Seizure-European Journal of Epilepsy最新文献

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Does treatment in an epilepsy clinic affect epilepsy-related admissions? 癫痫诊所的治疗会影响与癫痫相关的入院治疗吗?
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-12-09 DOI: 10.1016/j.seizure.2024.12.006
Revital Gandelman-Marton, Jacques Theitler
{"title":"Does treatment in an epilepsy clinic affect epilepsy-related admissions?","authors":"Revital Gandelman-Marton, Jacques Theitler","doi":"10.1016/j.seizure.2024.12.006","DOIUrl":"https://doi.org/10.1016/j.seizure.2024.12.006","url":null,"abstract":"<p><strong>Background: </strong>Epilepsy-related emergency hospitalizations are associated with risks to patients. Neurologist ambulatory care can improve seizure control and decrease the rates of ED visits and emergency hospitalizations.</p><p><strong>Aims: </strong>To evaluate the etiologies for emergency epilepsy-related admissions in patients with and without prior epilepsy clinic follow-up, and to identify possible factors that may influence admission rates.</p><p><strong>Methods: </strong>A retrospective review of the computerized database and the medical records of all the people with epilepsy who presented to our outpatient epilepsy clinic following an epilepsy-related admission during a 10-year period (2012 - 2021).</p><p><strong>Results: </strong>The study group included 134 patients with epilepsy aged 18- 85 years who presented to our outpatient epilepsy clinic following an epilepsy-related admission. Patients with pre-admission follow up in the epilepsy clinic (n = 67) were less likely to have epilepsy-related admissions during subsequent post-admission follow-up (p = 0.024), had fewer prior admissions related to antiseizure medication (ASM) discontinuation, ASM nonadherence or sub-therapeutic ASM serum levels (p = 0.038), were more likely to continue epilepsy clinic follow-up (p = 0.036), and received more ASMs before admission (p = 0.0001), at the first post-admission visit (p = 0.0001) and at last follow-up (p = 0.015).</p><p><strong>Conclusions: </strong>Epilepsy clinic follow-up may affect the rate of epilepsy and ASM related admissions. Further studies are needed to evaluate the effects of ASM polytherapy and possibly higher doses of ASMs on the rates of epilepsy-related admissions.</p>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"71-74"},"PeriodicalIF":2.7,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824694","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.
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-12-07 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, Shin-Ichiro Hamano, Yuko Hirata, Azusa Oba, Haruhito Horita, Hirokazu Takeuchi, Reiko Koichihara, Kenjiro Kikuchi, Akira Oka","doi":"10.1016/j.seizure.2024.12.002","DOIUrl":"https://doi.org/10.1016/j.seizure.2024.12.002","url":null,"abstract":"<p><strong>Purpose: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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 (p < 0.01 and p < 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.</p><p><strong>Conclusion: </strong>Our findings can help pediatricians predict elementary school enrollment and neurodevelopmental outcomes in patients with IESS receiving ACTH therapy.</p>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"80-84"},"PeriodicalIF":2.7,"publicationDate":"2024-12-07","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
Evidence of small vessel disease in patients with juvenile myoclonic epilepsy based on the peak width of skeletonized mean diffusivity. 根据骨架化平均扩散率峰值宽度得出的幼年肌阵挛性癫痫患者小血管疾病的证据。
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-12-04 DOI: 10.1016/j.seizure.2024.12.003
Dong Ah Lee, Ho-Joon Lee, Kang Min Park
{"title":"Evidence of small vessel disease in patients with juvenile myoclonic epilepsy based on the peak width of skeletonized mean diffusivity.","authors":"Dong Ah Lee, Ho-Joon Lee, Kang Min Park","doi":"10.1016/j.seizure.2024.12.003","DOIUrl":"https://doi.org/10.1016/j.seizure.2024.12.003","url":null,"abstract":"<p><strong>Objectives: </strong>Peak width of skeletonized mean diffusivity (PSMD) is a novel marker of white matter changes probably due to small vessel disease. This study aimed to investigate the presence of white matter changes in juvenile myoclonic epilepsy (JME) using PSMD.</p><p><strong>Methods: </strong>We enrolled patients with JME and age- and sex-matched healthy controls. We performed diffusion tensor imaging (DTI) using a three tesla magnetic resonance imaging scanner. We measured the PSMD based on DTI in several steps, including preprocessing, skeletonization, application of a custom mask, and histogram analysis, using the FSL program. We compared the PSMD between patients with JME and healthy controls and the PSMD according to the antiseizure medication (ASM) response among the patients with JME. We also performed a correlation analysis between the PSMD and clinical factors in patients with JME.</p><p><strong>Results: </strong>We enrolled the 42 patients with newly diagnosed JME and 42 healthy controls. There was a significant difference in the PSMD between patients with JME and healthy controls. PSMD was higher in patients with JME than in healthy controls (2.234 vs. 2.085 × 10<sup>-4</sup> mm<sup>2</sup>/s, p = 0.013). In addition, the PSMD was higher in patients with JME who were ASM poor responders than in those who were ASM good responders (2.586 vs. 2.176 × 10<sup>-4</sup> mm<sup>2</sup>/s, p = 0.007). The PSMD was positively correlated with age (r = 0.364, p = 0.017).</p><p><strong>Conclusion: </strong>Patients with JME have a higher PSMD than healthy controls, indicating evidence of white matter changes in patients with JME. In addition, white matter changes are related to the ASM response in patients with JME. This finding also highlights the potential of PSMD as a marker for detecting white matter changes probably due to small vessel disease in patients with epilepsy, which would require further studies.</p>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"75-79"},"PeriodicalIF":2.7,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830565","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
Effects of anti-seizure medications on resting-state functional networks in juvenile myoclonic epilepsy: An EEG microstate analysis.
