients were on three or more antiseizure medications. Adjunctive therapies included ketogenic diet in four patients, mTOR inhibitors in two patients, and a combination of both in one patient. Ictal recordings were obtained in 13 patients, with two patients exhibiting bilateral independent ictal onset. All but one patient demonstrated refractory seizures on follow-up. Six patients (42.8 %) underwent epilepsy surgery, resulting in seizure freedom in three cases (50 %) and a mild reduction in seizure frequency in one. Two patients experienced intraoperative hemorrhage, resulting in monthly seizures and postoperative mortality, each in one patient.

Conclusion

Hemimegalencephaly represents a challenging etiology in refractory epilepsy of early childhood. Given the limited efficacy of pharmacological modalities, epilepsy surgery seems to be the only effective treatment option for seizure control in these young patients, however, carries significant risks for mortality and morbidity.
目的:半巨脑畸形(HME)以严重癫痫发作、认知障碍和单侧运动缺陷为特征。本研究旨在评估诊断为HME的儿童癫痫患者的临床特征、脑电图(EEG)和神经影像学表现以及治疗结果。方法:回顾性分析14例小儿癫痫伴HME患者的临床资料、视频脑电图、神经影像学评价及治疗结果。结果:研究显示3例患者以左侧HME(11/14)和综合征表现为主。癫痫发作的中位年龄在出生第一天内(范围:0-225天)。中位随访时间为30个月(3-72个月)。所有患者每天都有癫痫发作。在评估时,11名患者服用了三种或三种以上的抗癫痫药物。辅助治疗包括4名患者的生酮饮食,2名患者的mTOR抑制剂,以及1名患者的两者结合。13例患者获得了起搏记录,其中2例患者表现为双侧独立起搏。在随访中,除一名患者外,所有患者均表现出难治性癫痫发作。6例(42.8%)患者接受了癫痫手术,其中3例(50%)患者癫痫发作自由,1例患者癫痫发作频率轻度降低。2例患者出现术中出血,导致每月癫痫发作和术后死亡,各1例。结论:半巨脑畸形是儿童早期难治性癫痫的一个具有挑战性的病因。鉴于药物治疗的有效性有限,癫痫手术似乎是这些年轻患者控制癫痫发作的唯一有效治疗选择,然而,手术具有显著的死亡率和发病率风险。
{"title":"Clinical and radiological evaluation of children with hemimegalencephaly and epilepsy: A single-center study","authors":"Ceren Günbey ,&nbsp;Kader Karlı Oğuz ,&nbsp;Burçak Bilginer ,&nbsp;Ülkühan Öztoprak ,&nbsp;Fatma Ilgaz ,&nbsp;Nejat Akalan ,&nbsp;Meral Topçu ,&nbsp;Güzide Turanlı ,&nbsp;Dilek Yalnızoğlu","doi":"10.1016/j.seizure.2025.09.011","DOIUrl":"10.1016/j.seizure.2025.09.011","url":null,"abstract":"<div><h3>Purpose</h3><div>Hemimegalencephaly (HME) is characterized by severe seizures, cognitive impairment, and unilateral motor deficits. This study aimed to evaluate the clinical features, electroencephalogram (EEG) and neuroimaging findings along with treatment outcomes in pediatric epilepsy patients diagnosed with HME.</div></div><div><h3>Methods</h3><div>A retrospective review was conducted on 14 pediatric epilepsy patients with HME, encompassing clinical data, video-EEG findings, neuroradiological assessments and treatment outcome.</div></div><div><h3>Results</h3><div>The study revealed a predominance of left-sided HME (11/14) and syndromic presentations in three patients. The median age of seizure onset was within the first day of life (range: 0–225 days). The median follow-up duration was 30 months (3–72 months). All patients experienced daily seizures. At the time of evaluation, 11 patients were on three or more antiseizure medications. Adjunctive therapies included ketogenic diet in four patients, <em>mTOR</em> inhibitors in two patients, and a combination of both in one patient. Ictal recordings were obtained in 13 patients, with two patients exhibiting bilateral independent ictal onset. All but one patient demonstrated refractory seizures on follow-up. Six patients (42.8 %) underwent epilepsy surgery, resulting in seizure freedom in three cases (50 %) and a mild reduction in seizure frequency in one. Two patients experienced intraoperative hemorrhage, resulting in monthly seizures and postoperative mortality, each in one patient.</div></div><div><h3>Conclusion</h3><div>Hemimegalencephaly represents a challenging etiology in refractory epilepsy of early childhood. Given the limited efficacy of pharmacological modalities, epilepsy surgery seems to be the only effective treatment option for seizure control in these young patients, however, carries significant risks for mortality and morbidity.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"132 ","pages":"Pages 186-191"},"PeriodicalIF":2.8,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145207770","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
Delivery of care, anti-seizure medication adherence and factors affecting seizure outcomes in women with epilepsy during pregnancy: a retrospective cohort study 妊娠期癫痫患者的护理交付、抗癫痫药物依从性和影响癫痫发作结局的因素:一项回顾性队列研究
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-09-14 DOI: 10.1016/j.seizure.2025.09.009
AD Marshall , A Askariah , S Yule , D Fyfe , R Hassett , J Todd , S MacBride-Stewart , SEF Nichol , L Stephen , D Mackay , CA Heath

