Seizure-European Journal of Epilepsy最新文献

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Acetazolamide as a solution in pharmacoresistant epilepsy with eyelid myoclonia (Jeavons syndrome). 乙酰唑胺在抗药癫痫伴眼睑肌阵挛(Jeavons综合征)中的应用。
IF 2.8 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-09-01 Epub Date: 2025-07-28 DOI: 10.1016/j.seizure.2025.07.016
Željka Rogač, Anja Ðuroviċ
{"title":"Acetazolamide as a solution in pharmacoresistant epilepsy with eyelid myoclonia (Jeavons syndrome).","authors":"Željka Rogač, Anja Ðuroviċ","doi":"10.1016/j.seizure.2025.07.016","DOIUrl":"10.1016/j.seizure.2025.07.016","url":null,"abstract":"","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"275-279"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144805096","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
Alpha-ERSP as a prognostic biomarker in infantile epileptic spasms syndrome: Insights from quantitative EEG analysis. α - ersp作为婴儿癫痫痉挛综合征的预后生物标志物:来自定量脑电图分析的见解。
IF 2.8 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-09-01 Epub Date: 2025-07-28 DOI: 10.1016/j.seizure.2025.07.014
Min-Jee Kim, Mi-Sun Yum, Tae-Sung Ko
{"title":"Alpha-ERSP as a prognostic biomarker in infantile epileptic spasms syndrome: Insights from quantitative EEG analysis.","authors":"Min-Jee Kim, Mi-Sun Yum, Tae-Sung Ko","doi":"10.1016/j.seizure.2025.07.014","DOIUrl":"10.1016/j.seizure.2025.07.014","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to identify a reliable EEG biomarker for predicting key prognosis in patients with infantile epileptic spasms syndrome (IESS), using modulation index (MI) and event-related spectral perturbation (ERSP) from pre-treatment diagnostic EEGs.</p><p><strong>Method: </strong>This observational study included 45 infants diagnosed with IESS at Asan Medical Center Children's Hospital, Korea, between May 2009 and December 2020. Outcomes were evaluated as three separate binary measures: (1) Electro-clinical spasm freedom, (2) Manageable versus intractable epilepsy, and (3) Good versus poor neurodevelopmental outcome.</p><p><strong>Result: </strong>Clinical factors associated with favorable outcomes included unknown etiology, no prior seizure history, and fewer treatment burdens. Quantitative EEG analysis revealed significantly higher Alpha-ERSP values in patients with spasm freedom, manageable epilepsy, and good neurodevelopmental outcomes compared to their counterparts. Alpha-ERSP with cut-off values of 4.343 predicted spasm freedom with an area under the curve (AUC) of 0.946, manageable epilepsy with an AUC of 0.754, and good neurodevelopmental outcomes with an AUC of 0.774.</p><p><strong>Conclusion: </strong>Quantitative EEG analysis revealed significantly higher Alpha-ERSP values in patients with favorable outcomes, including spasm freedom, manageable epilepsy, and good neurodevelopmental progress. Alpha-ERSP from pre-treatment EEG emerges as a robust predictor of electro-clinical spasm freedom, intractable epilepsy, and neurodevelopmental outcomes in IESS.</p>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"265-274"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144800712","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
Clinico-psychosocial prediction for seizure emergencies: A multicenter derivation-validation study. 癫痫突发事件的临床-社会心理预测:一项多中心衍生验证研究。
IF 2.8 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-09-01 Epub Date: 2025-08-05 DOI: 10.1016/j.seizure.2025.07.019
Shuichiro Neshige, Shiro Aoki, Narumi Ohno, Takafumi Abe, Megumi Nonaka, Yoshiko Takebayashi, Haruka Ishibashi, Takeo Shishido, Dai Agari, Koji Iida, Hirofumi Maruyama
