Seizure-European Journal of Epilepsy最新文献

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Effects of anti-seizure medications on resting-state functional networks in juvenile myoclonic epilepsy: An EEG microstate analysis 抗癫痫药物对青少年肌阵挛性癫痫静息状态功能网络的影响:脑电图微态分析。
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-01-01 DOI: 10.1016/j.seizure.2024.12.004
Ying Li , Yibo Zhao , Yanan Chen , Mingxian Meng , Zhe Ren , Zongya Zhao , Na Wang , Ting Zhao , Beijia Cui , Mingmin Li , Jin Liu , Qi Wang , Jiuyan Han , Bin Wang , Xiong Han
{"title":"Effects of anti-seizure medications on resting-state functional networks in juvenile myoclonic epilepsy: An EEG microstate analysis","authors":"Ying Li ,&nbsp;Yibo Zhao ,&nbsp;Yanan Chen ,&nbsp;Mingxian Meng ,&nbsp;Zhe Ren ,&nbsp;Zongya Zhao ,&nbsp;Na Wang ,&nbsp;Ting Zhao ,&nbsp;Beijia Cui ,&nbsp;Mingmin Li ,&nbsp;Jin Liu ,&nbsp;Qi Wang ,&nbsp;Jiuyan Han ,&nbsp;Bin Wang ,&nbsp;Xiong Han","doi":"10.1016/j.seizure.2024.12.004","DOIUrl":"10.1016/j.seizure.2024.12.004","url":null,"abstract":"<div><h3>Objective</h3><div>Juvenile myoclonic epilepsy (JME) is associated with large-scale brain network dysfunction. This study aims to investigate how anti-seizure medication (ASM) treatment alters resting-state functional networks in JME patients through resting-state EEG microstate analysis.</div></div><div><h3>Methods</h3><div>Ninety-six subjects participated in this study: 24 healthy controls (HC), 29 newly diagnosed JME patients who had not started ASMs therapy (JME-NM), and 43 JME patients on ASMs treatment with effective seizure control (JME-M). EEG data were collected for 10 min while participants were awake and resting with their eyes closed, using a standard 19-channel recording system. EEG topographies were categorized into four microstate classes (A, B, C, D), and parameters such as mean duration, occurrence rate, time coverage, and transition probabilities between microstates were computed and compared among the three groups. Advanced statistical methods were employed to ensure the robustness and validity of the findings.</div></div><div><h3>Results</h3><div>Significant alterations in EEG microstate characteristics were observed in untreated JME patients (JME-NM) compared to both healthy controls and treated patients. Microstate B had a markedly reduced mean duration in the JME-NM group, while microstate A displayed an increased occurrence rate and greater time coverage. Transition probabilities between specific microstates, such as from A to C, A to D, and B to C, were also significantly different in the JME-NM group. The normalization of these parameters in the JME-M group suggests that ASMs effectively stabilize altered brain networks, potentially mitigating the pathophysiological disruptions associated with JME.</div></div><div><h3>Conclusion</h3><div>This study demonstrates that ASMs effectively normalize disruptions in sensory-motor and visual networks in JME patients. EEG microstate analysis provides a dynamic view of brain network alterations and offers potential as a biomarker for the diagnosis and monitoring of JME, as well as for evaluating treatment response. These findings advance our understanding of the neurophysiological mechanisms underlying JME.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 48-56"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ramadan fasting in adolescents with epilepsy: Seizure control and behavioral outcome 青少年癫痫患者斋月禁食:癫痫发作控制和行为结果。
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-01-01 DOI: 10.1016/j.seizure.2024.12.007
Rehab Magdy , Nirmeen Kishk , Salsabil Abo Al-Azayem , Mona Hussein , Imane A. Yassine , Mennat-Allah Tarek , Eman Hany Elsebaie , Mohamed A. Abdeltwab , Alshimaa S. Othman