Objective

The rate of maternal mortality and obstetric complications amongst women with epilepsy during pregnancy is higher than that of the general population. The reason for this remains unclear but poor access to epilepsy specialist in a timely manner, poor medication adherence and falling levels of ASM are often stated within the published literature. We aim to explore whether this assumption is correct and consider the influence that clinical and epidemiological factors have on outcomes.

Methods

Pregnant women with epilepsy were identified between January 2015 and June 2022 from the local obstetric register. Key clinical features were identified following a manual review of patient records. Demographic information, scheduled and unscheduled secondary care contact, maternity care and medication dispensing history were obtained from routinely collected health datasets. An adverse outcome was defined as a reported seizure or epilepsy-related hospital contact during pregnancy or within 12-weeks postpartum.

Results

We identified 458 pregnancies from 336 WWE. An adverse epilepsy related outcome was observed in 212/458 (46%) pregnancies. Review during the pre-booking period was noted in 189/458 (41.2%) cases and during pregnancy in 302/458 (65.9%). The most common ASM monotherapy was levetiracetam (LVT)(152/285 pregnancies, 53.3%) followed by lamotrigine (LTG) (110/285 pregnancies, 38.6%). Overall, exposure to polytherapy, LTG exposure, a seizure during the preconception period and low socioeconomic status were associated with an adverse outcome.

