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MRI techniques for detecting focal cortical dysplasia: A systematic review MRI技术检测局灶性皮质发育不良:系统综述。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-01 Epub Date: 2026-01-06 DOI: 10.1016/j.seizure.2026.01.003
Alastair Snell , Jiaxin Du , Viktor Vegh , David Reutens

Background

MRI is the cornerstone for detecting and characterising focal cortical dysplasia (FCD), a leading cause of drug-resistant epilepsy. Accurate identification of FCD is critical, as MRI-positive patients have markedly better surgical and clinical outcomes. However, lesion detection can be challenging, particularly in subtle or MRI-negative cases, and a range of MRI techniques has been developed to improve diagnostic performance.

Methods

PubMed, Embase, Scopus, and Web of Science were searched up to April 2025. Diagnostic accuracy studies comparing MRI findings with histopathology or multidisciplinary consensus were retained. 68 studies satisfied eligibility; data extraction was performed, and risk of bias was assessed with QUADAS-2. Marked methodological and outcome heterogeneity precluded meta-analysis, so results were synthesised narratively.

Results

Conventional 1.5T/3T protocols incorporating 3D-T1 and FLAIR were reported to identify most type II lesions, with sensitivities of 50–91 %. At 7T, additional lesions, due partially to the characteristic “black-line” sign, were detected. Quantitative or specialised sequences and post-processing approaches enhanced detection in MRI-negative or type I/III cohorts. Across all patients, machine-learning classifiers yielded sensitivities of 74–93 % but exhibited wide-ranging specificities (34–100 %).

Conclusions

Based on these findings, a tiered diagnostic pathway is recommended: initial evaluation with standard MRI followed, when clinical suspicion persists, by high-field imaging and advanced quantitative or computational methods. Standard MRI detects most type II lesions, but advanced imaging and computational methods improve detection in MRI-negative or subtle cases; real-world implementation requires access, expertise, and standardised validation. Key limitations of the review were study heterogeneity, single-reviewer processes, and lack of consecutively case-sampled studies. The field would benefit from a multi-centre benchmark dataset of operated, histologically confirmed, seizure-free FCD patients, enabling fair head-to-head evaluation of detection methods.
背景:MRI是检测和表征局灶性皮质发育不良(FCD)的基础,FCD是耐药性癫痫的主要原因。准确识别FCD是至关重要的,因为mri阳性患者有明显更好的手术和临床结果。然而,病变检测可能具有挑战性,特别是在细微或MRI阴性的情况下,并且已经开发了一系列MRI技术来提高诊断性能。方法:检索截至2025年4月的PubMed、Embase、Scopus和Web of Science。保留了比较MRI结果与组织病理学或多学科共识的诊断准确性研究。68项研究符合资格;进行数据提取,并使用QUADAS-2评估偏倚风险。显著的方法学和结果异质性妨碍了meta分析,因此结果是叙述性综合的。结果:据报道,结合3D-T1和FLAIR的传统1.5T/3T方案可识别大多数II型病变,敏感性为50- 91%。在7T时,由于特征性的“黑线”征象,检测到额外的病变。定量或专门序列和后处理方法增强了mri阴性或I/III型队列的检测。在所有患者中,机器学习分类器的敏感性为74- 93%,但表现出广泛的特异性(34- 100%)。结论:基于这些发现,建议采用分层诊断途径:采用标准MRI进行初步评估,当临床怀疑仍然存在时,采用高场成像和先进的定量或计算方法。标准MRI可检测大多数II型病变,但先进的成像和计算方法可改善MRI阴性或细微病例的检测;现实世界的实现需要访问权限、专业知识和标准化验证。该综述的主要局限性是研究异质性、单一评价过程和缺乏连续的病例抽样研究。该领域将受益于手术、组织学证实、无癫痫发作的FCD患者的多中心基准数据集,从而能够对检测方法进行公平的正面评估。
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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 : 2026-02-01 Epub 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
Prehospital management of convulsive status epilepticus in children: a knowledge, attitude and practice survey of UK ambulance service clinicians 儿童惊厥癫痫持续状态的院前管理:英国救护车服务临床医生的知识、态度和实践调查
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-01 Epub Date: 2026-01-23 DOI: 10.1016/j.seizure.2026.01.013
Zakariya Vansoh , Rachael Fothergill , Fiona Bell , Ria Osborne , Andy Rosser , Caitlin Wilson , Jacqueline Stephen , Richard F. Chin , National Ambulance Research Steering Group