{"title":"Ramadan fasting in adolescents with epilepsy: Seizure control and behavioral outcome","authors":"Rehab Magdy ,&nbsp;Nirmeen Kishk ,&nbsp;Salsabil Abo Al-Azayem ,&nbsp;Mona Hussein ,&nbsp;Imane A. Yassine ,&nbsp;Mennat-Allah Tarek ,&nbsp;Eman Hany Elsebaie ,&nbsp;Mohamed A. Abdeltwab ,&nbsp;Alshimaa S. Othman","doi":"10.1016/j.seizure.2024.12.007","DOIUrl":"10.1016/j.seizure.2024.12.007","url":null,"abstract":"<div><h3>Objectives</h3><div>Data about the effect of Ramadan fasting on seizure control among adolescents with epilepsy (AWE) is scarce. Several psycho-behavioral problems have also been encountered in this teenage group. This study aimed to assess seizure frequency and behavioral outcomes after Ramadan fasting in a sample of AWE</div></div><div><h3>Methods</h3><div>In this prospective study, AWE who completed fasting during Ramadan 2024 were evaluated regarding the seizure frequency of each type during Shaban (the month immediately preceding Ramadan) and Ramadan. Three questionnaires were requested to be answered at the end of two months. They were Patient Health Questionnaire (PHQ-9), Modified Overt Aggression Scale (MOAS), and Barratt Impulsiveness Scale–Short Form (BIS-11-SF) for assessment of depression, aggression, and impulsivity, respectively</div></div><div><h3>Results</h3><div>One hundred twenty AWE, with a median age of 15 and IQR 13–17, were evaluated. There was a statistically significant reduction in seizure frequency regarding focal onset seizures during Ramadan compared to Shaaban (P 0.009), as well as generalized non-motor (absence) seizures (P 0.027). The MOAS-total scores significantly reduced during Ramadan than Shaaban (P 0.003), as well as the scores of non-planning impulsivity of BIS-11-SF (P 0.005). On the other hand, depression assessed by PHQ-9 did not significantly differ between the two months</div></div><div><h3>Conclusion</h3><div>Fasting Ramadan is associated with better control of multiple seizure types, including focal and generalized-onset non-motor (absence) seizures, besides psycho-behavioral aspects of aggression &amp; non-planning impulsivity, without worsening of other seizure types nor depression, among AWE.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 85-88"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928246","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
Drug-refractory epilepsy due to a novel CLN5 mutation: A report of three patients from an Indian family 一种新的CLN5突变引起的药物难治性癫痫:来自一个印度家庭的三例患者的报告。
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-01-01 DOI: 10.1016/j.seizure.2024.11.017
Shiny Joy , Ayush Agarwal , Jupita Handique , Mahino Fatima , Divyani Garg , Pooja Sharma , Roopa Rajan , Ajay Garg , Mohd Faruq , Achal K. Srivastava
{"title":"Drug-refractory epilepsy due to a novel CLN5 mutation: A report of three patients from an Indian family","authors":"Shiny Joy ,&nbsp;Ayush Agarwal ,&nbsp;Jupita Handique ,&nbsp;Mahino Fatima ,&nbsp;Divyani Garg ,&nbsp;Pooja Sharma ,&nbsp;Roopa Rajan ,&nbsp;Ajay Garg ,&nbsp;Mohd Faruq ,&nbsp;Achal K. Srivastava","doi":"10.1016/j.seizure.2024.11.017","DOIUrl":"10.1016/j.seizure.2024.11.017","url":null,"abstract":"<div><h3>Introduction</h3><div>Neuronal Ceroid Lipofuscinosis (NCL) are a group of lysosomal storage disorders characterised by progressive neurodegeneration caused by an accumulation of ceroid lipopigment in lysosomes of neurons and other cell types. Adult-onset NCL (Kufs disease) differs from childhood forms by its later onset and preserved vision. Type A (Kufs A) presents as progressive myoclonus epilepsy (PME), while Type B (Kufs B) manifests as dementia with motor involvement. Both subtypes have distinct causative genes.</div></div><div><h3>Methods</h3><div>We have described 3 siblings with genetically confirmed novel pathogenic <em>CLN5</em> subtype who presented with developmental regression, drug-refractory myoclonic epilepsy, and dementia (Kufs A).</div></div><div><h3>Results</h3><div>We have presented 3 siblings with adult onset NCL with Kufs A (not Kufs B) phenotype, which has been rarely documented.</div></div><div><h3>Conclusion</h3><div>Genotypic-phenotypic variations are increasingly being reported for NCL. We have described three patients from a family with <em>CLN5</em> subtype who had prominent drug refractory myoclonic epilepsy, which is extremely rare.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 66-70"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142819763","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
