Seizure-European Journal of Epilepsy最新文献

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Increased seizure frequency graphs in medication trials: FDA labels vs. peer-review 药物试验中癫痫发作频率增加图表:FDA标签vs.同行评审
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-06-01 DOI: 10.1016/j.seizure.2025.05.021
Christopher Henry , Miranda Creasey , LaMont Cannon , Samuel W Terman , Daniel Goldenholz
{"title":"Increased seizure frequency graphs in medication trials: FDA labels vs. peer-review","authors":"Christopher Henry ,&nbsp;Miranda Creasey ,&nbsp;LaMont Cannon ,&nbsp;Samuel W Terman ,&nbsp;Daniel Goldenholz","doi":"10.1016/j.seizure.2025.05.021","DOIUrl":"10.1016/j.seizure.2025.05.021","url":null,"abstract":"<div><h3>Objective</h3><div>Anti-seizure medications (ASMs) typically reduce seizure frequency (SF) in some patients. However, even when the ASM is effective, some patients experience increased SF after initiation largely due to natural fluctuations. Graphical communication of those that experience an increase can vary between trial publications. We assessed the difference in graphical representation of the percentage of patients showing increased SF in ASMs trials between the U.S. Food and Drug Administration (FDA) approved prescribing labels and those in the peer-reviewed literature.</div></div><div><h3>Methods</h3><div>We searched peer-reviewed literature for the initial publication of randomized clinical efficacy trials referenced in the prescribing labels of FDA-approved ASMs for adjunctive treatment of epilepsy from (2000–2024). We then assessed whether a systematic difference existed in the choice to graphically display the percentage of patients with an increase in SF.</div></div><div><h3>Results</h3><div>There were 16 ASMs approved for adjunctive treatment between 2000–2024. There were 43 studies referenced for clinical efficacy in the 16 labels. Peer-reviewed journals included graphs SF increases in 23 % (95 % CI: 12 % to 39 %) compared to FDA-approved labels in 63 % (95 % CI: 35 % to 85 %). The absolute difference in the presence of the graphs was 39 % (95 % CI: 8 % to 65 %) (Chi-squared = 6.359, p-value = 0.012). When text and tables were included peer-review journals presented SF increases in 51 % of the trials (22 out of 43).</div></div><div><h3>Conclusion</h3><div>Compared to FDA-approved labels, the peer-reviewed publications of the last 16 FDA-approved ASMs under-informed clinicians about the percentage of patients with increased SF, which may impact informed shared decision-making.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 29-34"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144223048","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
A novel pathogenic variant causing POU3F3-related neurodevelopmental disorder in a child presenting with infantile epileptic spasms syndrome: Expanding the epileptic phenotype 一种新的致病变异导致以婴儿癫痫痉挛综合征为表现的儿童的pou3f3相关神经发育障碍:扩大癫痫表型
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-05-31 DOI: 10.1016/j.seizure.2025.05.020
Gaetano Terrone , Emilia Cirillo , Francesca Ripoli , Selene Votta , Maria Francesca Fiorile , Salvatore Aiello , Chiara Paolella , Immacolata Andolfo , Roberta Russo , Carmela Bravaccio
{"title":"A novel pathogenic variant causing POU3F3-related neurodevelopmental disorder in a child presenting with infantile epileptic spasms syndrome: Expanding the epileptic phenotype","authors":"Gaetano Terrone ,&nbsp;Emilia Cirillo ,&nbsp;Francesca Ripoli ,&nbsp;Selene Votta ,&nbsp;Maria Francesca Fiorile ,&nbsp;Salvatore Aiello ,&nbsp;Chiara Paolella ,&nbsp;Immacolata Andolfo ,&nbsp;Roberta Russo ,&nbsp;Carmela Bravaccio","doi":"10.1016/j.seizure.2025.05.020","DOIUrl":"10.1016/j.seizure.2025.05.020","url":null,"abstract":"<div><h3>Purpose</h3><div>Pathogenic variants in the <em>POU3F3</em> gene are responsible for an ultra-rare neurogenetic disorder, characterized by a combination of neuropsychiatric and systemic manifestations. Epilepsy is observed in approximately 15 % of affected individuals, ranging from focal non-motor sensitive seizures (gelastic and dacristic) to generalized motor and non-motor seizures including either tonic-clonic, tonic, myoclonic, atonic or atypical absences. To date, no cases of infantile epileptic spasms have been associated with this neurogenetic condition.