{"title":"Clinico-psychosocial prediction for seizure emergencies: A multicenter derivation-validation study.","authors":"Shuichiro Neshige, Shiro Aoki, Narumi Ohno, Takafumi Abe, Megumi Nonaka, Yoshiko Takebayashi, Haruka Ishibashi, Takeo Shishido, Dai Agari, Koji Iida, Hirofumi Maruyama","doi":"10.1016/j.seizure.2025.07.019","DOIUrl":"10.1016/j.seizure.2025.07.019","url":null,"abstract":"<p><strong>Objectives: </strong>To develop a multidimensional predictive model for emergency hospitalization due to recurrent epileptic seizures, aiming to reduce the burden on healthcare systems and improve patient outcomes through timely interventions and individualized support.</p><p><strong>Methods: </strong>We conducted retrospective and prospective multicenter derivation-validation cohort studies (n = 230 and 505, respectively). The derivation cohort, comprising patients retrospectively assessed between 2019 and 2020 at a single epilepsy center, was used to analyze clinical, social, and psychological factors associated with seizure worsening. Three predictive models were constructed: clinical, clinico-social, and clinico-psychosocial. These models were prospectively validated at three tertiary care hospitals between 2023 and 2024 to predict seizure recurrence requiring emergency hospitalization. Predictive performance was evaluated using receiver operating characteristic (ROC) analysis, and comparative performance was assessed.</p><p><strong>Results: </strong>In the derivation cohort, focal epilepsy (p = 0.015), high seizure frequency (p = 0.002), psychogenic non-epileptic seizures (p < 0.001), mood disorders (p < 0.001), and living alone (p < 0.001) were identified as significant predictors of seizure worsening. Three predictive scores were developed: a clinical score (including focal seizures and high seizure frequency); a clinico-social score (incorporating social factors); and a clinico-psychosocial score (incorporating psychosocial variables). The clinical score yielded an area under the curve (AUC) of 0.87 (95% CI, 0.76-0.93), whereas the clinico-psychosocial score demonstrated superior predictive performance, with an AUC of 0.96 (95% CI, 0.92-0.98; p=0.016).</p><p><strong>Significance: </strong>The clinico-psychosocial model, reflecting drug-resistant focal epilepsy, social isolation, and psychological distress, exhibited excellent predictive accuracy for emergency hospitalization. This model can support clinicians in early identification of high-risk patients, thereby potentially reducing the incidence of recurrent seizures and associated social consequences.</p>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"307-313"},"PeriodicalIF":2.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144818044","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
Efficacy of adjunctive lacosamide in children with drug-resistant epilepsy: A systematic review, meta-analysis and meta-regression 辅助拉科沙胺治疗儿童耐药癫痫的疗效:系统评价、meta分析和meta回归
IF 2.8 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-08-29 DOI: 10.1016/j.seizure.2025.08.032
Anderson Matheus Pereira da Silva , Ocilio de Deus , Mariana Lee Han , Filipe Virgilio Ribeiro , Marianna Leite , Lucas Silva Cabeça , Maria Antonia Oliveira Machado Pereira , Adil Ahmed , Julia Oliveira Franco , Gustavo Sousa Noleto , Eryvelton de Souza Franco , Maria Bernadete de Sousa Maia
{"title":"Efficacy of adjunctive lacosamide in children with drug-resistant epilepsy: A systematic review, meta-analysis and meta-regression","authors":"Anderson Matheus Pereira da Silva ,&nbsp;Ocilio de Deus ,&nbsp;Mariana Lee Han ,&nbsp;Filipe Virgilio Ribeiro ,&nbsp;Marianna Leite ,&nbsp;Lucas Silva Cabeça ,&nbsp;Maria Antonia Oliveira Machado Pereira ,&nbsp;Adil Ahmed ,&nbsp;Julia Oliveira Franco ,&nbsp;Gustavo Sousa Noleto ,&nbsp;Eryvelton de Souza Franco ,&nbsp;Maria Bernadete de Sousa Maia","doi":"10.1016/j.seizure.2025.08.032","DOIUrl":"10.1016/j.seizure.2025.08.032","url":null,"abstract":"<div><h3>Background</h3><div>To systematically evaluate the efficacy, safety, and tolerability of adjunctive lacosamide (LCM) in children and adolescents with drug-resistant epilepsy (DRE).</div></div><div><h3>Methods</h3><div>A systematic review and single-arm meta-analysis was conducted in accordance with PRISMA 2020 guidelines. MEDLINE, Embase, and Cochrane Library were searched up to April 2025. Observational studies including pediatric patients (&lt;18 years) with DRE treated with adjunctive LCM were included. Pooled estimates were derived using random-effects models. Subgroup analyses assessed age (&lt;2, 2–12, &gt;12 years) and dose (≤6 vs &gt;6 mg/kg/day). Meta-regression explored the impact of etiology, concomitant sodium channel blocker exposure, prior antiseizure medications, and study design. Cumulative analyses examined temporal trends in efficacy and safety.