Conclusion

An epilepsy related admission or reported seizure was commonly experienced in WWE during pregnancy and in a small proportion of women this came after a period of seizure freedom. There is much work to be done to improve outcomes in women with epilepsy during pregnancy and the low rates of pre-conception care remain a concern. Routine preconception care would potentially allow complex issues such as ASM adherence, potential falling levels of ASM in pregnancy, driving and teratogenicity to be considered. Although seizure freedom is not possible for a significant proportion of women (both during the preconception period and pregnancy) early review in the preconception period and throughout pregnancy is likely to ensure epilepsy control is optimum and all potentially modifiable factors are considered.
目的妊娠期癫痫患者的产妇死亡率和产科并发症发生率高于一般人群。造成这种情况的原因尚不清楚,但在已发表的文献中经常提到,难以及时获得癫痫专科医生的治疗,药物依从性差以及ASM水平下降。我们的目的是探讨这一假设是否正确,并考虑临床和流行病学因素对结果的影响。方法选取2015年1月至2022年6月在当地产科登记中发现的癫痫孕妇。主要的临床特征是在对患者记录进行人工审查后确定的。从常规收集的健康数据集中获得人口统计信息、预定和非预定的二级保健接触、产妇保健和药物配药史。不良结果定义为妊娠期间或产后12周内报告的癫痫发作或与癫痫相关的医院接触。结果我们从336例WWE中确定了458例妊娠。458例妊娠中有212例(46%)出现癫痫相关不良结局。189/458例(41.2%)和302/458例(65.9%)在预约前进行了复查。最常见的ASM单药治疗是左乙拉西坦(LVT)(152/285例妊娠,53.3%),其次是拉莫三嗪(LTG)(110/285例妊娠,38.6%)。总体而言,暴露于多种治疗、LTG暴露、孕前发作和低社会经济地位与不良结果相关。结论癫痫相关入院或癫痫发作在妊娠期WWE患者中很常见,并且在一小部分妇女中癫痫发作是在一段时间后发生的。要改善怀孕期间癫痫妇女的预后,还有很多工作要做,孕前护理率低仍然是一个令人关切的问题。常规的孕前护理可能会考虑到一些复杂的问题,如ASM依从性、妊娠期ASM可能下降的水平、驾驶和致畸性。虽然很大一部分妇女(孕前和怀孕期间)不可能不癫痫发作,但在孕前和整个怀孕期间进行早期检查可能确保癫痫控制达到最佳状态,并考虑到所有可能改变的因素。
{"title":"Delivery of care, anti-seizure medication adherence and factors affecting seizure outcomes in women with epilepsy during pregnancy: a retrospective cohort study","authors":"AD Marshall ,&nbsp;A Askariah ,&nbsp;S Yule ,&nbsp;D Fyfe ,&nbsp;R Hassett ,&nbsp;J Todd ,&nbsp;S MacBride-Stewart ,&nbsp;SEF Nichol ,&nbsp;L Stephen ,&nbsp;D Mackay ,&nbsp;CA Heath","doi":"10.1016/j.seizure.2025.09.009","DOIUrl":"10.1016/j.seizure.2025.09.009","url":null,"abstract":"<div><h3>Objective</h3><div>The rate of maternal mortality and obstetric complications amongst women with epilepsy during pregnancy is higher than that of the general population. The reason for this remains unclear but poor access to epilepsy specialist in a timely manner, poor medication adherence and falling levels of ASM are often stated within the published literature. We aim to explore whether this assumption is correct and consider the influence that clinical and epidemiological factors have on outcomes.</div></div><div><h3>Methods</h3><div>Pregnant women with epilepsy were identified between January 2015 and June 2022 from the local obstetric register. Key clinical features were identified following a manual review of patient records. Demographic information, scheduled and unscheduled secondary care contact, maternity care and medication dispensing history were obtained from routinely collected health datasets. An adverse outcome was defined as a reported seizure or epilepsy-related hospital contact during pregnancy or within 12-weeks postpartum.</div></div><div><h3>Results</h3><div>We identified 458 pregnancies from 336 WWE. An adverse epilepsy related outcome was observed in 212/458 (46%) pregnancies. Review during the pre-booking period was noted in 189/458 (41.2%) cases and during pregnancy in 302/458 (65.9%). The most common ASM monotherapy was levetiracetam (LVT)(152/285 pregnancies, 53.3%) followed by lamotrigine (LTG) (110/285 pregnancies, 38.6%). Overall, exposure to polytherapy, LTG exposure, a seizure during the preconception period and low socioeconomic status were associated with an adverse outcome.</div></div><div><h3>Conclusion</h3><div>An epilepsy related admission or reported seizure was commonly experienced in WWE during pregnancy and in a small proportion of women this came after a period of seizure freedom. There is much work to be done to improve outcomes in women with epilepsy during pregnancy and the low rates of pre-conception care remain a concern. Routine preconception care would potentially allow complex issues such as ASM adherence, potential falling levels of ASM in pregnancy, driving and teratogenicity to be considered. Although seizure freedom is not possible for a significant proportion of women (both during the preconception period and pregnancy) early review in the preconception period and throughout pregnancy is likely to ensure epilepsy control is optimum and all potentially modifiable factors are considered.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"132 ","pages":"Pages 163-170"},"PeriodicalIF":2.8,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145158014","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
The spectrum of cognitive outcomes following admission to hospital for refractory status epilepticus (RSE): A scoping review 难治性癫痫持续状态(RSE)入院后的认知结果谱:一项范围综述。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-09-13 DOI: 10.1016/j.seizure.2025.09.010
Aiman Al Wahaibi , Karnig Kazazian , Margaret Gopaul , Alla Iansavitchene , Teneille E. Gofton

Background

Refractory status epilepticus (RSE) may have many different causes. Preventing neurological complications and controlling acute seizures are early priorities, but long-term cognitive consequences must also be considered.

Objective

The objective of this scoping review is to report the spectrum of outcomes following admission to hospital for RSE from all etiologies and to determine whether there is evidence to suggest that survivors of new-onset RSE (NORSE) have different cognitive outcomes compared to survivors of RSE of identified etiology.