</div></div><div><h3>Methods</h3><div>We report on a 20 months male patient presenting at 4 months of life with epileptic spasms, encephalopathic pattern on EEG, confirmed by BASED score, severe hypotonia, microcephaly, cerebral malformation and hyperkinetic movement disorder, consisting of stereotypies and dyskinesias. Epileptic spasms relapsed after ACTH cycle and responded to treatment with vigabatrin.</div></div><div><h3>Results</h3><div>Exome analysis revealed a novel missense <em>de novo</em> pathogenic variant (c.1071G&gt;<em>C</em>; p.Gln337His) in the <em>POU3F3</em> gene.</div></div><div><h3>Conclusions</h3><div>This case expands the epileptic phenotype of the <em>POU3F3</em>-related neurodevelopment disorder and contributes to the identification of a novel potential gene, involved in the genetic etiology of Infantile Epileptic Spasm Syndrome.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 22-25"},"PeriodicalIF":2.7,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144205763","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
A new developmental and epileptic encephalopathy: PUM1-neurodevelopmental disorder with epilepsy with myoclonic-atonic seizures 一种新的发育性和癫痫性脑病:pum1 -神经发育障碍伴癫痫并肌阵挛性失张力发作
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-05-31 DOI: 10.1016/j.seizure.2025.05.018
Rachel Marin , Giovanna Rulo , Danielle M. Andrade , Luciana M. Inuzuka , Matheus A.A. Castro , Silvia Vincentiis , Marilisa M. Guerreiro , Kette D. Valente
{"title":"A new developmental and epileptic encephalopathy: PUM1-neurodevelopmental disorder with epilepsy with myoclonic-atonic seizures","authors":"Rachel Marin ,&nbsp;Giovanna Rulo ,&nbsp;Danielle M. Andrade ,&nbsp;Luciana M. Inuzuka ,&nbsp;Matheus A.A. Castro ,&nbsp;Silvia Vincentiis ,&nbsp;Marilisa M. Guerreiro ,&nbsp;Kette D. Valente","doi":"10.1016/j.seizure.2025.05.018","DOIUrl":"10.1016/j.seizure.2025.05.018","url":null,"abstract":"<div><h3>Objective</h3><div>Pathogenic variants in the <em>PUM1</em> gene are linked to late-onset spinocerebellar ataxia and to a neurodevelopmental disorder (<em>PUM1</em>-associated developmental disability, ataxia, and seizures). The latter is very rare and encompasses developmental delay, intellectual disability, ataxia, seizures, and dysmorphic features with structural brain anomalies. This report introduces a novel presentation of a <em>PUM1</em>-related phenotype, characterized by epilepsy with myoclonic-atonic seizures (EMAtS) as the predominant feature, evolving without ataxia.</div></div><div><h3>Methods</h3><div>Through trio-based whole exome sequencing (WES), we identified a novel de novo heterozygous frameshift variant in the <em>PUM1</em> gene. We reviewed all medical charts of the present patient, assessed his development and reviewed all previously reported cases with pathogenic variant of <em>PUM1.</em></div></div><div><h3>Results</h3><div>A 3.5-year-old boy presented with epilepsy with myoclonic-atonic seizures (EMAtS), mild speech delay, mild dysmorphic features and no motor impairments. WES showed a <em>de novo</em> heterozygous frameshift pathogenic variant in <em>PUM1</em> (NM_001020658:c.1159delC; p.Leu387Cysfs*13) NM_001020658.2(PUM1):c.1159delC (p.Leu387Cysfs*13. Treatment with antiseizure medication and dietary intervention led seizure control within one year, enabling developmental gains despite persisting delays in adaptive functioning and communication. A hallmark of this cases – ataxia – was not observed after epilepsy remission.</div></div><div><h3>Conclusion</h3><div>This case highlights the variability in <em>PUM1</em>-related phenotypes and underscores the importance of considering <em>PUM1</em> pathogenic variants in early-onset generalized epilepsy, even in the absence of hallmark systemic features. It expands the phenotypic spectrum of <em>PUM1</em>-associated disorders by describing a unique childhood-onset epilepsy presentation, emphasizing the variability in clinical manifestations and the potential for favorable outcomes with appropriate management.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 16-21"},"PeriodicalIF":2.7,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144205532","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