</div></div><div><h3>Results</h3><div>Twelve studies comprising 503 patients met inclusion criteria. Seizure freedom was achieved in 22 % (95 % CI 15–31 %). Rates of ≥50 % reduction were 61 % at 3 months, 62 % at 6 months, 58 % at 9 months, and 48 % at 12 months. Adverse events occurred in 28 % (19–37 %), most commonly drowsiness (12 %) and irritability (7 %); discontinuation reached 24 % (14–34 %). Children &lt;2 years had lower 12-month response (17 %¦vs 57 % in 2–12 years). Lower doses (≤6 mg/kg/day) yielded higher short-term responses (68 %¦vs 38 %) but greater discontinuation and irritability. Meta-regression linked genetic etiology and sodium channel blocker exposure with improved outcomes, while higher mean dose predicted reduced 3-month response. Cumulative analyses showed stable estimates after 2020, with attenuation at 12 months.</div></div><div><h3>Conclusions</h3><div>Adjunctive LCM may offer meaningful seizure reduction with acceptable tolerability in pediatric DRE, though discontinuation is frequent. Age, dose, and etiology influence treatment response, highlighting the need for individualized strategies and prospective controlled trials with extended follow-up.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"132 ","pages":"Pages 64-74"},"PeriodicalIF":2.8,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144997208","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
Tough to treat: What we know about managing PCDH19-related epilepsy - Systematic review 难以治疗:我们对管理pcdh19相关癫痫的了解-系统回顾
IF 2.8 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-08-26 DOI: 10.1016/j.seizure.2025.08.030
Aleksandra Tobiasz , Monika Hager , Julia Dębowska , Agata Jaunich , Justyna Paprocka
{"title":"Tough to treat: What we know about managing PCDH19-related epilepsy - Systematic review","authors":"Aleksandra Tobiasz ,&nbsp;Monika Hager ,&nbsp;Julia Dębowska ,&nbsp;Agata Jaunich ,&nbsp;Justyna Paprocka","doi":"10.1016/j.seizure.2025.08.030","DOIUrl":"10.1016/j.seizure.2025.08.030","url":null,"abstract":"<div><h3>Background</h3><div>PCDH19-related epilepsy is a rare, X-linked developmental and epileptic encephalopathy that primarily affects heterozygous females. It is caused by pathogenic variants in the PCDH19 gene, encoding protocadherin-19, a calcium-dependent adhesion protein involved in neurodevelopment. The disorder’s hallmark is cellular interference, leading to brain mosaicism and clinical features including early-onset clustered focal seizures, cognitive impairment, and frequent comorbidity with autism.</div></div><div><h3>Objective</h3><div>This review synthesizes current evidence on treatment approaches for PCDH19-related epilepsy, covering conventional anti-seizure medications, adjunctive therapies, and non-pharmacological interventions, while highlighting emerging strategies and research gaps.</div></div><div><h3>Methods</h3><div>A systematic literature search was conducted in PubMed and Scopus (January 2008 – April 2025).</div></div><div><h3>Results</h3><div>27 studies were included, involving patients with genetically or clinically confirmed PCDH19-related epilepsy and reported treatment outcomes. The condition is often pharmacoresistant, with highly variable responses. Levetiracetam, especially when initiated early, showed the most consistent seizure reduction, followed by clobazam and potassium bromide. Topiramate and stiripentol showed potential in isolated reports. Carbamazepine was often ineffective or worsened seizures. Adjunctive agents – including corticosteroids, ganaxolone – had variable efficacy; ganaxolone showed promise in recent trials. Non-pharmacological interventions, like vagus nerve stimulation, ketogenic diet, and temporal lobectomy, reduced seizures in some cases but lacked standardized evidence.