Seizure-European Journal of Epilepsy最新文献

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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
Seizure-European Journal of Epilepsy 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
{"title":"Long-term seizure outcomes and the likelihood of antiseizure medication withdrawal in patients with juvenile absence epilepsy: A 10-year follow-up study","authors":"Xiaoli Wang ,&nbsp;Xinbo Zhang ,&nbsp;Jingya Wei ,&nbsp;Chenwei Li ,&nbsp;Yuanhang Pan,&nbsp;Gengyao Hu,&nbsp;Min Li,&nbsp;Wenjuan Zhang,&nbsp;Yong-Hong Liu","doi":"10.1016/j.seizure.2025.09.005","DOIUrl":"10.1016/j.seizure.2025.09.005","url":null,"abstract":"<div><h3>Background and Objective</h3><div>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.</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Results</h3><div>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.</div><div>The age of onset (<em>p</em> = 0.040) and age at last follow up (<em>p</em> = 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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"132 ","pages":"Pages 117-124"},"PeriodicalIF":2.8,"publicationDate":"2025-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145049576","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
Characterizing CHD2-associated epilepsy: A multicenter study and pooled analysis of the literature chd2相关癫痫的特征:一项多中心研究和文献汇总分析
IF 2.8 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-09-04 DOI: 10.1016/j.seizure.2025.09.004
Anabel G. Puri , Sean Woods , John M. Schreiber , Cynthia G. Keator , Jason Coryell , Sonal Bhatia , Senyene E. Hunter , Mahjabeen Khan , Dylan C. Brock , Christina Sanlnocencio , Laura Marks , Stephanie Prince , Cemal Karakas
{"title":"Characterizing CHD2-associated epilepsy: A multicenter study and pooled analysis of the literature","authors":"Anabel G. Puri ,&nbsp;Sean Woods ,&nbsp;John M. Schreiber ,&nbsp;Cynthia G. Keator ,&nbsp;Jason Coryell ,&nbsp;Sonal Bhatia ,&nbsp;Senyene E. Hunter ,&nbsp;Mahjabeen Khan ,&nbsp;Dylan C. Brock ,&nbsp;Christina Sanlnocencio ,&nbsp;Laura Marks ,&nbsp;Stephanie Prince ,&nbsp;Cemal Karakas","doi":"10.1016/j.seizure.2025.09.004","DOIUrl":"10.1016/j.seizure.2025.09.004","url":null,"abstract":"<div><h3>Background and objectives</h3><div><em>CHD2</em> variants have been implicated in a spectrum of neurodevelopmental disorders, including early-onset developmental and epileptic encephalopathy. Despite growing interest in <em>CHD2</em>-related disorders, the full phenotypic spectrum, including epilepsy features and genotype-phenotype relationships, is not fully understood. This study aims to systematically review the literature and analyze data from a multicenter registry to independently describe phenotypic and genotypic features of <em>CHD2</em>-associated epilepsy.</div></div><div><h3>Methods</h3><div>A systematic literature review was conducted from inception to 7/2024 using EMBASE, Web of Science, and PubMed with the keywords \"<em>CHD2”.</em> Additional data was collected from a search of the Pediatric Epilepsy Research Consortium (PERC) Epilepsy Genetics Database and the same parameters were used to gather relevant information about patients with both <em>CHD2</em> variants and epilepsy.</div></div><div><h3>Results</h3><div>Of the 644 screened articles, 74 articles containing individual participant data were included for full-text review and analysis, focusing on parameters such as CHD2 variants, clinical characteristics, neuroimaging findings, and electroencephalography (EEG) results. Data from 236 individuals with epilepsy and <em>CHD2</em> variants were included, including 12 previously unreported cases from the PERC Genetics database. Of the patients with available data, 53% (108/205) were male, and 95% (170/179) had confirmed <em>de novo</em> mutations. Seizure onset ranged from 1 day to 22 years, with 59% (80/136) of the cases exhibiting photosensitivity and 37% (33/90) fever sensitivity. Most common comorbidities included intellectual disability (86%, 121/141), developmental delay (88%, 156/177), and autism (45%, 68/150). EEG showed epileptiform abnormalities in 88% (122/138) of the cases. MRI findings were abnormal in 19% (22/116) of patients.</div></div><div><h3>Discussion</h3><div><em>CHD2</em>-associated epilepsy presents with considerable phenotypic variability, including variable age of seizure onset, photosensitivity, and neurodevelopmental comorbidities. This review highlights the importance of comprehensive phenotypic-genotypic characterization to better understand the clinical spectrum of <em>CHD2</em> variants, emphasizing the need for further investigation into the mechanisms driving phenotypic diversity.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"132 ","pages":"Pages 88-97"},"PeriodicalIF":2.8,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027057","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
Autism and prenatal exposure to antiseizure medications: Still a long-standing blind spot? 自闭症和产前抗癫痫药物暴露:仍然是一个长期存在的盲点?