Candidates for focal cortex stimulation in the outpatient population of an epilepsy reference center 候选人局灶皮质刺激在门诊人口癫痫参考中心
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-05-30 DOI: 10.1016/j.seizure.2025.05.023
Martin Hirsch , Susana Palao , Birgitta Metternich , Yulia Novitskaya , Andreas Schulze-Bonhage
{"title":"Candidates for focal cortex stimulation in the outpatient population of an epilepsy reference center","authors":"Martin Hirsch ,&nbsp;Susana Palao ,&nbsp;Birgitta Metternich ,&nbsp;Yulia Novitskaya ,&nbsp;Andreas Schulze-Bonhage","doi":"10.1016/j.seizure.2025.05.023","DOIUrl":"10.1016/j.seizure.2025.05.023","url":null,"abstract":"<div><h3>Background</h3><div>Focal Cortex Stimulation (FCS) is a novel treatment for epilepsy. The patient population that may benefit from FCS has not been identified yet. This study uses data from a clinical trial screening at a tertiary epilepsy center's outpatient clinic to estimate the potential for FCS application</div></div><div><h3>Objective</h3><div>To determine the proportion of people with epilepsy (PWE) who could benefit from FCS considering focus localization and extent</div></div><div><h3>Methods</h3><div>All adult patients at the Freiburg epilepsy center outpatient clinic between October 1, 2019 and January 31, 2020, were screened for FCS eligibility. Suitable candidates needed to have 1) one predominant epileptic focus, 2) focus localization at the dorsolateral convexity, and 3) estimated focus size &lt; 5 cm in diameter</div></div><div><h3>Results</h3><div>Epilepsy was confirmed in 562 of 604 patients. FCS was precluded in 205 patients due to specific epilepsy syndromes (e.g., genetic generalized epilepsies, mesiotemporal, unclassified). Patients with malignant tumors (25) or lesions outside the dorsolateral convexity (21) were excluded. In 16 of 41 multilesional patients and 18 of 35 nonlesional patients, a predominant focus was identified via EEG/semiology. In 40 of 127 patients with a neocortical single lesion, the lesion was deemed too extensive for FCS. Overall, 121 patients (21.5 % of all PWE, 26.5 % of focal epilepsy patients) were suitable for FCS, 56 of whom were drug-resistant</div></div><div><h3>Conclusions</h3><div>A significant proportion of PWE at a tertiary epilepsy center have a neocortical focus at the dorsolateral convexity, making them potential candidates for FCS. Given its efficacy and tolerability, FCS is a promising treatment for a major subgroup of patients with drug-resistant focal epilepsy</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 11-15"},"PeriodicalIF":2.7,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144205531","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
Cardiac arrhythmias in patients with focal and generalised epilepsy undergoing ambulatory electroencephalographic and electrocardiographic monitoring 局灶性和全身性癫痫患者的心律失常进行动态脑电图和心电图监测
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-05-30 DOI: 10.1016/j.seizure.2025.05.022
Francis J Ha , Shuyu Wang , Duron Prinsloo , Vanessa Di Tano , Tai Ermongkonchai , Ewan S Nurse , Mark J Cook
{"title":"Cardiac arrhythmias in patients with focal and generalised epilepsy undergoing ambulatory electroencephalographic and electrocardiographic monitoring","authors":"Francis J Ha ,&nbsp;Shuyu Wang ,&nbsp;Duron Prinsloo ,&nbsp;Vanessa Di Tano ,&nbsp;Tai Ermongkonchai ,&nbsp;Ewan S Nurse ,&nbsp;Mark J Cook","doi":"10.1016/j.seizure.2025.05.022","DOIUrl":"10.1016/j.seizure.2025.05.022","url":null,"abstract":"<div><h3>Background</h3><div>Epilepsy may be associated with cardiac arrhythmias. The specific incidence and types of cardiac arrhythmias in different forms of epilepsy is not clearly defined.