Methods

Scoping review methodology was used for this study. A clinical librarian prepared the search strategy. Studies were eligible if they were original research reporting cognitive outcomes after RSE.

Results

2202 articles were identified, of which 2121 were excluded. After full text review, we included 14 studies. Studies were from 2005–2023 and included retrospective, prospective and case studies with a total of 323 patients from ages 1–80 years. Outcomes were similar across studies, but there was heterogeneity with respect to tests used and timing of outcome measurement. Most pediatric reports were in survivors of NORSE and a minority of pediatric survivors return to baseline, with a large proportion of survivors having intellectual disability ranging from mild to severe. Outcomes were less consistent across adult survivors, with some having minimal cognitive impairment and others reporting that no previously employed patients returning to employment.

Conclusion

Current approaches to cognitive assessment in survivors of RSE are highly variable. A large proportion of survivors had impairment in greater than one cognitive domain. Future research should focus on using age-appropriate, domain-specific tools administered at defined timepoints post-RSE.
背景:难治性癫痫持续状态(RSE)可能有许多不同的原因。预防神经系统并发症和控制急性发作是早期的重点,但也必须考虑长期的认知后果。目的:本综述的目的是报告所有病因的RSE入院后的预后谱,并确定是否有证据表明新发RSE (NORSE)的幸存者与已确定病因的RSE幸存者相比具有不同的认知结局。方法:本研究采用范围综述方法。临床图书管理员准备了搜索策略。如果研究是报告RSE后认知结果的原始研究,则符合条件。结果:共鉴定出2202篇文章,其中2121篇被排除。全文审阅后,我们纳入了14项研究。研究时间为2005-2023年,包括回顾性、前瞻性和病例研究,共有323名年龄在1-80岁之间的患者。各研究的结果相似,但在使用的测试和结果测量的时间方面存在异质性。大多数儿童报告是NORSE的幸存者,少数儿童幸存者恢复到基线,大部分幸存者患有轻度到重度的智力残疾。成年幸存者的结果不太一致,一些人有最小的认知障碍,另一些人报告说,以前就业的患者没有重返就业岗位。结论:目前对RSE幸存者的认知评估方法是高度可变的。很大一部分幸存者在一个以上的认知领域有损伤。未来的研究应该集中在使用适合年龄的、特定于领域的工具,在rse后的定义时间点进行管理。
{"title":"The spectrum of cognitive outcomes following admission to hospital for refractory status epilepticus (RSE): A scoping review","authors":"Aiman Al Wahaibi ,&nbsp;Karnig Kazazian ,&nbsp;Margaret Gopaul ,&nbsp;Alla Iansavitchene ,&nbsp;Teneille E. Gofton","doi":"10.1016/j.seizure.2025.09.010","DOIUrl":"10.1016/j.seizure.2025.09.010","url":null,"abstract":"<div><h3>Background</h3><div>Refractory status epilepticus (RSE) may have many different causes. Preventing neurological complications and controlling acute seizures are early priorities, but long-term cognitive consequences must also be considered.</div></div><div><h3>Objective</h3><div>The objective of this scoping review is to report the spectrum of outcomes following admission to hospital for RSE from all etiologies and to determine whether there is evidence to suggest that survivors of new-onset RSE (NORSE) have different cognitive outcomes compared to survivors of RSE of identified etiology.</div></div><div><h3>Methods</h3><div>Scoping review methodology was used for this study. A clinical librarian prepared the search strategy. Studies were eligible if they were original research reporting cognitive outcomes after RSE.</div></div><div><h3>Results</h3><div>2202 articles were identified, of which 2121 were excluded. After full text review, we included 14 studies. Studies were from 2005–2023 and included retrospective, prospective and case studies with a total of 323 patients from ages 1–80 years. Outcomes were similar across studies, but there was heterogeneity with respect to tests used and timing of outcome measurement. Most pediatric reports were in survivors of NORSE and a minority of pediatric survivors return to baseline, with a large proportion of survivors having intellectual disability ranging from mild to severe. Outcomes were less consistent across adult survivors, with some having minimal cognitive impairment and others reporting that no previously employed patients returning to employment.</div></div><div><h3>Conclusion</h3><div>Current approaches to cognitive assessment in survivors of RSE are highly variable. A large proportion of survivors had impairment in greater than one cognitive domain. Future research should focus on using age-appropriate, domain-specific tools administered at defined timepoints post-RSE.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"132 ","pages":"Pages 154-160"},"PeriodicalIF":2.8,"publicationDate":"2025-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145092891","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
New onset of comorbidities in people with epilepsy in a national healthcare claims database 国家医疗索赔数据库中癫痫患者新发合并症。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-09-12 DOI: 10.1016/j.seizure.2025.09.008
Edward Faught , Emily Klatte , Clarence T. Wade , Sean Stern , Wesley T. Kerr