Purpose

Childhood convulsive status epilepticus (CSE) is a time-critical emergency (incidence 17-23/100,000/yr) requiring prompt treatment to reduce morbidity and mortality. Prehospital midazolam is as safe as diazepam, but more effective. However, legal and logistical barriers limit its use by paramedics. We performed a UK-wide survey of current practice, perceived barriers, and views on intramuscular midazolam (IMMDZ) to inform service development, gauge interest in a potential ambulance-based trial of emergency treatment of childhood CSE and identify opinions to consider in trial study design.

Methods

We conducted a cross-sectional JISC Knowledge-Attitude-Practice survey of personnel across all 13 UK NHS Ambulance Services (21 May–30 June 2025). The survey captured demographics, first-line antiseizure medication (ASM) choices, operational challenges, knowledge of IMMDZ usage, and support for research.

Results

153 respondents across all 13 ambulance services (4–26/service) participated; 146 (95%) were paramedics (100 were generalist). Diazepam (by the rectal or intravenous route) was first-line ASM in nine services; buccal midazolam in three, and IMMDZ in one. 89% reported that alternative ASMs should be available to generalist paramedics. 97% supported research on IMMDZ for emergency treatment of childhood CSE. If approved, 85% thought their Trust would likely support its clinical use. Potential barriers to use included dosing uncertainty (53%), risk of respiratory depression (46%), inappropriate use (37%), and reticence of administering intramuscular medication (24%).

Conclusion

There is a need to standardize paramedic treatment of seizures in children in the UK. NHS Ambulance clinicians are supportive of investigating IMMDZ as prehospital treatment for childhood CSE.
儿童惊厥性癫痫持续状态(CSE)是一种时间紧迫的紧急情况(发病率17-23/100,000/年),需要及时治疗以降低发病率和死亡率。院前咪达唑仑和地西泮一样安全,但更有效。然而,法律和后勤障碍限制了护理人员使用它。我们进行了一项全英国范围内的关于肌内咪达唑仑(IMMDZ)的当前实践、感知障碍和观点的调查,以告知服务发展,衡量对儿童CSE急诊治疗的潜在救护车试验的兴趣,并确定在试验研究设计中要考虑的意见。方法:我们对所有13个英国NHS救护车服务机构的人员(2025年5月21日至6月30日)进行了一项横断面JISC知识-态度-实践调查。该调查包括人口统计数据、一线抗癫痫药物(ASM)选择、操作挑战、IMMDZ使用知识以及对研究的支持。结果:来自13个救护车服务机构的153名受访者(4-26人/项服务)参与了调查;146名(95%)是护理人员(100名是通才)。地西泮(直肠或静脉途径)是9种服务的一线ASM;3人服用口腔咪达唑仑,1人服用注射安定剂。89%的人报告说,全科护理人员应该有替代的asm。97%的人支持对儿童CSE的紧急治疗进行imdz研究。如果获得批准,85%的人认为他们的信任可能会支持它的临床应用。潜在的使用障碍包括剂量不确定(53%)、呼吸抑制风险(46%)、使用不当(37%)和不愿给肌内用药(24%)。结论英国有必要规范儿童癫痫发作的护理治疗。NHS救护车临床医生支持调查imdz作为儿童CSE院前治疗。
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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 : 2026-02-01 Epub 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。
{"title":"Nationwide registry-linked retrospective cohort study of Ganglioglioma in children and adults: Long-term follow-up of anti-seizure medication and mortality","authors":"Irena Grubor ,&nbsp;Maria Compagno Strandberg ,&nbsp;Johan Bengzon","doi":"10.1016/j.seizure.2026.01.002","DOIUrl":"10.1016/j.seizure.2026.01.002","url":null,"abstract":"<div><h3>Purpose</h3><div>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.</div></div><div><h3>Method</h3><div>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.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusions</h3><div>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.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"135 ","pages":"Pages 4-10"},"PeriodicalIF":2.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145928434","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
Comparative efficacy of the classical ketogenic diet and modified Atkins diet in children with drug-resistant epilepsy: A systematic review and meta-analysis 经典生酮饮食和改良阿特金斯饮食对耐药癫痫患儿的比较疗效:系统回顾和荟萃分析
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-01 Epub Date: 2026-01-24 DOI: 10.1016/j.seizure.2026.01.014
Mohammad A. Sharaf , Marwa Hosni Abdelhamed , Marwa Salah , Shaimaa Gad Ragheb Abdulbaki , Heba G.A. Ali