</div></div><div><h3>Methods</h3><div>We evaluated patients aged 16 years or older referred for continuous home-based ambulatory video–electroencephalographic(EEG)–electrocardiographic(ECG) monitoring (AVEEM) across 24 sites in Australia between 2020 and 2023. Data collected included baseline demographics, type of epilepsy according to EEG findings, and cardiac arrhythmias (ictal and non-ictal) during monitoring. Logistic regression was used to evaluate association between potential risk factors and cardiac arrhythmias.</div></div><div><h3>Results</h3><div>A total of 866 patients with focal epilepsy and 274 with generalised epilepsy were identified who underwent AVEEM. Patients with generalised epilepsy were younger (median age 24 years versus 43 years) and more likely female (69 % versus 55 %) compared with focal epilepsy. Patients with focal epilepsy had more cardiac arrhythmias (279/866; 32 %) compared with generalised epilepsy (40/274; 15 %; <em>p</em> = 0.04). In patients with focal epilepsy, there were more cardiac arrhythmias observed in temporal lobe epilepsy (238/688; 35 %) compared with extra-temporal lobe focal epilepsy (16/82; 20 %; <em>p</em> = 0.006). However, on multivariable analysis only increased age (<em>p</em> &lt; 0.001) remained a significant predictor of increased cardiac arrhythmias. Right or left sided origin of focal epilepsy was not associated with a difference in cardiac arrhythmias (<em>p</em> = 0.63).</div></div><div><h3>Conclusions</h3><div>Patients with focal epilepsy had more cardiac arrhythmias compared with generalised epilepsy that was explained by increased age. This study demonstrates feasibility of longer term ambulatory EEG-ECG monitoring in the outpatient setting for real-world assessment of cardiac arrhythmias in patients with epilepsy.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 90-94"},"PeriodicalIF":2.7,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144271057","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
Genotype and phenotype correlation in epilepsy patients with SMARCA2 variants 癫痫患者SMARCA2变异的基因型和表型相关性
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-05-29 DOI: 10.1016/j.seizure.2025.05.019
Ying Yang , Tianyi Xin , Dan Sun , Xiaoli Zhang , Yan Sun , Jiaxin Zhuang , Hao Chen , Xiujing Wang , Bing Han , Yuehua Zhang
{"title":"Genotype and phenotype correlation in epilepsy patients with SMARCA2 variants","authors":"Ying Yang ,&nbsp;Tianyi Xin ,&nbsp;Dan Sun ,&nbsp;Xiaoli Zhang ,&nbsp;Yan Sun ,&nbsp;Jiaxin Zhuang ,&nbsp;Hao Chen ,&nbsp;Xiujing Wang ,&nbsp;Bing Han ,&nbsp;Yuehua Zhang","doi":"10.1016/j.seizure.2025.05.019","DOIUrl":"10.1016/j.seizure.2025.05.019","url":null,"abstract":"<div><h3>Aim</h3><div>This study aimed to determine the genotype and phenotype correlations for the <em>SMARCA2</em> gene in epilepsy patients.</div></div><div><h3>Method</h3><div>We analysed the genotype-phenotype correlations of 24 patients in our cohort and evaluated 46 epilepsy patients from published studies.</div></div><div><h3>Results</h3><div>In our cohort, 21 variants were identified in 24 patients. Two variants, p.P883L and p.G853R, were identified in two patients. 21 variants were de novo, and 17 were novel. Seizure onset ages ranged from 1 day to 75 months (median age: 15 months). The predominant seizure type was focal seizures (60.9 %). Five patients were diagnosed with developmental epileptic encephalopathy. In our cohort, 52.8 % of epilepsy patients had dental diseases, including widely spaced teeth, fused teeth, and hypodontia. Collectively, in the published studies and our cohort of patients with <em>SMARCA2</em> variants, 77.3 % (51/66) of the variants were located in the SNF2-ATPase domain. Seizures were controlled in 45.8 % (11/24) of the patients in our cohort by valproate or levetiracetam.</div></div><div><h3>Interpretation</h3><div>The variations in <em>SMARCA2</em> in epilepsy patients were predominantly located in the SNF2-ATPase domain. The clinical features of <em>SMARCA2</em>-related epilepsy include seizure onset in infancy, and focal seizures. Dental abnormalities are among the significant phenotypes observed in patients with <em>SMARCA2</em> variants.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 73-83"},"PeriodicalIF":2.7,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144271037","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