IF 2.8 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-09-01 DOI: 10.1016/j.seizure.2025.05.024
Alain Braillon
{"title":"Autism and prenatal exposure to antiseizure medications: Still a long-standing blind spot?","authors":"Alain Braillon","doi":"10.1016/j.seizure.2025.05.024","DOIUrl":"10.1016/j.seizure.2025.05.024","url":null,"abstract":"","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 480-481"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145048303","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 epilepsy deaths register: Third-party reports of SUDEP in adults and older adolescents 癫痫死亡登记:成人和大龄青少年猝死的第三方报告
IF 2.8 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-08-28 DOI: 10.1016/j.seizure.2025.08.031
Alexander Grundmann , Jacob Brolly , Donald P Craig , Karen Osland , Jane Hanna , Elaine Hughes , Mike P Kerr , Ben Donovan , Rhys H Thomas
{"title":"The epilepsy deaths register: Third-party reports of SUDEP in adults and older adolescents","authors":"Alexander Grundmann ,&nbsp;Jacob Brolly ,&nbsp;Donald P Craig ,&nbsp;Karen Osland ,&nbsp;Jane Hanna ,&nbsp;Elaine Hughes ,&nbsp;Mike P Kerr ,&nbsp;Ben Donovan ,&nbsp;Rhys H Thomas","doi":"10.1016/j.seizure.2025.08.031","DOIUrl":"10.1016/j.seizure.2025.08.031","url":null,"abstract":"<div><h3>Objective</h3><div>The major source for sudden unexpected death in epilepsy (SUDEP) case series has been medical case record review, however most deaths occur at home, with no clinical witness. We set out to describe SUDEP characteristics using reports of deaths from third-parties and explore the effectiveness of this reporting as a sampling technique.</div></div><div><h3>Methods</h3><div>We collected characteristics of the deceased and narratives surrounding death via the SUDEP Action UK Epilepsy Deaths Register (EDR). We included adults and older adolescents with a certified cause of death, and narrative in keeping with definite or probable SUDEP. We collected demographics, details of follow-up, events leading to death, and attitudes towards condition and treatment in life from third-party reporters between 2013 and 2024.</div></div><div><h3>Results</h3><div>407 SUDEP cases were identified, 268 definite, 16 definite plus, 112 probable and 11 near SUDEP. Ages ranged from 15–85 years, with the majority (76 % of cases) occurring between the ages of 19 – 49 years; 59 % were male. Most cases were found in the prone position (63 %), and death most frequently occurred during sleep (69 %). Inconsistencies were identified between death certification and reporter accounts in 24.8 % of cases, where SUDEP was consistent with the reporter account but not reflected in official death records. Increased frequency of SUDEP was observed with lengthening duration of epilepsy, with 41 % diagnosed more than 10 years prior to death. 24 % were reported as sometimes forgetting to take their medications. 16 % of cases lived alone and 16 % of deaths were witnessed.</div></div><div><h3>Significance</h3><div>Third-party death reports are an effective, under-utilised tool to sample SUDEP deaths which may currently be missed by conventional mortality records. SUDEP in the EDR was seen more frequently in young adults, those with longstanding epilepsy and during sleep and were most often found in a prone position. Heterogeneity across the spectrum of SUDEP deaths should prompt clinicians to warn all those with epilepsy of their SUDEP risk.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"132 ","pages":"Pages 20-29"},"PeriodicalIF":2.8,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144916255","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 efficacy and safety of the ketogenic diet in infantile epileptic spasm syndrome: a meta-analysis 生酮饮食对婴儿癫痫痉挛综合征的疗效和安全性:一项荟萃分析
IF 2.8 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-08-25 DOI: 10.1016/j.seizure.2025.08.029