Purpose

This study evaluated the rate of new occurrence of select comorbidities in adults after events of uncontrolled epilepsy versus controlled epilepsy.

Methods

The HealthVerity Marketplace Inovalon healthcare claims database was used. Adults (≥18 years) with an epilepsy diagnosis (ICD-10-CM G40*) prescribed at least one antiseizure medication (ASM) between January 1, 2015, and December 31, 2021, were included. Patients were categorized as having either a first-filled or third-filled ASM. The first ASM filled was defined as no ASMs filled for at least 1 year of enrollment. Uncontrolled epilepsy events within 1 year of new ASM initiation were: seizure-related inpatient or emergency room visit or initiation of subsequent ASM. Patients with uncontrolled and controlled epilepsy were propensity score matched. Time to first new comorbidity was measured for cardiac/metabolic, neuropsychiatric, and neurologic disorders.

Results

First-filled ASM start date was identified for 78,714 patients with epilepsy, 64,031 of whom received a third ASM. Most patients had an uncontrolled epilepsy event within the first year after first-filled (57%) ASM initiation and after third-filled (56%) ASM initiation. The rate of most neuropsychiatric and neurologic comorbidities was higher among patients with uncontrolled epilepsy during first-filled and third-filled ASM. The rate of most cardiac/metabolic comorbidities was higher among patients with uncontrolled epilepsy after third-filled ASM initiation; however, these comorbidities were more common in controlled epilepsy during first-filled ASM.

Conclusion

Patients with uncontrolled epilepsy had a higher rate of new-onset comorbidities. These results indicated that seizure control may influence the non-seizure impacts of epilepsy.
目的:本研究评估成人未控制癫痫与控制癫痫事件后新发的合并症发生率。方法:采用HealthVerity Marketplace invalon医疗索赔数据库。在2015年1月1日至2021年12月31日期间,被诊断为癫痫(ICD-10-CM G40*)且至少服用一种抗癫痫药物(ASM)的成人(≥18岁)被纳入研究。患者分为第一次填充ASM和第三次填充ASM。第一个ASM填写的定义为至少1年内没有ASM填写。新ASM开始的1年内未控制的癫痫事件包括:癫痫相关的住院或急诊室就诊或后续ASM的开始。控制和不控制癫痫患者倾向评分匹配。测量心脏/代谢、神经精神和神经障碍首次出现新共病的时间。结果:78,714例癫痫患者确定了首次填充的ASM开始日期,其中64,031例接受了第三次ASM。大多数患者在第一次填充ASM开始(57%)和第三次填充ASM开始(56%)后的一年内发生不受控制的癫痫事件。大多数神经精神和神经系统合并症的发生率在第一次和第三次癫痫发作期间不受控制的癫痫患者中较高。在第三次填充ASM开始后未控制的癫痫患者中,大多数心脏/代谢合并症的发生率较高;然而,这些合并症在首次填充ASM期间的控制癫痫中更为常见。结论:未控制癫痫患者新发合并症发生率较高。这些结果表明,癫痫发作控制可能影响癫痫的非发作性影响。
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引用次数: 0
Prediction of evolution to epilepsy or genetic epilepsy with febrile seizures plus (GEFS+) in children presenting with febrile seizures: a retrospective multicenter longitudinal study 预测发展为癫痫或遗传性癫痫伴热性癫痫发作(GEFS+)的儿童表现为热性癫痫发作:一项回顾性多中心纵向研究。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-09-10 DOI: 10.1016/j.seizure.2025.09.006
Pietro Baso , Silvia Masnada , Monica Maria Lodi , Federica Teutonico , Aglaia Vignoli , Emilia Ricci , Maria Paola Canevini , Francesca Brustia , Maurizio Viri , Cristina Cereda , Luca Lalli , Simona Ferraro , Pierangelo Veggiotti

Objectives

To identify possible predictors of progression from febrile seizures to epilepsy or genetic epilepsy with febrile seizures plus (GEFS+), and to evaluate the management of febrile seizures in Italian clinical settings.