Effectiveness and safety of cenobamate in Lennox-Gastaut syndrome: A multicenter real-world study in Spain cenobamate治疗lenox - gastaut综合征的有效性和安全性:一项在西班牙进行的多中心真实世界研究
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-05-27 DOI: 10.1016/j.seizure.2025.05.011
Maria José Aguilar-Amat Prior , Pablo Alonso Singer , Javier Oliva Navarro , Laura Olivie Garcia , Maria Machio Castello , Álvaro Beltran-Corbellini , Álvaro Sánchez-Larsen , Beatriz Parejo-Carbonell , Maria de Toledo-Heras , Alba Vieira Campos , Esther Gonzalez-Villar , Blanca Mercedes-Alvarez , Juan Manuel Escobar-Montalvo
{"title":"Effectiveness and safety of cenobamate in Lennox-Gastaut syndrome: A multicenter real-world study in Spain","authors":"Maria José Aguilar-Amat Prior ,&nbsp;Pablo Alonso Singer ,&nbsp;Javier Oliva Navarro ,&nbsp;Laura Olivie Garcia ,&nbsp;Maria Machio Castello ,&nbsp;Álvaro Beltran-Corbellini ,&nbsp;Álvaro Sánchez-Larsen ,&nbsp;Beatriz Parejo-Carbonell ,&nbsp;Maria de Toledo-Heras ,&nbsp;Alba Vieira Campos ,&nbsp;Esther Gonzalez-Villar ,&nbsp;Blanca Mercedes-Alvarez ,&nbsp;Juan Manuel Escobar-Montalvo","doi":"10.1016/j.seizure.2025.05.011","DOIUrl":"10.1016/j.seizure.2025.05.011","url":null,"abstract":"<div><h3>Objective</h3><div>Lennox-Gastaut syndrome (LGS) is a rare treatment-resistant epilepsy classed as developmental and epileptic encephalopathy (DEE). In this study we investigated the effectiveness and safety of cenobamate (CNB) as adjunctive therapy in adults with LGS under real-world conditions.</div></div><div><h3>Methods</h3><div>We conducted a retrospective analysis of clinical data collected from patients diagnosed with LGS who were prescribed CNB in 8 different sites. Data was sourced from patient clinical records. Effectiveness was evaluated by seizure type (total seizures, focal onset seizures, generalized tonic-clonic seizures [GTCS], drop seizures and atypical absence) and included ≥50 %, ≥75 %, ≥90 % responder rate and seizure freedom rate at 3, 6 and 12month visits. Changes in the number of co-antiseizure medication (co-ASM) were also analyzed. Safety/tolerability was monitored by documenting the incidence of adverse events (AE) and AEs leading to discontinuation.</div></div><div><h3>Results</h3><div>18 patients with LGS were included in the analysis (34.4 % women, mean age 25.2 years, and median number of seizures per month 195 (IQR: 12–1416)). The median of number of prior ASMs and concomitant ASMs were 12 (IQR: 8–16) and 3 (IQR: 2–6) respectively. Median CNB dosages/day was 200 mg (IQR: 50–350) at 3, 6 and 12 months. At 3, 6, and 12 months, 94.4 %, 94.4 % and 83.3 % of participants were retained on CNB treatment, respectively. At the last available visit, the seizure freedom rate was 12.5 %, ≥50 %, ≥75 %, ≥90 % responder rates were 46.2 %, 23.1 %, and 0 %, respectively. The number of co-ASMs was reduced in 36 % of patients. The percentage of patients with AEs and AEs leading to discontinuation was 0 %. The most frequent AEs were somnolence and bradypsychia or dizziness.</div></div><div><h3>Conclusion</h3><div>In this study, CNB demonstrated high effectiveness and good tolerability in patients with LGS when administered in adjuvancy in real-world practice after the failure of multiple ASMs. AEs were frequent but mostly mild-to-moderate.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 84-89"},"PeriodicalIF":2.7,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144271056","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
Treating seizures in SYN1-related epilepsy: a systematic review 治疗syn1相关癫痫发作:系统综述
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-05-26 DOI: 10.1016/j.seizure.2025.05.017
Elisabeth Van Boxstael , Eric Vigneul , Susana Ferrao Santos