CaoXue Zuo , KangJie Xu , Kun Ni , YuXin Xiang , Yang Wang , Zhisheng Liu , Dan Sun
{"title":"The efficacy and safety of the ketogenic diet in infantile epileptic spasm syndrome: a meta-analysis","authors":"CaoXue Zuo ,&nbsp;KangJie Xu ,&nbsp;Kun Ni ,&nbsp;YuXin Xiang ,&nbsp;Yang Wang ,&nbsp;Zhisheng Liu ,&nbsp;Dan Sun","doi":"10.1016/j.seizure.2025.08.029","DOIUrl":"10.1016/j.seizure.2025.08.029","url":null,"abstract":"<div><h3>Objective</h3><div>To systematically evaluate the efficacy and safety of the ketogenic diet (KD) in treating infantile epileptic spasm syndrome (IESS).</div></div><div><h3>Methods</h3><div>A comprehensive search of electronic databases was conducted to identify prognostic studies on the use of KD for IESS. Data from eligible studies were extracted and meta-analyzed using a random-effects model.</div></div><div><h3>Results</h3><div>The meta-analysis indicated that the proportion of children experiencing <em>a</em> ≥ 50% reduction in spasticity episodes at 3, 6, and 12 months post-KD initiation was 63% (95% CI: 0.52–0.73), 66% (95% CI: 0.56–0.76), and 60% (95% CI: 0.43–0.77), respectively. Seizure-free periods occurred in 21% (95% CI: 0.11–0.32), 21% (95% CI: 0.12–0.30), and 19% (95% CI: 0.08–0.31) of patients at 3, 6, and 12 months, respectively. KD treatment also significantly improved electroencephalogram (EEG) abnormalities (OR: 54%, <em>P</em> &lt; 0.01) and contributed to the enhancement of motor, cognitive, and language development (OR: 56%, <em>P</em> &lt; 0.01). Common adverse events included gastrointestinal issues (427/1313, 32%) and disturbances in the internal environment (428/1313, 32%), though most were mild and manageable. Evidence is predominantly low-certainty with significant publication bias.</div></div><div><h3>Conclusion</h3><div>The ketogenic diet is an effective and safe treatment option for children with IESS who are unresponsive to antiepileptic drugs.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"132 ","pages":"Pages 54-63"},"PeriodicalIF":2.8,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144997281","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
Experiential reflex epilepsy demonstrated with stereoEEG 立体脑电图显示经验性反射性癫痫
IF 2.8 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-08-24 DOI: 10.1016/j.seizure.2025.08.028
Ruta Yardi , Peter Wolf
{"title":"Experiential reflex epilepsy demonstrated with stereoEEG","authors":"Ruta Yardi ,&nbsp;Peter Wolf","doi":"10.1016/j.seizure.2025.08.028","DOIUrl":"10.1016/j.seizure.2025.08.028","url":null,"abstract":"<div><h3>Purpose</h3><div>Reflex epilepsies are epileptic disorders in which seizures are consistently provoked by specific, identifiable stimuli—typically sensory or cognitive. In patients with memory-induced seizures, it has long been debated whether the memory acts as the trigger for the seizure or represents its first clinical manifestation.</div></div><div><h3>Methods</h3><div>We present the case of a 25-year-old woman with reflex seizures triggered by the recollection of specific autobiographical memories.</div></div><div><h3>Results</h3><div>Using stereo-electroencephalography (sEEG), we captured the reflex phenomenon induced by a voluntary retrieval of memory and identified activation patterns within physiologic memory networks contributing to seizure initiation.</div></div><div><h3>Conclusion</h3><div>This case highlights the complex interplay between memory-related cortical circuits, and ictogenic mechanisms, offering new insights into the dynamic landscape of cortical excitability in reflex epilepsies.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"132 ","pages":"Pages 75-78"},"PeriodicalIF":2.8,"publicationDate":"2025-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144997282","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
