Acta Epileptologica最新文献

{"title":"Correction: SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy.","authors":"Wenwei Liu, Kai Gao, Xilong Du, Sijia Wen, Huifang Yan, Jingmin Wang, Yong Wang, Conglei Song, Li Lin, Taoyun Ji, Weiyue Gu, Yuwu Jiang","doi":"10.1186/s42494-025-00240-4","DOIUrl":"10.1186/s42494-025-00240-4","url":null,"abstract":"","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"44"},"PeriodicalIF":1.2,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12427112/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145056090","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term efficacy and predictors of vagus nerve stimulation in drug-resistant epilepsy: a multicenter cohort study.","authors":"Bojing Tan, Yuye Liu, Mingkun Gong, Fangang Meng, Anchao Yang, Kai Zhang, Lin Sang, Jianguo Zhang","doi":"10.1186/s42494-025-00220-8","DOIUrl":"10.1186/s42494-025-00220-8","url":null,"abstract":"<p><strong>Background: </strong>At present, a number of indicators have been analyzed for the relationship with the efficacy of vagus nerve stimulation (VNS) in drug-resistant epilepsy (DRE) patients, but there is still no definite predictor of efficacy. This study is to assess the long-term effectiveness and predictors of VNS in DRE patients.</p><p><strong>Methods: </strong>We analyzed DRE patients monitored for over a year post-surgery (2016-2019) to evaluate VNS outcomes. Logistic regression was used to identify efficacy predictors.</p><p><strong>Results: </strong>Out of 162 DRE patients with VNS, 99 were followed for over 12 months, 80 for over 24 months, and 70 for over 36 months. At 12 months, 33 (33.4%) showed effectiveness, including 7 (7.1%) who were seizure-free. At 24 months, 32 (40.0%) were effective, including 12 (15.0%) who were seizure-free. At 36 months, 36 (51.4%) were effective, including 11 (15.7%) who were seizure-free. After 5 years, 27 (55.1%) were effective, including 8 (16.3%) who were seizure-free. Multivariate regression analysis identified structural etiology as a predictive factor for the effective VNS treatment (P = 0.039, OR = 0.35 [0.13-0.95]).</p><p><strong>Conclusions: </strong>VNS effectively controls seizures, with effectiveness and seizure-free rates improving over time. Patients with structural factors are at higher risk of ineffective VNS, suggesting epilepsy etiology may predict VNS outcomes.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"40"},"PeriodicalIF":1.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12400741/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144972274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A hybrid metaheuristic framework for epileptic seizure detection in healthcare decision support systems.","authors":"Indu Dokare, Sudha Gupta","doi":"10.1186/s42494-025-00238-y","DOIUrl":"10.1186/s42494-025-00238-y","url":null,"abstract":"<p><strong>Background: </strong>The detection of epileptic seizures is a crucial aspect of epilepsy care, requiring precision and reliability for effective diagnosis and treatment. Seizure detection plays a critical role in healthcare informatics, aiding in the timely diagnosis and management of epilepsy. The use of computational intelligence and optimization techniques has shown significant promise in improving the performance of automated seizure detection systems.</p><p><strong>Methods: </strong>This research work proposes a novel hybrid approach that combines Ant Colony Optimization (ACO) for feature selection with Gray Wolf Optimization (GWO) to optimize the hyperparameters of a Random Forest (RF) classifier. In this patient-specific seizure detection, ACO effectively reduces the feature set, improving computational efficiency, while GWO ensures optimal RF performance. The method is evaluated on the Children's Hospital Boston-Massachusetts Institute of Technology (CHB-MIT) and Seina datasets, which include multichannel EEG data from epileptic patients. Performance metrics such as accuracy, sensitivity, and specificity are employed to evaluate the effectiveness of the seizure detection system.</p><p><strong>Results: </strong>The proposed ACO-GWO-RF pipeline demonstrated excellent performance on the CHB-MIT dataset, with a mean accuracy of 96.70%, mean sensitivity of 92.66%, and mean specificity of 99.24%, outperforming existing approaches. The mean values of accuracy, sensitivity, and specificity obtained using the Seina dataset are 93.01%, 89.82%, and 96.26%, respectively. These improvements highlight the robustness of the hybrid metaheuristic method in handling complex EEG data.