Objectives

Epilepsy is a common neurological disorder that can severely affect children's cognitive development and quality of life. While anti-seizure medications (ASM) are the first-line treatment, approximately 20–30% of pediatric patients experience drug-resistant epilepsy (DRE), necessitating alternative therapies. The classical ketogenic diet (CKD) and the modified Atkins diet (MAD) are two non-pharmacological interventions that have shown efficacy in reducing seizure frequency in children with DRE.

Methods

A meta-analysis included experimental and observational studies retrieved from relevant databases. It evaluated the efficacy of CKD and MAD in children with DRE. Data were extracted and analyzed using RevMan. A 3-month follow-up was used to measure all outcomes, whenever available; otherwise, the nearest reported time point was used.

Results

Eight studies were included in this meta-analysis. Both MAD and CKD were effective in treating drug-resistant epilepsy. CKD demonstrated a statistically significant advantage over MAD for achieving >50% seizure reduction (OR = 0.55, 95% CI: 0.35–0.87; P = 0.01). However, no statistically significant differences were observed between CKD and MAD for complete seizure freedom (100% reduction; OR = 0.72, 95% CI: 0.43–1.19) or >90% seizure reduction (OR = 0.87, 95% CI: 0.51–1.47). No statistically significant differences were found in lipid-related adverse effects or gastrointestinal symptoms, although MAD showed non-significant trends toward fewer cases of vomiting and constipation.

Conclusion

The CKD provides significant advantages in the management of drug-resistant epilepsy over the MAD, and CKD is more effective in reducing seizures at different levels.
目的癫痫是一种常见的神经系统疾病,严重影响儿童的认知发育和生活质量。虽然抗癫痫药物(ASM)是一线治疗方法,但大约20-30%的儿科患者患有耐药性癫痫(DRE),需要替代治疗。经典生酮饮食(CKD)和改良阿特金斯饮食(MAD)是两种非药物干预措施,在减少DRE患儿癫痫发作频率方面显示出疗效。方法meta分析包括从相关数据库中检索的实验和观察性研究。评估CKD和MAD在DRE患儿中的疗效。使用RevMan软件对数据进行提取和分析。3个月的随访用于测量所有结果,如果有的话;否则,使用最近的报告时间点。结果8项研究被纳入本荟萃分析。MAD和CKD治疗耐药癫痫均有效。CKD在癫痫发作减少50%方面比MAD有统计学上的显著优势(OR = 0.55, 95% CI: 0.35-0.87; P = 0.01)。然而,CKD和MAD在完全癫痫发作自由(100%减少;OR = 0.72, 95% CI: 0.43-1.19)或90%癫痫发作减少(OR = 0.87, 95% CI: 0.51-1.47)方面没有统计学上的显著差异。在脂质相关的不良反应或胃肠道症状方面没有发现统计学上的显著差异,尽管MAD显示出呕吐和便秘病例减少的非显著趋势。结论CKD在治疗耐药癫痫方面优于MAD,在不同程度上均能有效减少癫痫发作。
{"title":"Comparative efficacy of the classical ketogenic diet and modified Atkins diet in children with drug-resistant epilepsy: A systematic review and meta-analysis","authors":"Mohammad A. Sharaf ,&nbsp;Marwa Hosni Abdelhamed ,&nbsp;Marwa Salah ,&nbsp;Shaimaa Gad Ragheb Abdulbaki ,&nbsp;Heba G.A. Ali","doi":"10.1016/j.seizure.2026.01.014","DOIUrl":"10.1016/j.seizure.2026.01.014","url":null,"abstract":"<div><h3>Objectives</h3><div>Epilepsy is a common neurological disorder that can severely affect children's cognitive development and quality of life. While anti-seizure medications (ASM) are the first-line treatment, approximately 20–30% of pediatric patients experience drug-resistant epilepsy (DRE), necessitating alternative therapies. The classical ketogenic diet (CKD) and the modified Atkins diet (MAD) are two non-pharmacological interventions that have shown efficacy in reducing seizure frequency in children with DRE.</div></div><div><h3>Methods</h3><div>A meta-analysis included experimental and observational studies retrieved from relevant databases. It evaluated the efficacy of CKD and MAD in children with DRE. Data were extracted and analyzed using RevMan. A 3-month follow-up was used to measure all outcomes, whenever available; otherwise, the nearest reported time point was used.</div></div><div><h3>Results</h3><div>Eight studies were included in this meta-analysis. Both MAD and CKD were effective in treating drug-resistant epilepsy. CKD demonstrated a statistically significant advantage over MAD for achieving &gt;50% seizure reduction (OR = 0.55, 95% CI: 0.35–0.87; P = 0.01). However, no statistically significant differences were observed between CKD and MAD for complete seizure freedom (100% reduction; OR = 0.72, 95% CI: 0.43–1.19) or &gt;90% seizure reduction (OR = 0.87, 95% CI: 0.51–1.47). No statistically significant differences were found in lipid-related adverse effects or gastrointestinal symptoms, although MAD showed non-significant trends toward fewer cases of vomiting and constipation.</div></div><div><h3>Conclusion</h3><div>The CKD provides significant advantages in the management of drug-resistant epilepsy over the MAD, and CKD is more effective in reducing seizures at different levels.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"135 ","pages":"Pages 77-87"},"PeriodicalIF":2.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146078186","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
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 : 2026-02-01 Epub 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。
{"title":"An e-Delphi approach to develop a patient-reported outcome measure to assess functional/dissociative seizures severity","authors":"Gregg Harry Rawlings ,&nbsp;Laura Whitaker ,&nbsp;Chris Gaskell ,&nbsp;Markus Reuber","doi":"10.1016/j.seizure.2025.12.015","DOIUrl":"10.1016/j.seizure.2025.12.015","url":null,"abstract":"<div><h3>Objectives</h3><div>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.</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusions</h3><div>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.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"135 ","pages":"Pages 19-27"},"PeriodicalIF":2.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146012938","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
Evaluating epilepsy management in an onchocerciasis-endemic area: Case of Maridi, South Sudan 评估盘尾丝虫病流行地区的癫痫管理:南苏丹马里迪案例。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-01 Epub Date: 2024-05-06 DOI: 10.1016/j.seizure.2024.05.001
Olivia Kamoen , Stephen Raimon Jada , Jacopo Mattia Rovarini , Gasim Abd-Elfarag , Luís-Jorge Amaral , Yak Bol , Joseph Nelson Siewe Fodjo , Robert Colebunders