Methods

231 children with complex febrile seizures, febrile status epilepticus, or recurrent episodes of simple febrile seizures requiring therapy or follow-up, were recruited from four different hospitals. At the baseline evaluation and during follow-up, data were collected regarding each child’s febrile seizures (number, duration, triggers, clinical characteristics), psychomotor development, possible neuropsychiatric comorbidities, any family history of neuropsychiatric disorders, as well as findings of electroencephalographic evaluation (EEG), diagnostic tests, and prescribed treatments. The data were analyzed using Mann-Whitney and Fisher tests, and univariate and multivariate logistic models.

Results

A family history of epilepsy, a higher absolute number of episodes, an older age at onset of febrile seizures, and the presence of afebrile seizures were found to be factors associated with an increased risk of developing epilepsy or GEFS+. Conversely, a normal EEG at onset and an increase in the number of simple febrile seizures or of complex febrile seizures occurring within the first 24 h were associated with a lower risk.

Conclusions

This study provides previously unreported evidence relevant to the prediction of epilepsy or GEFS+ in patients with febrile seizures, which may facilitate the identification of new prognostic factors. It also highlights concerns regarding the current national and international guidelines on febrile seizures.
目的:确定从热性癫痫发作到癫痫或遗传性癫痫伴热性癫痫发作(GEFS+)进展的可能预测因素,并评估意大利临床环境中热性癫痫发作的管理。方法:从四家不同的医院招募了231名需要治疗或随访的复杂热性惊厥、热性癫痫持续状态或单纯热性惊厥反复发作的儿童。在基线评估和随访期间,收集了有关每个儿童的发热性癫痫发作(次数、持续时间、触发因素、临床特征)、精神运动发展、可能的神经精神合并症、任何神经精神疾病家族史以及脑电图评估(EEG)、诊断测试和处方治疗结果的数据。采用Mann-Whitney和Fisher检验、单变量和多变量logistic模型对数据进行分析。结果:癫痫家族史、较高的绝对发作次数、发热性癫痫发作的年龄以及发热性癫痫发作的存在被发现是癫痫或GEFS+风险增加的相关因素。相反,起病时脑电图正常,24小时内单纯发热性惊厥或复杂发热性惊厥次数增加则与较低的风险相关。结论:本研究提供了以前未报道的与热性惊厥患者癫痫或GEFS+预测相关的证据,这可能有助于识别新的预后因素。它还强调了对当前关于热性惊厥的国家和国际指南的关注。
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引用次数: 0
Adjunctive brexpiprazole for treatment-resistant functional/dissociative seizures 辅助布雷哌唑治疗难治性功能/解离性癫痫。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-09-09 DOI: 10.1016/j.seizure.2025.09.007
Ryo Mitoma, Shogo Hirano, Tomohiro Nakao
{"title":"Adjunctive brexpiprazole for treatment-resistant functional/dissociative seizures","authors":"Ryo Mitoma,&nbsp;Shogo Hirano,&nbsp;Tomohiro Nakao","doi":"10.1016/j.seizure.2025.09.007","DOIUrl":"10.1016/j.seizure.2025.09.007","url":null,"abstract":"","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"132 ","pages":"Pages 161-162"},"PeriodicalIF":2.8,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145103159","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
Long-term seizure outcomes and the likelihood of antiseizure medication withdrawal in patients with juvenile absence epilepsy: A 10-year follow-up study 青少年缺失性癫痫患者的长期发作结局和停药可能性:一项10年随访研究
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-09-06 DOI: 10.1016/j.seizure.2025.09.005
Xiaoli Wang , Xinbo Zhang , Jingya Wei , Chenwei Li , Yuanhang Pan, Gengyao Hu, Min Li, Wenjuan Zhang, Yong-Hong Liu

Background and Objective

Juvenile absence epilepsy is a common idiopathic generalized epilepsy syndrome that often requires long-term antiseizure medications (ASMs). However, it remains unclear whether and when such long-term medication is necessary. In this study, we aimed to explore the long-term seizure outcomes and the feasibility of ASMs withdrawal in patients with JAE. Additionally, we aimed to investigate the evolution of EEG patterns over time.