Elementary school enrollment after ACTH therapy for patients with infantile epileptic spasms syndrome 小学入学后ACTH治疗对婴儿癫痫痉挛综合征患者的影响。
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-01-01 DOI: 10.1016/j.seizure.2024.12.002
Ryuki Matsuura , Shin-ichiro Hamano , Yuko Hirata , Azusa Oba , Haruhito Horita , Hirokazu Takeuchi , Reiko Koichihara , Kenjiro Kikuchi , Akira Oka
{"title":"Elementary school enrollment after ACTH therapy for patients with infantile epileptic spasms syndrome","authors":"Ryuki Matsuura ,&nbsp;Shin-ichiro Hamano ,&nbsp;Yuko Hirata ,&nbsp;Azusa Oba ,&nbsp;Haruhito Horita ,&nbsp;Hirokazu Takeuchi ,&nbsp;Reiko Koichihara ,&nbsp;Kenjiro Kikuchi ,&nbsp;Akira Oka","doi":"10.1016/j.seizure.2024.12.002","DOIUrl":"10.1016/j.seizure.2024.12.002","url":null,"abstract":"<div><h3>Purpose</h3><div>Infantile epileptic spasms syndrome (IESS) often has a severe neurodevelopmental prognosis. However, few studies have examined the aspect of elementary school enrollment. This study evaluated elementary school enrollment after adrenocorticotropic hormone (ACTH) therapy in patients with IESS.</div></div><div><h3>Methods</h3><div>We retrospectively evaluated the elementary school enrollment of patients with IESS who were administered ACTH at the Saitama Children's Medical Center between January 1993 and August 2024. We evaluated elementary school enrollment, seizure outcomes, motor development, and intellectual development at the time of school enrollment in the ACTH responder and nonresponder groups. Response was defined as complete remission of epileptic spasms and no other seizure occurrence from ACTH administration initiation until the age of 6 years.</div></div><div><h3>Results</h3><div>In total, 116 patients (62 male) were included in this study. The median age at IESS onset was 5 (range, 0–24) months. Twenty-seven patients (23.3 %) maintained complete remission of epileptic spasms from ACTH initiation to elementary school enrollment. The responder group had a significantly higher rate of regular class attendance (48.1 %) and exhibited normal intelligence or developmental quotient (33.3 %) compared with the nonresponder group (<em>p</em> &lt; 0.01 and <em>p</em> &lt; 0.01, respectively). Patients with an unknown etiology were more likely to attend regular classes (37.5 %). The median age of the last hospital visit was 13 (6.0–24.4) years. Lennox-Gastaut syndrome was diagnosed in 5.2 % (6/116) of patients at the last visit.</div></div><div><h3>Conclusion</h3><div>Our findings can help pediatricians predict elementary school enrollment and neurodevelopmental outcomes in patients with IESS receiving ACTH therapy.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 80-84"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869785","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
Prevalence of posttraumatic stress disorder in adults with epilepsy: A meta-analysis
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-12-24 DOI: 10.1016/j.seizure.2024.12.013
Deniz Ertan , Alexis Tarrada , Wissam El-Hage , Stephane Sanchez , Emeline Four , Nicolas Mezouar , Louis Maillard , Jan Chrusciel , Coraline Hingray