</p><p><strong>Conclusions: </strong>The hybrid metaheuristic approach effectively optimizes the processing and classification of EEG data for seizure detection. Its strong performance across datasets suggests potential for integration into interactive health applications. Furthermore, its patient-specific adaptability makes it a promising tool for personalized epilepsy diagnosis, treatment, and long-term management.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"42"},"PeriodicalIF":2.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12400604/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144972222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Refining seizure foci localization: the potential of TSPO-PET.","authors":"Yiqiao Wang, Yuncan Chen, Shimin Xu, Xunyi Wu","doi":"10.1186/s42494-025-00234-2","DOIUrl":"10.1186/s42494-025-00234-2","url":null,"abstract":"<p><p>Translocator protein positron emission tomography (TSPO-PET) is a novel imaging modality that leverages the high expression of TSPO in activated microglia and other cells within seizure foci. It has been increasingly applied in the preoperative evaluation of drug-resistant epilepsy (DRE) to aid in the localization of these foci. With advances in tracer development, TSPO-PET has achieved higher signal-to-noise ratios and broader clinical utility. Clinical studies indicate that TSPO-PET yields significantly higher positive detection rates for seizure foci compared to magnetic resonance imaging and fluorodeoxyglucose positron emission tomography. This review summarizes recent progress in TSPO-PET radiotracer technology, its mechanism of action, and its clinical applications for managing DRE.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"41"},"PeriodicalIF":1.2,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12369204/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144972286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identify the origin of de novo variants in TSC patients by ddPCR.","authors":"Kun Ni, Xiaolong Yu, Jiehui Ma, Dan Sun","doi":"10.1186/s42494-025-00227-1","DOIUrl":"10.1186/s42494-025-00227-1","url":null,"abstract":"<p><strong>Background: </strong>Tuberous sclerosis complex (TSC), an inherited neurocutaneous disorder, is caused by variants in the TSC1 or TSC2 genes. The mosaic variants of TSC1 and TSC2 are scarcely detectable using the conventional next-generation sequencing (NGS). Therefore, this study aims to explore the detection and distribution of mosaic variants within affected families.</p><p><strong>Methods: </strong>Through whole-exome sequencing (WES) or the TSC1/TSC2 panel to detect the variants of the TSC1 and TSC2 genes, the reaction system of droplet digital PCR (ddPCR) was designed to detect the mosaicism of these variants in affected families.</p><p><strong>Results: </strong>Genetic testing was carried out on 29 TSC patients via WES or the TSC1/TSC2 panel. The results showed that 27 patients had positive results in the TSC gene variant tests. Fourteen cases were confirmed as de novo variants, and the asymptomatic fathers or mothers of 4 patients were identified as somatic mosaics by ddPCR, with mosaic proportions of 0.8%, 24.18%, 8.02%, and 0.33% respectively.</p><p><strong>Conclusions: </strong>The ddPCR holds the potential to improve diagnostic accuracy, genetic risk assessment, and clinical diagnosis rates. Consequently, it could potentially be adopted as one of the modalities for prompt clinical diagnosis.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"37"},"PeriodicalIF":1.2,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12315287/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144761603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring the efficacy of deep brain stimulation in pediatric neurological disorders: a comprehensive review.","authors":"Tianshuang Wang, Xinhua Wang, Yi Wang, Yuanfeng Zhou","doi":"10.1186/s42494-025-00230-6","DOIUrl":"10.1186/s42494-025-00230-6","url":null,"abstract":"<p><p>Deep brain stimulation (DBS) has emerged as an important therapeutic intervention, effectively addressing a spectrum of drug-resistant neurological and psychiatric disorders. Although its efficacy has been validated in adult populations, the current literature reveals a significant gap concerning its application in pediatric patients. Specifically, pediatric populations afflicted with severe conditions such as dystonia, drug-resistant epilepsy, Tourette syndrome, and some other neuropsychiatric conditions demonstrate an urgent need for alternative therapeutic options. This review systematically examined the existing literature on the application of DBS in pediatric neurological disorders, focusing on the aforementioned conditions. Preliminary findings indicate that while DBS shows potential for a specific subset of pediatric patients, the current data is limited and lacks statistical power. Reported cases exhibit varying degrees of therapeutic success. Although adverse effects associated with DBS in pediatric populations are rare, further investigation is essential to define safety profiles accurately. Future research should focus on conducting large-scale, randomized controlled trials to validate outcomes and determine optimal patient selection criteria, thereby broadening its clinical application within the pediatric population.