Purpose

The epilepsy prevalence in Maridi County, South Sudan, in 2018 was 43.8 (95% CI: 40.9–47.0) per 1000 persons; 85.2% of the identified persons with epilepsy (PWE) met the criteria of onchocerciasis-associated epilepsy. To address this health problem, an epilepsy clinic was established at Maridi County Hospital in 2020. In August 2023, the impact of the clinic on the lives of PWE and their families was evaluated.

Methods

At the Maridi epilepsy clinic, data routinely collected by primary healthcare workers as part of patient care was reviewed. We also analyzed findings from two household surveys conducted in 2018 and 2022, which assessed the impact of the clinic on epilepsy care. Moreover, four households, each with four PWE, were visited in a high epilepsy prevalence area. PWE were examined by a neurologist, and in-depth interviews were conducted with family members.

Results

The proportion of PWE on anti-seizure medication increased by 39.7% (95%CI: 35.3–44.2) between 2018 and 2022. The proportion of PWE reporting daily seizures decreased from 27.3% in 2018 to 5.3% in 2022. Of the 754 PWE seen in the clinic in July 2023, only 17 (2.3%) reported side effects. During household visits in July 2023, 13/173 (7.5%) of the visited PWE were found without remaining anti-seizure medication. A high level of epilepsy-related stigma was observed in all visited households.