Discriminating clinical profiles in epilepsy, in functional/dissociative seizures (FDS) and co-occurrence 辨别癫痫的临床特征,在功能性/分离性癫痫发作(FDS)和共发。
IF 2.8 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-08-22 DOI: 10.1016/j.seizure.2025.08.026
Deniz Ertan , Nicolas Mezouar , Alexis Tarrada , Louis Maillard , Wissam El-Hage , Coraline Hingray
{"title":"Discriminating clinical profiles in epilepsy, in functional/dissociative seizures (FDS) and co-occurrence","authors":"Deniz Ertan ,&nbsp;Nicolas Mezouar ,&nbsp;Alexis Tarrada ,&nbsp;Louis Maillard ,&nbsp;Wissam El-Hage ,&nbsp;Coraline Hingray","doi":"10.1016/j.seizure.2025.08.026","DOIUrl":"10.1016/j.seizure.2025.08.026","url":null,"abstract":"<div><h3>Context</h3><div>By accurately differentiating clinical profiles, healthcare providers can offer more personalized and effective care to patients with seizure disorders, improving their overall quality of life.</div></div><div><h3>Objective</h3><div>This study aimed to compare the demographic, psychiatric, neurological, and trauma profiles of patients with functional/dissociative seizures (FDS), epilepsy, and the co-occurrence of FDS and epileptic seizures.</div></div><div><h3>Methods</h3><div>We conducted a cross-sectional study. Patients were recruited from two epileptology departments (Nancy University Hospital and La Teppe Institute, France) between 2018 and 2023. Diagnosis was made by experienced epileptologist according to the criteria of the ILAE (International League Against Epilepsy). All patients underwent a systematic psychiatric assessment including investigation of demographic, neurological, psychiatric, and trauma data through a semi-structured clinical interviews and standardized scales.</div></div><div><h3>Results</h3><div>We analyzed 296 patients: 195 patients with epilepsy, 66 patients with FDS, and 35 with both. The FDS-only group was more likely to be female (<em>p</em>=.004), have later seizure onset (<em>p</em>&lt;.001), use fewer antiseizure medications (<em>p</em>&lt;.001), and report sexual trauma (<em>p</em>&lt;.001) and alexithymia (<em>p</em>&lt;.001). Conversely, patients with epilepsy-only had fewer psychiatric comorbidities (<em>p</em>&lt;.001) and past traumatic experiences (<em>p</em>&lt;.001) and dissociative tendencies (<em>p</em>&lt;.001). Both the FDS-only and FDS+Epilepsy groups exhibited higher rates of psychiatric comorbidities (83.3%, 74.3%) and past traumatic experiences (87.9%, 85.3%) compared to the Epilepsy-only group (43.1%, 62.1%).</div></div><div><h3>Significance</h3><div>Both the FDS-only and FDS+Epilepsy groups demonstrated high rates of psychiatric disorders and past traumatic experiences. Sexual trauma and late seizure onset appear to be strongly linked to a FDS diagnosis.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"132 ","pages":"Pages 110-116"},"PeriodicalIF":2.8,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145041996","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 relationship between disease concealment, stigmatization, and self-management in adult patients with epilepsy in Turkey 土耳其成人癫痫患者疾病隐瞒、污名化和自我管理之间的关系
IF 2.8 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-08-20 DOI: 10.1016/j.seizure.2025.08.021
Medine Yücesoy , Ozlem Canbolat