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"39"},"PeriodicalIF":1.2,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261564/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144643759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From the different pathogenesis of epileptogenesis: vitamins as an adjunctive treatment for epilepsy.","authors":"Weiyi Sun, Yiming Wang, Bo Xiao, Zhaohui Luo","doi":"10.1186/s42494-025-00228-0","DOIUrl":"10.1186/s42494-025-00228-0","url":null,"abstract":"<p><p>Vitamins play an essential role in the maintenance of normal physiological functions of the human body. In recent years, the use of vitamins as an adjunctive treatment for epilepsy has attracted increasing interest academically. There is a substantial body of evidence indicating that vitamin supplementation could contribute to the treatment and prevention of epilepsy. This review  discusses the pathogenesis of epilepsy associated with ten vitamins from five perspectives, namely,  inflammatory signaling pathways, excitotoxicity, oxidative stress, neuroprotection, and the blood-brain barrier, and explores the relationships between the gut microbiota and vitamins in epileptic disorders with a focus on summarizing the antiepileptic effects of vitamin D and vitamin E. In addition, we discuss the effects of antiseizure medications on vitamins. This review aims to provide a more comprehensive view of the use of vitamins as an adjunctive therapy in epilepsy.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"38"},"PeriodicalIF":1.2,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12239266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144592478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictive value of peripheral blood inflammatory markers for epilepsy occurrence in traumatic brain injury patients.","authors":"Sheng-Xue Wang, Qiang Zi, Yu-Xuan Li, Wang Guo, Yu-Hao Chu, Xue-Ping Yang, Yun Li","doi":"10.1186/s42494-025-00226-2","DOIUrl":"10.1186/s42494-025-00226-2","url":null,"abstract":"<p><strong>Background: </strong>Post-traumatic epilepsy (PTE) is characterised by recurrent epileptic seizures following traumatic brain injury (TBI). PTE has a high incidence and leads to significant disability rates, posing a substantial socioeconomic burden. This study aimed to evaluate the predictive value of peripheral blood inflammatory markers-including neutrophils, lymphocytes, platelets, the neutrophil-to-lymphocyte ratio (NLR), and the platelet-to-lymphocyte ratio (PLR)-for seizure risk in patients with TBI.</p><p><strong>Methods: </strong>This investigation involved the enrollment of patients admitted to the Department of Neurology/Surgery at the First Affiliated Hospital of Dali University in Yunnan Province, China, spanning the period from January 2020 to May 2023. Our cohort comprised 138 individuals with PTE, 150 with TBI, 142 with epilepsy of unknown origin, and 130 healthy controls (HC). We retrospectively analysed demographic characteristics and peripheral blood cell inflammation markers for all participants.</p><p><strong>Results: </strong>1. In the PTE group, both neutrophil count and NLR exhibited higher levels compared to the TBI group, the epilepsy of unknown origin group, and the HC group. Conversely, the lymphocyte count, platelet count, and PLR in the group were lower in contrast to the TBI group, the epilepsy of unknown origin group, and the HC group. 2. Neutrophil count, lymphocyte count, platelet count, NLR, and PLR were significantly different between the PTE and TBI, PTE and HC groups (P < 0.05). Marked distinctions were detected in neutrophil count, platelet count, NLR, and PLR between the PTE group and the epilepsy of unknown origin group (P < 0.05). 3. Furthermore, our multivariate linear regression analysis unveiled that the TBI site (temporal lobe) (P < 0.05), the severity of TBI (mild, moderate, severe) (P < 0.05), and surgical intervention (P < 0.05) are the risk factors affecting the peripheral blood inflammation indicators. 4. Finally, the ROC analysis produced an AUC of 0.908 for neutrophil levels (cut-off: 4.05, sensitivity: 0.783, specificity: 0.992) and an AUC of 0.960 for NLR (cut-off: 2.945, sensitivity: 0.797, specificity: 0.992).