{"title":"Treating seizures in SYN1-related epilepsy: a systematic review","authors":"Elisabeth Van Boxstael ,&nbsp;Eric Vigneul ,&nbsp;Susana Ferrao Santos","doi":"10.1016/j.seizure.2025.05.017","DOIUrl":"10.1016/j.seizure.2025.05.017","url":null,"abstract":"<div><div>Introduction: <em>Synapsin1</em>-related epilepsy is a rare entity, in which patients typically present reflex seizures, provoked by contact with water. Moreover, patients carrying a pathogenic variant of the synapsin 1 gene (<em>SYN1</em>) can present developmental delay, behavior disorders, and other types of seizures. While <em>SYN1</em>-related epilepsy becomes better characterized, there is still no consensus on the appropriate antiseizure medication (ASM) to use.</div><div>Materials and methods: To compare ASMs efficacies in this particular syndrome, we performed a systematic literature review according to the PRISMA guidelines by using PubMed and Embase databases. All the studies reflecting the seizure outcome associated with the treatment of <em>SYN1</em>-related epilepsy were included in the present review, except those that were not written in English or were in the forms of poster, commentary, or conference abstract.</div><div>Results: Eight studies and a total of 52 patients with well-documented treatment were retrieved from the literature. The most frequently used ASMs were valproic acid (VPA) (58 %), lamotrigine (LTG) (35 %) and carbamazepine (CBZ) (35 %). Regarding seizure-free patients, the most effective ASMs were lacosamide (LCM) (50 %), oxcarbazepine (OXC) (44 %) and CBZ (38 %). When considering seizure-freedom or significant (≥ 50 %) seizure reduction, the best treatment is LTG (63 %), followed by LCM (50 %) and CBZ (50 %). LTG, CBZ, OXC and LCM seem to be associated with a more favorable seizure outcome compared to levetiracetam (LEV) or VPA, with a statistically significant difference in terms of seizure reduction (<em>p</em> = 0.028) and seizure freedom for patients carrying a non-truncating variant (<em>p</em> = 0.047).</div><div>Conclusion: Based on our systematic literature review, patients with <em>SYN1</em>-related epilepsy show better seizure frequency reduction when treated with LCM, LTG, CBZ, or OXC, compared to VPA and LEV, despite VPA being the most prescribed anti-seizure medication for this syndrome. Hence, sodium channel blockers appear to represent the best therapeutic option for these patients.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 105-112"},"PeriodicalIF":2.7,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144307909","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
Cenobamate use in pregnancy: A case report 妊娠期使用Cenobamate 1例报告
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-05-24 DOI: 10.1016/j.seizure.2025.05.016
Tiara Paul , Maromi Nei
{"title":"Cenobamate use in pregnancy: A case report","authors":"Tiara Paul ,&nbsp;Maromi Nei","doi":"10.1016/j.seizure.2025.05.016","DOIUrl":"10.1016/j.seizure.2025.05.016","url":null,"abstract":"","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 26-28"},"PeriodicalIF":2.7,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144212760","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
Corrigendum to "Efficacy and safety of Cenobamate: a multicenter, retrospective evaluation of real-world clinical practice" [Seizure: European Journal of Epilepsy 130 (2025) 25-31]. “Cenobamate的疗效和安全性:一项多中心、回顾性的临床实践评估”的更正[癫痫:欧洲癫痫杂志130(2025)25-31]。
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-05-24 DOI: 10.1016/j.seizure.2025.05.008
Magdalena Bosak, Hanna Podraza, Dorota Włoch-Kopeć, Andrzej Rysz, Kamil Wężyk, Katarzyna Grabska-Radzikowska, Piotr Sobolewski, Tomasz Siwek, Iwona Kurkowska-Jastrzębska, Monika Służewska-Niedźwiedź, Katarzyna Sulima, Lech Kipiński, Lidia Kiryła, Katarzyna Stopińska, Elżbieta Płonka-Półtorak, Justyna Tabaka-Pradela, Magdalena Konopko, Agnieszka Meller, Monika Chorąży, Maja Kopytek-Beuzen, Dorota Dzianott-Pabijan, Małgorzata Klimas, Krzysztof Nicpoń, Łukasz Jasek, Karolina Machowska-Sempruch, Katarzyna Fuksa, Katarzyna Zawiślak-Fornagiel
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引用次数: 0
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