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-12-04 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, 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","doi":"10.1016/j.seizure.2024.12.004","DOIUrl":"https://doi.org/10.1016/j.seizure.2024.12.004","url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"48-56"},"PeriodicalIF":2.7,"publicationDate":"2024-12-04","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
MRI in older patients-A focused review.
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.
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
Hippocampal deep brain stimulation for drug-resistant epilepsy: Insights from bilateral temporal lobe and posterior epilepsy cases.
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-11-29 DOI: 10.1016/j.seizure.2024.11.018
Seung Ho Choo, Hea Ree Park, Seunghoon Lee, Jung-Il Lee, Eun Yeon Joo, Dae-Won Seo, Seung Bong Hong, Young-Min Shon
{"title":"Hippocampal deep brain stimulation for drug-resistant epilepsy: Insights from bilateral temporal lobe and posterior epilepsy cases.","authors":"Seung Ho Choo, Hea Ree Park, Seunghoon Lee, Jung-Il Lee, Eun Yeon Joo, Dae-Won Seo, Seung Bong Hong, Young-Min Shon","doi":"10.1016/j.seizure.2024.11.018","DOIUrl":"https://doi.org/10.1016/j.seizure.2024.11.018","url":null,"abstract":"<p><strong>Purpose: </strong>This study evaluates the long-term efficacy of hippocampal deep brain stimulation (Hip-DBS) in patients with drug-resistant epilepsy (DRE), specifically focusing on bilateral temporal lobe epilepsy (BTLE) and posterior epilepsy (PE).</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 15 DRE patients (11 BTLE, 4 PE) who underwent bilateral Hip-DBS at Samsung Medical Center over an eight-year period. Medical records, seizure diaries, and neuropsychological assessments were reviewed. The surgical and follow-up protocols were adapted from our previous clinical research.</p><p><strong>Results: </strong>The median seizure reduction rate was 77.8 % for disabling seizures (DS) and 47.9 % for non-disabling seizures (NDS). Subgroup analysis revealed a 77.8 % reduction in DS for BTLE patients and 68.8 % for PE patients. The overall responder rate was 86.7 % for DS and 50 % for NDS. Neuropsychological evaluations showed stable cognitive functions post-treatment, with a non-significant trend towards improvement in non-verbal and visuo-spatial cognitive domains.</p><p><strong>Conclusion: </strong>This study provides preliminary evidence supporting the efficacy of Hip-DBS in reducing seizure frequency in both BTLE and PE patients, with a more pronounced effect on disabling seizures. The potential cognitive preservation and possible enhancement in specific domains warrant further investigation. Despite limitations such as the retrospective design and reliance on self-reported seizure frequencies, these findings encourage further exploration of Hip-DBS as a treatment modality for DRE, particularly in cases where resective surgery is contraindicated.</p>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"57-65"},"PeriodicalIF":2.7,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142814778","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.
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2024-11-29 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, Ayush Agarwal, Jupita Handique, Mahino Fatima, Divyani Garg, Pooja Sharma, Roopa Rajan, Ajay Garg, Mohd Faruq, Achal K Srivastava","doi":"10.1016/j.seizure.2024.11.017","DOIUrl":"https://doi.org/10.1016/j.seizure.2024.11.017","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>We have described 3 siblings with genetically confirmed novel pathogenic CLN5 subtype who presented with developmental regression, drug-refractory myoclonic epilepsy, and dementia (Kufs A).</p><p><strong>Results: </strong>We have presented 3 siblings with adult onset NCL with Kufs A (not Kufs B) phenotype, which has been rarely documented.</p><p><strong>Conclusion: </strong>Genotypic-phenotypic variations are increasingly being reported for NCL. We have described three patients from a family with CLN5 subtype who had prominent drug refractory myoclonic epilepsy, which is extremely rare.</p>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"66-70"},"PeriodicalIF":2.7,"publicationDate":"2024-11-29","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
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
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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