{"title":"Prevalence of posttraumatic stress disorder in adults with epilepsy: A meta-analysis","authors":"Deniz Ertan ,&nbsp;Alexis Tarrada ,&nbsp;Wissam El-Hage ,&nbsp;Stephane Sanchez ,&nbsp;Emeline Four ,&nbsp;Nicolas Mezouar ,&nbsp;Louis Maillard ,&nbsp;Jan Chrusciel ,&nbsp;Coraline Hingray","doi":"10.1016/j.seizure.2024.12.013","DOIUrl":"10.1016/j.seizure.2024.12.013","url":null,"abstract":"<div><div>Many studies highlight the increased risk of posttraumatic stress disorder (PTSD) in people with epilepsy (PWE). Despite the presence of significant research focusing on PTSD in PWE, the methodologies and results of these studies are heterogenous. Therefore, we aim to synthetize the literature and assess the prevalence of PTSD in PWE. We conducted a systematic literature to calculate a pooled prevalence of PTSD in adults with epilepsy. If the studies included patients with functional/dissociative seizure (FDS), a pooled prevalence of PTSD was also calculated for this group. The literature search yielded 10,732 articles, of which 38 studies met our inclusion criteria. High heterogeneity in PTSD prevalence estimates was found across studies for both epilepsy (I<sup>2</sup>= 97.0 %) and FDS (I<sup>2</sup> = 90.7 %). The pooled prevalence of PTSD among the epilepsy group (<em>n</em> = 5545) was 7.7 % [95 % CI: 5.2 %; 11.2 %], whereas for the FDS group (<em>n</em> = 1409), it was 33.4 % [95 % CI: 23.4 %; 45.2 %]. Our sensitivity analysis, including only studies with semi-structured interviews and validated questionnaires, found a pooled PTSD prevalence of 6.7 % [95 % CI: 4.3 to 10.3] in epilepsy patients and 33.1 % [95 % CI: 21.8 to 46.8] in FDS patients. Our study underscores the importance of systematically evaluating traumatic experiences as using standardized, validated scales combined with structured clinical interviews for PTSD diagnosis.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"126 ","pages":"Pages 32-42"},"PeriodicalIF":2.7,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143285077","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
Modified Atkins Diet versus low glycemic index treatment in children with drug-resistant epilepsy: A systematic review and meta-analysis. 改良阿特金斯饮食与低血糖指数治疗对儿童耐药癫痫的影响:一项系统回顾和荟萃分析
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-12-04 DOI: 10.1016/j.seizure.2024.12.001
Indar Kumar Sharawat, Pragnya Panda, Lesa Dawman, Diksha Gupta, Prateek Kumar Panda
{"title":"Modified Atkins Diet versus low glycemic index treatment in children with drug-resistant epilepsy: A systematic review and meta-analysis.","authors":"Indar Kumar Sharawat, Pragnya Panda, Lesa Dawman, Diksha Gupta, Prateek Kumar Panda","doi":"10.1016/j.seizure.2024.12.001","DOIUrl":"https://doi.org/10.1016/j.seizure.2024.12.001","url":null,"abstract":"<p><strong>Introduction: </strong>Both the Modified Atkins Diet (MAD) and Low Glycemic Index Treatment(LGIT) are considered less restrictive than the ketogenic diet and effective in children with drug-resistant epilepsy(DRE). Several randomized controlled trials (RCTs) have compared these two diets.</p><p><strong>Methods: </strong>All RCTs directly comparing MAD and LGIT for DRE were included in the review. We pooled estimates for percentage seizure frequency reduction, the number of participants with seizure freedom, ≥90 % and ≥50 % reduction in seizure frequency, as well as changes in cognition, behavior, and adverse effects in both groups.</p><p><strong>Results: </strong>Three RCTs with 265 participants were included. The pooled estimates for the number of children achieving seizure freedom, ≥50 %, and ≥90 % reduction in seizure frequency post-intervention, as well as weekly percentage seizure frequency reduction, were comparable between the MAD and LGIT groups(RR: 1.24 [95 % CI: 0.71-2.16]; I²=0 %, p = 0.45, RR: 0.86 [95 % CI: 0.57-1.29]; I²=62 %, p = 0.45, RR: 1.35 [95 % CI: 0.82-2.21]; I²=5 %, p = 0.24, and MD:6.5 [95 % CI:13.8 to 0.6]; I²=45 %, p = 0.07). The number of children showing improvement in cognition and changes in behavioral comorbidities were also comparable between the groups(p = 0.60 and 0.21). However, the MAD group had a higher incidence of adverse effects(RR: 1.37 [95 % CI: 1.12-1.68]; I²=42 %, p = 0.002), though the number of participants experiencing serious adverse effects was similar in both groups(RR: 1.68 [95 % CI: 0.71-3.99]; I²=0 %, p = 0.24). Adherence rates to the allocated intervention were numerically higher in the LGIT group(p = 0.73).