{"title":"The relationship between disease concealment, stigmatization, and self-management in adult patients with epilepsy in Turkey","authors":"Medine Yücesoy ,&nbsp;Ozlem Canbolat","doi":"10.1016/j.seizure.2025.08.021","DOIUrl":"10.1016/j.seizure.2025.08.021","url":null,"abstract":"<div><h3>Objective</h3><div>Patients with epilepsy tend to conceal their disease for fear of stigma. Stigmatization and tendency of epilepsy patients to conceal their illness may make their effective management of the disease and adherence to treatment difficult. Patients should adopt self-management behaviors to avoid being affected by this adverse situation. The aim of the study was to determine the relationship between disease concealment, stigmatization, and self-management in adult patients with epilepsy in Turkey.</div></div><div><h3>Methods</h3><div>This descriptive and correlational study was conducted at the neurology outpatient clinic a training and research hospital. The sample consisted of 143 patients admitted to the neurology outpatient clinic between May and August 2023. Data were collected using personal information form, Concealment of Epilepsy Scale (CES), Epilepsy Stigma Scale (ESS), and Epilepsy Self-Management Scale (ESMS).</div></div><div><h3>Results</h3><div>There was a positive correlation between CES and ESS total scores (<em>r</em> = 0.166, <em>p</em> = 0.047). A negative correlation between CES and ESMS total scores (<em>r</em> = -0.182, <em>p</em> = 0.029), and ESMS “seizure management” subscale scores (<em>r</em> = -0.178, <em>p</em> = 0.033). There was a positive correlation between ESS total and ESMS “safety management” subscale scores (<em>r</em> = 0.171, <em>p</em> = 0.042), and a negative correlation between ESS total and ESMS “lifestyle management” subscale scores (<em>r</em> = -0.219, <em>p</em> = 0.009). Participants with epileptic seizures in the last month (<em>ß</em> = 0.174, <em>p</em> &lt; 0.05) felt higher stigmatization, and who were university education graduate (<em>ß</em> = -0.232, <em>p</em> &lt; 0.05) felt lower stigmatization.</div></div><div><h3>Conclusions</h3><div>Patients with epilepsy who conceal their disease were more likely to feel stigmatized, worse at self-management and managing their seizures. Patients who felt stigmatized were more likely to focus on safety and were worse at maintaining their lifestyles.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"132 ","pages":"Pages 30-36"},"PeriodicalIF":2.8,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144922055","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
Identification of CDK5RAP2 as a causative gene of focal epilepsy without microcephaly CDK5RAP2作为局灶性癫痫无小头畸形致病基因的鉴定
IF 2.8 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-08-18 DOI: 10.1016/j.seizure.2025.08.018
Xiao Li , Hui Sun , Yang Tian , Song Lan , Kaixian Du , Hao Chen , Lin Li , Jing Guan , Qiongxiang Zhai , Jie Wang , Bin Li
{"title":"Identification of CDK5RAP2 as a causative gene of focal epilepsy without microcephaly","authors":"Xiao Li ,&nbsp;Hui Sun ,&nbsp;Yang Tian ,&nbsp;Song Lan ,&nbsp;Kaixian Du ,&nbsp;Hao Chen ,&nbsp;Lin Li ,&nbsp;Jing Guan ,&nbsp;Qiongxiang Zhai ,&nbsp;Jie Wang ,&nbsp;Bin Li","doi":"10.1016/j.seizure.2025.08.018","DOIUrl":"10.1016/j.seizure.2025.08.018","url":null,"abstract":"<div><h3>Objective</h3><div>The <em>CDK5RAP2</em> gene, which encodes a regulator of cyclin-dependent kinase activity, plays a vital role in brain development. <em>CDK5RAP2</em> variants have been previously reported in patients with primary microcephaly-3, with or without epilepsy. This study aimed to investigate the association between <em>CDK5RAP2</em> and epilepsy.</div></div><div><h3>Method</h3><div>Trio-based whole-exome sequencing was performed in patients with idiopathic focal epilepsy without acquired causes. Sub-regional effects, genotype-phenotype correlation, and protein-protein interactions were analysed to reveal gene-disease association.