Conclusion

The Maridi epilepsy clinic positively impacted the lives of PWE in Maridi. Similar initiatives should be accessible for all PWE living in onchocerciasis-endemic areas. Evidence-based information about OAE is needed to decrease misconceptions and epilepsy-related stigma.
目的:2018 年,南苏丹马里迪县的癫痫患病率为每千人 43.8 例(95% CI:40.9-47.0);85.2% 的已确认癫痫患者(PWE)符合盘尾丝虫病相关癫痫的标准。为解决这一健康问题,2020 年在马里迪县医院设立了癫痫诊所。2023 年 8 月,对该诊所对 PWE 及其家庭生活的影响进行了评估:在马里迪癫痫诊所,我们审查了初级卫生保健工作者在患者护理过程中收集的常规数据。我们还分析了 2018 年和 2022 年进行的两次家庭调查的结果,这些调查评估了诊所对癫痫护理的影响。此外,我们还在癫痫高发区走访了四个家庭,每个家庭有四名病患。神经科医生对患者进行了检查,并对其家庭成员进行了深入访谈:2018年至2022年期间,服用抗癫痫药物的PWE比例增加了39.7%(95%CI:35.3-44.2)。报告每日癫痫发作的PWE比例从2018年的27.3%降至2022年的5.3%。2023 年 7 月在诊所就诊的 754 名残疾人中,只有 17 人(2.3%)报告了副作用。在 2023 年 7 月的家访中,13/173(7.5%)名受访的 PWE 发现没有剩余的抗癫痫药物。在所有受访家庭中都发现了与癫痫相关的严重污名化现象:马里迪癫痫诊所对马里迪的残疾人生活产生了积极影响。生活在盘尾丝虫病流行地区的所有残疾人都应能享受到类似的服务。需要提供有关非淋菌性尿道炎的循证信息,以减少误解和与癫痫相关的污名化。
{"title":"Evaluating epilepsy management in an onchocerciasis-endemic area: Case of Maridi, South Sudan","authors":"Olivia Kamoen ,&nbsp;Stephen Raimon Jada ,&nbsp;Jacopo Mattia Rovarini ,&nbsp;Gasim Abd-Elfarag ,&nbsp;Luís-Jorge Amaral ,&nbsp;Yak Bol ,&nbsp;Joseph Nelson Siewe Fodjo ,&nbsp;Robert Colebunders","doi":"10.1016/j.seizure.2024.05.001","DOIUrl":"10.1016/j.seizure.2024.05.001","url":null,"abstract":"<div><h3>Purpose</h3><div>The epilepsy prevalence in Maridi County, South Sudan, in 2018 was 43.8 (95% CI: 40.9–47.0) per 1000 persons; 85.2% of the identified persons with epilepsy (PWE) met the criteria of onchocerciasis-associated epilepsy. To address this health problem, an epilepsy clinic was established at Maridi County Hospital in 2020. In August 2023, the impact of the clinic on the lives of PWE and their families was evaluated.</div></div><div><h3>Methods</h3><div>At the Maridi epilepsy clinic, data routinely collected by primary healthcare workers as part of patient care was reviewed. We also analyzed findings from two household surveys conducted in 2018 and 2022, which assessed the impact of the clinic on epilepsy care. Moreover, four households, each with four PWE, were visited in a high epilepsy prevalence area. PWE were examined by a neurologist, and in-depth interviews were conducted with family members.</div></div><div><h3>Results</h3><div>The proportion of PWE on anti-seizure medication increased by 39.7% (95%CI: 35.3–44.2) between 2018 and 2022. The proportion of PWE reporting daily seizures decreased from 27.3% in 2018 to 5.3% in 2022. Of the 754 PWE seen in the clinic in July 2023, only 17 (2.3%) reported side effects. During household visits in July 2023, 13/173 (7.5%) of the visited PWE were found without remaining anti-seizure medication. A high level of epilepsy-related stigma was observed in all visited households.</div></div><div><h3>Conclusion</h3><div>The Maridi epilepsy clinic positively impacted the lives of PWE in Maridi. Similar initiatives should be accessible for all PWE living in onchocerciasis-endemic areas. Evidence-based information about OAE is needed to decrease misconceptions and epilepsy-related stigma.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"135 ","pages":"Pages 115-122"},"PeriodicalIF":2.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140877811","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
Outcomes of valproic acid withdrawal in females before or during pregnancy: A systematic review and meta-analysis 女性在怀孕前或怀孕期间停用丙戊酸的结果:一项系统回顾和荟萃分析。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-01 Epub Date: 2026-01-29 DOI: 10.1016/j.seizure.2026.01.019
M. Claudia Burbano , R. Grace Couper , Poul H. Espino , Jorge G. Burneo

Objective

The potential teratogenic effects of valproic acid (VPA) have been widely discussed; however, outcomes after VPAwithdrawal in female patients are less well known. This review summarizes the evidence on switching or withdrawing VPA in people with epilepsy of childbearing potential or during pregnancy.