</p><p><strong>Conclusion: </strong>Both MAD and LGIT are comparable in efficacy, but LGIT is associated with fewer adverse effects.</p>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142873313","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
MRI in older patients-A focused review. MRI在老年患者中的应用——重点综述。
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-11-30 DOI: 10.1016/j.seizure.2024.11.015
Stephan Seiler, Christian Enzinger
{"title":"MRI in older patients-A focused review.","authors":"Stephan Seiler, Christian Enzinger","doi":"10.1016/j.seizure.2024.11.015","DOIUrl":"https://doi.org/10.1016/j.seizure.2024.11.015","url":null,"abstract":"<p><p>MRI has considerably increased our pathophysiological knowledge of age-related brain abnormalities. Brain abnormalities regularly seen on MRI of older adults are atrophy, and changes related to small vessel disease (SVD). SVD-related changes include white matter hyperintensities (WMH), lacunes, microbleeds, microinfarcts and perivascular spaces. While atrophy, WMH and lacunes are recognized as important contributors to cognitive decline and dementia, relationships are less clear for microbleeds, microinfarcts and perivascular spaces. Vascular risk factors are considered critical in the development of these changes and being potentially modifiable have become increasingly interesting to researchers and clinicians alike. Managing vascular risk early, particularly hypertension, is a key factor in slowing down the evolution of age-related brain abnormalities and decelerate their detrimental cognitive consequences. Cognition and visible brain abnormalities have a complex relationship, which reaches far beyond what we can understand using standard MRI. Remote effects of lesions and associated- as well as independent network changes likely explain much of the different cognitive trajectories observed with aging. Because of the versatility of MRI in the diagnostic of various diseases, including epilepsy, incident signs of brain aging will be encountered ever more frequently on standard MRI of older adults. To facilitate understanding and ultimately reporting these changes to patients, this review will give a brief overview of MRI findings encountered on MRI of older people. We will discuss their pathology, risk factors, and relationships with cognition. Special emphasis will be given to more recent developments, including remote effects of lesions, and effects on the structural brain network. Relationships between MRI findings in older people and epilepsy will be discussed as well.</p>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142808019","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
Drug arrows in the quiver-antiseizure, antiepileptic and neuroprotective medication: Treatment and future aspects. A focused review. 药物箭箭——抗癫痫、抗癫痫和神经保护药物:治疗及未来展望。重点回顾。
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-11-30 DOI: 10.1016/j.seizure.2024.11.016
Elinor Ben-Menachem