</div></div><div><h3>Conclusions</h3><div>Treatment remains challenging due to clinical heterogeneity and limited high-quality data. Early, individualized, multimodal approaches appear most beneficial. There is a need for genotype-informed, multicenter trials and standardized outcome measures to guide evidence-based care.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"132 ","pages":"Pages 98-109"},"PeriodicalIF":2.8,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145026277","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
Cerliponase alfa therapy leads to long-term seizure freedom in a patient with late infantile neuronal ceroid lipofuscinosis Cerliponase α治疗导致晚期婴儿神经性Cerliponase lipofuscinosis患者的长期癫痫发作自由
IF 2.8 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-08-26 DOI: 10.1016/j.seizure.2025.08.024
Anita N. Datta , Sylvia Stockler
{"title":"Cerliponase alfa therapy leads to long-term seizure freedom in a patient with late infantile neuronal ceroid lipofuscinosis","authors":"Anita N. Datta ,&nbsp;Sylvia Stockler","doi":"10.1016/j.seizure.2025.08.024","DOIUrl":"10.1016/j.seizure.2025.08.024","url":null,"abstract":"","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"132 ","pages":"Pages 1-3"},"PeriodicalIF":2.8,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144896231","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
ADAM23 haploinsufficiency as a putative oligogenic contributor in an individual with focal epilepsy ADAM23单倍体功能不全是局灶性癫痫患者的推定寡基因因素
IF 2.8 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-08-23 DOI: 10.1016/j.seizure.2025.08.027
Martin Krenn , Karl-Heinz Nenning , Susanne Aull-Watschinger , Ekaterina Pataraia , Matias Wagner , Fritz Zimprich
{"title":"ADAM23 haploinsufficiency as a putative oligogenic contributor in an individual with focal epilepsy","authors":"Martin Krenn ,&nbsp;Karl-Heinz Nenning ,&nbsp;Susanne Aull-Watschinger ,&nbsp;Ekaterina Pataraia ,&nbsp;Matias Wagner ,&nbsp;Fritz Zimprich","doi":"10.1016/j.seizure.2025.08.027","DOIUrl":"10.1016/j.seizure.2025.08.027","url":null,"abstract":"<div><h3>Purpose</h3><div>ADAM23 is involved in neuronal excitability and interacts with LGI1, a known genetic risk factor for focal epilepsy. While <em>ADAM23</em> has been linked to canine seizures, a recent gene-burden meta-analysis first nominated it as a risk gene for epilepsy in humans. Building on these findings, our study aimed to explore the significance of truncating <em>ADAM23</em> variants in deeply phenotyped individuals with diverse seizure disorders.</div></div><div><h3>Methods</h3><div>We screened the exome sequencing data from 389 individuals with various seizure phenotypes for truncating variants in <em>ADAM23</em>. This report focuses on one individual harboring a heterozygous frameshift variant in <em>ADAM23</em>, selected for detailed analysis due to intriguing additional genetic findings.</div></div><div><h3>Results</h3><div>We identified a heterozygous frameshift variant (c.428del, p.Asn143Ilefs*26) in <em>ADAM23</em> (NM_003812.4) in a patient with drug-resistant, MRI-negative focal epilepsy accompanied by additional neurocognitive and behavioral issues. The <em>ADAM23</em> variant was inherited from an unaffected parent. Notably, the same individual carried inherited, truncating variants in two other brain-expressed, loss-of-function-intolerant genes: <em>TNRC6A</em> and <em>MAPK8IP3</em>.</div></div><div><h3>Conclusion</h3><div>These findings suggest that <em>ADAM23</em> contributes to epilepsy with reduced penetrance, potentially influenced by oligogenic factors. Although descriptive and hypothesis-generating, our data underscore the complexity of currently unexplored genetic contributions to epilepsy.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 454-457"},"PeriodicalIF":2.8,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144895738","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
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