Methods

We searched Embase, MEDLINE, and Scopus databases in June 2025 for studies measuring outcomes including seizure frequency, side effects, or maternal/fetal complications, in females withdrawn from VPA before or during pregnancy. Reference lists were screened. Risk of bias assessments included the National Institutes of Health (NIH) Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies and Quality Assessment Tool for Case Series Studies. Studies with comparison groups and common outcomes were included in meta-analyses.

Results

The systematic review included nine studies, and meta-analysis included three studies. Overall, 277 females who were pregnant or planning pregnancy withdrew or switched from VPA, while 2206 remained on VPA.We calculated odds ratios of tonic-clonic seizures (TCS) recurrence in females with VPA changes compared with females maintained on VPA using random-effect models. Females planning pregnancy and pregnant females withdrawn from VPA had an increased odds ratio of TCS recurrence during pregnancy (OR 1.73, 95% CI 1.06-2.84). Between 7.9% and 72.2% females withdrawn from VPA before or during pregnancy later restarted VPA.

Conclusion

Withdrawal of VPA during pregnancy had significantly higher odds ratio of TCS recurrence compared with maintenance of VPA. Evidence on fetal outcomes or maternal complications remain limited; studies with longer-term outcomes beyond pregnancy are needed.
目的:丙戊酸(VPA)的潜在致畸作用已被广泛讨论;然而,女性患者停药后的结果尚不清楚。本文综述了在育龄期或妊娠期癫痫患者中切换或停用VPA的证据。方法:我们于2025年6月检索了Embase、MEDLINE和Scopus数据库,以测量在怀孕前或怀孕期间停用VPA的女性的结局,包括癫痫发作频率、副作用或母胎并发症。筛选了参考书目。偏倚风险评估包括美国国立卫生研究院(NIH)观察性队列和横断面研究质量评估工具和病例系列研究质量评估工具。具有对照组和共同结果的研究被纳入meta分析。结果:系统评价纳入9项研究,荟萃分析纳入3项研究。总的来说,277名怀孕或计划怀孕的女性退出或切换了VPA,而2206名仍在使用VPA。我们使用随机效应模型计算了VPA改变的女性与维持VPA的女性的强直-阵挛性发作(TCS)复发的比值比。计划怀孕的女性和退出VPA的孕妇在怀孕期间TCS复发的优势比增加(OR 1.73, 95% CI 1.06-2.84)。7.9%至72.2%的女性在怀孕前或怀孕后重新开始VPA。结论:妊娠期停用VPA与维持VPA相比,TCS复发的优势比明显增高。关于胎儿结局或母体并发症的证据仍然有限;需要对怀孕后的长期结果进行研究。
{"title":"Outcomes of valproic acid withdrawal in females before or during pregnancy: A systematic review and meta-analysis","authors":"M. Claudia Burbano ,&nbsp;R. Grace Couper ,&nbsp;Poul H. Espino ,&nbsp;Jorge G. Burneo","doi":"10.1016/j.seizure.2026.01.019","DOIUrl":"10.1016/j.seizure.2026.01.019","url":null,"abstract":"<div><h3>Objective</h3><div>The potential teratogenic effects of valproic acid (VPA) have been widely discussed; however, outcomes after VPAwithdrawal in female patients are less well known. This review summarizes the evidence on switching or withdrawing VPA in people with epilepsy of childbearing potential or during pregnancy.</div></div><div><h3>Methods</h3><div>We searched Embase, MEDLINE, and Scopus databases in June 2025 for studies measuring outcomes including seizure frequency, side effects, or maternal/fetal complications, in females withdrawn from VPA before or during pregnancy. Reference lists were screened. Risk of bias assessments included the National Institutes of Health (NIH) Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies and Quality Assessment Tool for Case Series Studies. Studies with comparison groups and common outcomes were included in meta-analyses.</div></div><div><h3>Results</h3><div>The systematic review included nine studies, and meta-analysis included three studies. Overall, 277 females who were pregnant or planning pregnancy withdrew or switched from VPA, while 2206 remained on VPA.We calculated odds ratios of tonic-clonic seizures (TCS) recurrence in females with VPA changes compared with females maintained on VPA using random-effect models. Females planning pregnancy and pregnant females withdrawn from VPA had an increased odds ratio of TCS recurrence during pregnancy (OR 1.73, 95% CI 1.06-2.84). Between 7.9% and 72.2% females withdrawn from VPA before or during pregnancy later restarted VPA.</div></div><div><h3>Conclusion</h3><div>Withdrawal of VPA during pregnancy had significantly higher odds ratio of TCS recurrence compared with maintenance of VPA. Evidence on fetal outcomes or maternal complications remain limited; studies with longer-term outcomes beyond pregnancy are needed.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"135 ","pages":"Pages 96-104"},"PeriodicalIF":2.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146100985","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
Ethnic Representation, Deprivation and Seizure Outcomes in a UK Tertiary Epilepsy Clinic 种族代表性,剥夺和癫痫发作的结果在英国三级癫痫诊所
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-01 Epub Date: 2026-01-23 DOI: 10.1016/j.seizure.2026.01.012
Natasha S. Carmichael , Lana YH Lai , Md Shadab Mashuk , Yang Lu , Daniela Di Basilio , Emily J Pegg , Rajiv Mohanraj