{"title":"Drug arrows in the quiver-antiseizure, antiepileptic and neuroprotective medication: Treatment and future aspects. A focused review.","authors":"Elinor Ben-Menachem","doi":"10.1016/j.seizure.2024.11.016","DOIUrl":"https://doi.org/10.1016/j.seizure.2024.11.016","url":null,"abstract":"<p><p>Drug discovery for the treatment of epilepsy is entering a new era especially with the advancement of genetic therapies as disease modifying, antiepileptogenic therapies. Even new ideas about re-purposed medication with purposed epileptogenic properties have been suggested. The possibilities are enormous, and it is encouraging that so many ideas are flourishing. The focus of this review is to discuss where to concentrate efforts to improve the lives of people with epilepsy (PWE) with medical treatment, especially the elderly who have many challenges besides just seizures. Thus, the arrow needs to be not only focused on DRE patients, but to try to redirect the arrow to prevent the development of seizures before onset as well as preventing refractoriness at the very beginning herald by the first seizures.</p>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142856490","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
Diagnostic yields of genetic testing and related benefits in infantile epileptic spasms syndrome: A systematic review and meta-analysis 婴儿癫痫痉挛综合征基因检测的诊断率及相关益处:系统回顾和荟萃分析
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-11-24 DOI: 10.1016/j.seizure.2024.11.014
Xinyu Feng , Jie Yang , Ningning Chen , Shaojun Li , Tingsong Li
{"title":"Diagnostic yields of genetic testing and related benefits in infantile epileptic spasms syndrome: A systematic review and meta-analysis","authors":"Xinyu Feng ,&nbsp;Jie Yang ,&nbsp;Ningning Chen ,&nbsp;Shaojun Li ,&nbsp;Tingsong Li","doi":"10.1016/j.seizure.2024.11.014","DOIUrl":"10.1016/j.seizure.2024.11.014","url":null,"abstract":"<div><h3>Background</h3><div>Diagnostic yields for infantile epileptic spasms syndrome (IESS) are notably heterogeneous across different testing modalities and studies. To investigate the proportion of individuals with IESS harboring causative/pathogenic genetic variants identified using whole-exome sequencing (WES), multi-gene panels (MGPs), and chromosomal microarray (CMA), thereby providing evidence to inform guidelines for genetic testing strategies.</div></div><div><h3>Methods</h3><div>The study team searched PubMed, Embase, and Cochrane Central Register of Controlled Trials between January 2012- October2023. Data were extracted and synthesized by two investigators following the preferred reporting items for systematic reviews and meta-analyses guideline. The primary outcome was the pooled diagnostic rate of individual WES, MGPs, and CMA across studies. Subgroup analyses were performed based on the inclusion of cases with tuberous sclerosis complex and the number of genes included on MGPs.</div></div><div><h3>Results</h3><div>Our study included 30 studies, involving 2 738 participants. The diagnostic rates in IESS for WES (13 studies, <em>n</em> = 799), MGPs (13 studies, <em>n</em> = 1 117), and CMA (13 studies, <em>n</em> = 629) were 26 % (95 % CI = 21 %–31 %), 20 % (95 % CI = 15 %–27 %), and 14 % (95 % CI = 11 %–16 %), respectively. WES and MGPs showed comparable diagnostic yields (<em>P</em> = 0.34). Our results indicated that 61.6 % of individuals with genetic IESS may potentially benefit from genetic diagnosis in terms of clinical management.</div></div><div><h3>Conclusions</h3><div>Our results showed that WES and MGPs exhibited comparable genetic diagnostic yields. Therefore, either method could be equally recommended as a first-tier testing approach for IESS cases with suspected genetic or unknown etiologies, especially considering the potential clinical benefits derived from genetic diagnosis.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 18-24"},"PeriodicalIF":2.7,"publicationDate":"2024-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142721246","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
Clinical profiles and prognostic factors in reflex epilepsy: Insights from a Taiwanese cohort 反射性癫痫的临床特征和预后因素:来自台湾队列的见解
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-11-20 DOI: 10.1016/j.seizure.2024.11.013
Chih-Han Lin , Mei-Yun Cheng , Wei-En Johnny Tseng , Chun-Wei Chang , Chih-Hong Lee , Tony Wu , Hsing-I Chiang , Ting-Wei Liao , Wey-Ran Lin , Chun-Jing Liu , Po-Ru Chen , Siew-Na Lim