</div></div><div><h3>Results</h3><div>Four compound heterozygous <em>CDK5RAP2</em> variants were identified in four unrelated cases. These variants had no or extremely low allele frequencies in the controls and showed statistically higher frequencies than those in the controls. These variants were predicted to have changes in hydrogen bonds, decreased protein stability, and significant alterations in the hydrophobicity. All patients had focal epilepsy without microcephaly. Patient in one case with two variants of paired missense variants located at the functional domain showed refractory seizures, whereas another patient with variants outside functional domains was seizure-free, suggesting a potential sub-regional effect. The proportion of missense variants in the epilepsy group was significantly higher than that in the primary microcephaly group, suggesting a potential genotype-phenotype correlation. Protein-protein interaction analysis showed that CDK5RAP2 interacted with 31 proteins with high confidence, of which 13 genes were associated with epilepsy and neurodevelopmental disorders, suggesting a potential association between <em>CDK5RAP2</em> and epilepsy.</div></div><div><h3>Conclusion</h3><div><em>CDK5RAP2</em> is a novel causative gene for focal epilepsy without microcephaly.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 435-442"},"PeriodicalIF":2.8,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144886993","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
Modulation of neuroinflammation as a therapeutic strategy for the control of epilepsy 调节神经炎症作为控制癫痫的治疗策略
IF 2.8 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-08-18 DOI: 10.1016/j.seizure.2025.08.023
Alberto Javier Ramos , Alberto Lazarowski , Angélica Vega-García , Efraín Buriticá-Ramírez , Jerónimo Auzmendi , Lina Vanessa Becerra-Hernández , Maria de los Angeles Nuñez-Lumbreras , Sandra A. Orozco-Suárez , Suélen Santos Alves , Norberto Garcia-Cairasco , Jose Eduardo Peixoto-Santos , Esper Abrão Cavalheiro , Luisa Rocha
{"title":"Modulation of neuroinflammation as a therapeutic strategy for the control of epilepsy","authors":"Alberto Javier Ramos ,&nbsp;Alberto Lazarowski ,&nbsp;Angélica Vega-García ,&nbsp;Efraín Buriticá-Ramírez ,&nbsp;Jerónimo Auzmendi ,&nbsp;Lina Vanessa Becerra-Hernández ,&nbsp;Maria de los Angeles Nuñez-Lumbreras ,&nbsp;Sandra A. Orozco-Suárez ,&nbsp;Suélen Santos Alves ,&nbsp;Norberto Garcia-Cairasco ,&nbsp;Jose Eduardo Peixoto-Santos ,&nbsp;Esper Abrão Cavalheiro ,&nbsp;Luisa Rocha","doi":"10.1016/j.seizure.2025.08.023","DOIUrl":"10.1016/j.seizure.2025.08.023","url":null,"abstract":"<div><div>Neuroinflammation plays a pivotal role in the onset and progression of epilepsy. In this review, we critically examine: (1) the dual roles of astrocytes and microglia in maintaining a chronic inflammation and its contribution to epileptogenesis and seizures; (2) the crosstalk between the histamine released by mast cells and the brain histaminergic neurotransmission, an underexplored mechanism for seizures; (3) the potential of inflammatory mediators as biomarkers for predicting prognosis and risk stratification; (4) the shared inflammatory pathways linking epilepsy and Alzheimer’s disease, with special attention to reactive astrocyte and ferroptosis markers in identifying individuals at risk; (5) emerging therapeutic strategies, including conventional anti-inflammatory drugs and traditional medicine, for seizure control through modulation of neuroinflammation. With these carefully chosen topics, we introduce new molecular findings reinforcing the crucial role of neuroinflammation in epilepsy and as a marker for epileptogenesis, a topic of special interest for the acquired epilepsies such as hippocampal sclerosis. Moreover, we explored other mechanisms that received far less attention, especially those linking epilepsy with Alzheimer’s disease, and the potential role of mast cells in seizures.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 458-470"},"PeriodicalIF":2.8,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144906852","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}
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