Background

Ethnic disparities in healthcare access are well-documented, but their impact on epilepsy outcomes in the UK remains unclear. We examined ethnic representation and seizure outcomes in a tertiary epilepsy clinic.

Methods

Retrospective analysis of 1,609 adults attending Manchester Centre for Clinical Neurosciences (2020–2024). Ethnic distribution was compared with census data. Logistic regression assessed associations between ethnicity and seizure freedom, adjusting for age, sex, and deprivation.

Results

Asian (6.4 %), Black (1.4 %), and Mixed (1.7 %) patients were underrepresented compared to Greater Manchester demographics (13.6 %, 4.0 %, 3.0 % respectively; all p

Conclusions

Ethnic minorities are underrepresented in this tertiary epilepsy clinic yet achieve comparable outcomes once engaged in care, indicating disparities in access rather than treatment quality. Culturally competent care delivery, community outreach, and systematic review of referral pathways are needed to ensure equitable access to specialist services.
背景:在医疗保健方面的种族差异是有案可查的,但它们对英国癫痫预后的影响仍不清楚。我们在一家三级癫痫诊所检查了种族代表性和癫痫发作结果。方法回顾性分析2020-2024年在曼彻斯特临床神经科学中心就诊的1609名成年人。种族分布与人口普查数据进行了比较。逻辑回归评估了种族和癫痫发作自由之间的关系,调整了年龄、性别和剥夺。结果与大曼彻斯特地区相比,亚裔(6.4%)、黑人(1.4%)和混血(1.7%)患者的代表性不足(分别为13.6%、4.0%和3.0%)。结论少数族裔在该三级癫痫诊所的代表性不足,但在接受治疗后却取得了相当的结果,这表明在可及性而非治疗质量方面存在差异。需要有文化能力的护理提供、社区外展和转诊途径的系统审查,以确保公平获得专科服务。
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引用次数: 0
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 : 2026-02-01 Epub 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。
{"title":"Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort study","authors":"Mario Mastrangelo ,&nbsp;Manuela Tolve ,&nbsp;Irene Valenzuela ,&nbsp;Giuliana Lentini ,&nbsp;Elisa Maria Colacino Cinnante ,&nbsp;Barbara Masotto ,&nbsp;Stefano D’ Arrigo ,&nbsp;Paola Francesca Ajmone ,&nbsp;Jessica Rosenblum ,&nbsp;Donatella Milani ,&nbsp;Agusti Rodriguez-Palmero ,&nbsp;Claudia Ciaccio ,&nbsp;Anna C. Jansen ,&nbsp;Francesco Pisani","doi":"10.1016/j.seizure.2026.01.010","DOIUrl":"10.1016/j.seizure.2026.01.010","url":null,"abstract":"<div><h3>Background</h3><div>Epilepsy is a prominent feature in about 60% of patients with ReNU syndrome</div></div><div><h3>Patients and methods</h3><div>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.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusions</h3><div>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.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"135 ","pages":"Pages 46-55"},"PeriodicalIF":2.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146023817","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
期刊
Seizure-European Journal of Epilepsy
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