{"title":"Clinical profiles and prognostic factors in reflex epilepsy: Insights from a Taiwanese cohort","authors":"Chih-Han Lin ,&nbsp;Mei-Yun Cheng ,&nbsp;Wei-En Johnny Tseng ,&nbsp;Chun-Wei Chang ,&nbsp;Chih-Hong Lee ,&nbsp;Tony Wu ,&nbsp;Hsing-I Chiang ,&nbsp;Ting-Wei Liao ,&nbsp;Wey-Ran Lin ,&nbsp;Chun-Jing Liu ,&nbsp;Po-Ru Chen ,&nbsp;Siew-Na Lim","doi":"10.1016/j.seizure.2024.11.013","DOIUrl":"10.1016/j.seizure.2024.11.013","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Purpose&lt;/h3&gt;&lt;div&gt;To investigate the clinical characteristics, treatment, and prognosis of patients with reflex epilepsies in Taiwan.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Methods&lt;/h3&gt;&lt;div&gt;Patients with reflex epilepsies (RE) induced by specific trigger factors from July 2000 to May 2024, were recruited at Chang Gung Memorial Hospital, Linkou, Taiwan. All patients had at least 12 months of follow-up. Demographic data, antiseizure medication (ASM) treatment, stimulus avoidance, and seizure outcome were analyzed. We further divided the patients into extrinsic and intrinsic RE groups based on the nature of stimuli. We also categorized them into ongoing seizure and seizure-free groups based on their seizure control. Fisher's exact test and Independent-Samples Mann-Whitney U Test were used to evaluate associations between clinical factors and prognosis. Multivariate logistic regression analysis was further carried out to determine the predictors of seizure outcomes.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;In this study, 81 patients with reflex epilepsies (RE) were analyzed, focusing on those with extrinsic (photosensitive) and intrinsic (Mah-Jong-related) seizure triggers. Patients with extrinsic RE were significantly younger (mean age 40.4 years) than those with intrinsic RE (mean age 64.4 years, &lt;em&gt;p&lt;/em&gt; &lt; 0.001) and had a notably earlier onset of reflex seizures (21.9 years vs. 49.7 years, &lt;em&gt;p&lt;/em&gt; &lt; 0.001). A higher proportion of extrinsic RE patients experienced spontaneous seizures (98 %) compared to intrinsic RE (40 %). Abnormal EEG findings were more prevalent in the extrinsic group (94.1 %) than in the intrinsic group (66.7 %). Ninety-eight percent of patients with extrinsic RE were treated with antiseizure medications (ASMs), with an average of 2.2 ASMs per patient, compared to 73.3 % and 1.2 ASMs in patients with intrinsic RE. Furthermore, the rate of stimulus avoidance was significantly higher among those with intrinsic RE, at 43.3 % compared to 3.9 % in the extrinsic group (&lt;em&gt;p&lt;/em&gt; &lt; 0.001). Both groups achieved similar seizure-free outcomes (68.6 % in extrinsic vs. 63.3 % in intrinsic RE), but stimulus avoidance is independently associated with a reduced likelihood of ongoing seizures (&lt;em&gt;p&lt;/em&gt; = 0.038), with an odds ratio (OR) of 0.110.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusion&lt;/h3&gt;&lt;div&gt;Intrinsic RE exhibited a later onset of spontaneous and reflex seizures than extrinsic RE. Avoidance of seizure triggers was more frequent in intrinsic RE and among seizure-free patients, suggesting that stimulus avoidance is crucial for better seizure control and prognosis. On the other hand, patients with extrinsic RE had a lower rate of trigger avoidance but were more likely to receive ASM treatment, suggesting ASM is crucial for managing seizures due to challenges in avoiding environmental triggers. Despite these differences, both groups achieved similar seizure-free outcomes, underscoring the necessity for tailored management strategies based on the type ","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 39-47"},"PeriodicalIF":2.7,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142743178","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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