</p><p><strong>Conclusions: </strong>Both neutrophil count and the NLR were significantly increased in the PTE group, suggesting that these parameters may serve as predictors of epilepsy development in TBI patients.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"36"},"PeriodicalIF":1.2,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12199492/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144508719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Minocycline in chronic management of febrile infection-related epilepsy syndrome (FIRES): a case series and literature review of treatment strategies.","authors":"Lanlan Feng, Hui Li, Lei Ma, Mengmeng Hu, Bo Hui, Zhongqing Sun, Xiaomu Wang, Yuanyuan Wang, Wen Jiang","doi":"10.1186/s42494-025-00224-4","DOIUrl":"10.1186/s42494-025-00224-4","url":null,"abstract":"<p><p>The effectiveness of treatment for the chronic phase of febrile infection-related epilepsy syndrome (FIRES) remains uncertain. This study aimed to evaluate the therapeutic efficacy of minocycline in patients with chronic FIRES who had a poor response to conventional antiseizure medications. Three patients received 100 mg of minocycline (100 mg twice daily for 12 weeks), with effectiveness assessed based on seizure frequency, duration, type, and quality of life (using the quality of life in epilepsy-31, QOLIE-31), alongside adverse event monitoring. Results showed that one patient (Patient 3) exhibited a significant reduction in seizure duration and improved QOLIE-31 scores, with focal seizures being the only type observed after treatment. However, there was no statistically significant change in overall seizure frequency among the three patients. Additionally, a short literature review was conducted to explore various management strategies for chronic FIRES, including IL-1 receptor antagonist (anakinra) and IL-6 receptor antagonist (tocilizumab), centro-median thalamic nuclei deep brain stimulation, cannabidiol, responsive neurostimulation, intrathecal dexamethasone, ketogenic diet, and vagus nerve stimulation. In conclusion, considering the existing research on the etiological mechanisms of FIRES and based on our preliminary findings on the anti-inflammatory and antiepileptic properties of minocycline, early initiation of minocycline therapy in the chronic phase of FIRES should be explored further.Trial registrationClinicaltrials.gov (NCT05958069, retrospectively registered 22 July 2023).</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"35"},"PeriodicalIF":1.2,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12142932/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144249976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Type I Sialidosis in a Chinese family: a case report and literature review.","authors":"Xia Zhou, Shengyou Su, Shenghua Li, ZuFang Yi, Liling Feng, Junyi Chen, Binglin Fan","doi":"10.1186/s42494-025-00225-3","DOIUrl":"10.1186/s42494-025-00225-3","url":null,"abstract":"<p><strong>Background: </strong>Sialidosis is an autosomal recessive hereditary disease characterized by the mutation of neuraminidase-1 (NEU1) gene, resulting in decreased activity of α-N-acetylneuraminidase. This leads to metabolic abnormalities in various organs. Sialidosis is classified into two distinct clinical phenotypes, type I and type II, based on the age of onset and severity of clinical manifestations.</p><p><strong>Case presentation: </strong>Here, we report a case involving a patient and his two sisters, all of whom showed seizures and ataxia during adolescence, with progressively worsening symptoms. Prior to admission, none of the patients had received a systemic diagnosis or treatment. The whole exome sequencing identified a homozygous NEU1 mutation (NM_000434.3:c.544A > G [p.Ser182Gly]) in all three siblings. Their parents and children, who were asymptomatic, were found to be heterozygous carriers. The three patients were ultimately diagnosed with type I sialidosis and treated with antiseizure medications, but they continued to experience recurrent seizures.</p><p><strong>Conclusions: </strong>This case report enhances our understanding of sialidosis, particularly in patients presenting with seizures and ataxia. Furthermore, the gene sequencing is a crucial tool for confirming the diagnosis of sialidosis and provides a valuable approach for genetic counseling in affected families.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"34"},"PeriodicalIF":1.2,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12135267/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144226959","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}