Methods

We conducted a retrospective study on patients diagnosed with JAE according to the 2022 ILAE at Xijing Hospital between March 2014 and Dec 2024. We performed a retrospective review of their 24-h video-EEG recordings for seizure semiology and EEG pattern. Patient demographics, baseline clinical characteristics, and treatment details were extracted from clinical charts and electronic health records. All further follow-up visits were either through telemedicine or in-person visits.

Results

This retrospective study included 58 patients diagnosed with JAE, with a mean age at epilepsy onset of 11.86 ± 3.87 years. The median follow-up duration was 9.57 years (range, 3–27 years). Among these patients, 38 (65.5 %) achieved seizure freedom for at least 2 years. Treatment with valproate was identified as an independent predictor of a favorable outcome in terms of seizure freedom. Conversely, the total number of generalized tonic-clonic seizures experienced, presence of absence seizures on follow-up EEG and the persistence of hyperventilation positivity on EEG were associated with an unfavorable outcome regarding seizure freedom. Among the 38 patients, 25 (65.8 %) did not experience seizure recurrence. ASMs withdrawal was attempted in 28 patients (48.3 %) and 18 of them did not experience seizure recurrence during the tapering process. Among these 18 patients, ASMs were discontinued in 9 patients at the last follow-up.
The age of onset (p = 0.040) and age at last follow up (p = 0.044) were associated with seizure recurrence. After a median EEG follow-up period of 6 years, abnormal EEG improved in 34 of the 58 patients (58.6 %). Additionally, 14 of the 58 patients (24.1 %) had normal EEG in subsequent recordings.

Conclusion

Seizures were effectively controlled with ASMs in most patients with JAE, and a significant proportion of patients were able to attempt ASMs withdrawal without experiencing seizure recurrence. Additionally, EEG patterns of GSWD improved on follow-up EEGs for the majority of patients.
背景与目的青少年癫痫缺失是一种常见的特发性全身性癫痫综合征,通常需要长期抗癫痫药物治疗。然而,目前尚不清楚是否以及何时需要这种长期药物治疗。在这项研究中,我们的目的是探讨长期癫痫发作的结果和停药的可行性。此外,我们的目的是研究脑电图模式随时间的演变。方法回顾性研究2014年3月至2024年12月在西京医院根据2022 ILAE诊断为JAE的患者。我们对他们的24小时视频脑电图记录进行了回顾性审查,以了解癫痫的符号学和脑电图模式。从临床图表和电子健康记录中提取患者人口统计数据、基线临床特征和治疗细节。所有进一步的随访都是通过远程医疗或亲自就诊。结果本研究纳入了58例确诊为JAE的患者,平均癫痫发病年龄为11.86±3.87岁。中位随访时间为9.57年(范围3-27年)。其中38例(65.5%)癫痫发作至少2年无发作。丙戊酸治疗被认为是癫痫发作自由的独立预测因子。相反,全身性强直-阵挛性发作的总次数、随访脑电图上出现的失神性发作以及脑电图上持续的过度通气阳性与癫痫发作自由的不利结果相关。38例患者中,25例(65.8%)未发生癫痫复发。28例(48.3%)患者尝试停药,其中18例在逐渐减少的过程中没有癫痫复发。在这18例患者中,有9例患者在最后一次随访时停用了asm。发病年龄(p = 0.040)和最后随访年龄(p = 0.044)与癫痫复发相关。中位随访6年后,58例患者中有34例(58.6%)EEG异常改善。此外,58例患者中有14例(24.1%)在随后的记录中脑电图正常。结论绝大多数JAE患者的癫痫发作均能得到有效控制,且有相当比例的患者能够尝试停药而不复发。此外,GSWD的脑电图模式在大多数患者的随访脑电图中有所改善。
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引用次数: 0
期刊
Seizure-European Journal of Epilepsy
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