Epilepsy Research最新文献

{"title":"Plasma proteomics in epilepsy: Network-based identification of proteins associated with seizures","authors":"Saman Hosseini Ashtiani ,&nbsp;Sarah Akel ,&nbsp;Evelin Berger ,&nbsp;Johan Zelano","doi":"10.1016/j.eplepsyres.2024.107480","DOIUrl":"10.1016/j.eplepsyres.2024.107480","url":null,"abstract":"<div><h3>Purpose</h3><div>Identification of potential biomarkers of seizures.</div></div><div><h3>Methods</h3><div>In this exploratory study, we quantified plasma protein intensities in 15 patients with recent seizures compared to 15 patients with long-standing seizure freedom. Using TMT-based proteomics we found fifty-one differentially expressed proteins.</div></div><div><h3>Results</h3><div>Network analyses including co-expression networks and protein-protein interaction networks, using the STRING database, followed by network centrality and modularity analyses revealed 22 protein modules, with one module showing a significant association with seizures. The protein-protein interaction network centered around this module identified a subnetwork of 125 proteins, grouped into four clusters. Notably, one cluster (mainly enriching inflammatory pathways and Gene Ontology terms) demonstrated the highest enrichment of known epilepsy-related genes.</div></div><div><h3>Conclusion</h3><div>Overall, our network-based approach identified a protein module linked with seizures. The module contained known markers of epilepsy and inflammation. The results also demonstrate the potential of network analysis in discovering new biomarkers for improved epilepsy management.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"209 ","pages":"Article 107480"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142767166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epilepsy core outcome set for effectiveness trials (EPSET): A systematic review of outcomes measured in registered phase III and IV clinical trials for adults with epilepsy","authors":"James W. Mitchell ,&nbsp;Rachel Batchelor ,&nbsp;Guleed Adan ,&nbsp;Adam Noble ,&nbsp;Paula R. Williamson ,&nbsp;Tony Marson","doi":"10.1016/j.eplepsyres.2024.107481","DOIUrl":"10.1016/j.eplepsyres.2024.107481","url":null,"abstract":"<div><div>At present, little is known about the outcomes measured in studies assessing the effectiveness of treatments for adults with epilepsy. As part of a wider project developing a Core Outcome Set for clinical trials for adults with epilepsy, we summarised the current outcomes and measurement instruments used in completed phase III and IV clinical trials registered in the clinicaltrials.gov and International Standard Randomised Controlled Trial Number (ISRCTN) databases. Of the reviewed studies 104 were deemed eligible. The outcomes that were measured were recorded, and trial registry entries cross referenced against associated peer review publications. In total, 374 unique granular outcome terms were identified, which grouped into 45 outcome concepts across the following domains: seizures, cognitive/behavioural/psychiatric, sleep, general symptom, functional status / disability, emotional functioning, social functioning, delivery of care, life impact, trial processes, side effects / adverse events, pregnancy / offspring, and death. We identified evidence of outcome measurement heterogeneity, with just 10/45 outcome concepts measured in more than half of the identified studies. This association remained when assessing studies grouped by epilepsy chronicity (newly diagnosed vs. chronic/treatment refractory) and epilepsy classification (focal vs. other). These findings highlight the need for a Core Outcome Set for interventional studies for adults with epilepsy to improve consistency of outcome measurement and reporting.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"209 ","pages":"Article 107481"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142767163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effectiveness and tolerability of cenobamate: A single center experience","authors":"Christopher Saouda,&nbsp;Omar Nofal,&nbsp;Yamane Makke,&nbsp;Alexandra Eid,&nbsp;Victoria Vinarsky,&nbsp;Helen Edelberg,&nbsp;Sean M. Lee,&nbsp;Mohamad Koubeissi","doi":"10.1016/j.eplepsyres.2024.107498","DOIUrl":"10.1016/j.eplepsyres.2024.107498","url":null,"abstract":"<div><h3>Introduction</h3><div>Medication-resistant epilepsy (MRE) is characterized by the failure of adequate trials of two antiseizure medications (ASMs). Numerous studies have shown that once two ASMs fail to control seizures, the likelihood of subsequent ASM regimens providing seizure control diminishes significantly. Recent clinical data on cenobamate (CNB) suggest it may offer higher rates of seizure freedom in MRE patients. This study aims to report real-world, single-center findings on the effectiveness and tolerability of CNB in treating MRE.</div></div><div><h3>Methods</h3><div>This retrospective study includes adult patients diagnosed with MRE and treated with CNB between 2020 and 2023 at The George Washington University (GWU). Data were collected from electronic medical records. Statistical analyses were conducted to evaluate CNB's impact on seizure control and patient outcomes.</div></div><div><h3>Results</h3><div>121 patients with medication-resistant epilepsy (MRE) were prescribed cenobamate (CNB). After exclusions, 104 patients were included in the effectiveness analysis and 111 in the tolerability analysis. Results showed that 34.6 % of patients achieved seizure freedom for at least three months, with a mean duration of seizure freedom of 11 ( ± 7.9) months.</div></div><div><h3>Significance</h3><div>CNB use in a large population of more than 100 patients demonstrated impressive anti-seizure activity with a good proportion of patients with MRE achieving seizure freedom despite having failed multiple prior ASMs.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"209 ","pages":"Article 107498"},"PeriodicalIF":2.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142871695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Surgical outcome and contributing presurgical evaluations in children with magnetic resonance imaging-negative epilepsy and periodic seizure cycles","authors":"Yoshihiko Saito ,&nbsp;Kenji Sugai ,&nbsp;Masaki Iwasaki ,&nbsp;Noriko Sato ,&nbsp;Akiyoshi Kakita ,&nbsp;Yuko Saito ,&nbsp;Taisuke Ohtsuki ,&nbsp;Masayuki Sasaki","doi":"10.1016/j.eplepsyres.2024.107492","DOIUrl":"10.1016/j.eplepsyres.2024.107492","url":null,"abstract":"<div><h3>Background</h3><div>The identification of surgical candidates is a critical issue in patients with magnetic resonance imaging (MRI)-negative drug-resistant focal epilepsy and latent accompanying resectable lesions, such as focal cortical dysplasia (FCD). Recently, periodic seizure cycles have been associated with FCD in both patients with MRI-positive and MRI-negative epilepsy. We investigated the presurgical evaluation and postsurgical outcome of patients with MRI-negative epilepsy with FCD and a history of periodic seizure cycles.</div></div><div><h3>Methods</h3><div>We retrospectively reviewed the characteristics of presurgical evaluation and postsurgical seizure outcome in 14 children with MRI-negative drug-resistant focal epilepsy and a history of periodic seizure cycles. All the patients had FCD histopathologically.</div></div><div><h3>Results</h3><div>The mean age at epilepsy surgery was 7.7 ± 4.7 years (0.7–16.1 years). Favorable postsurgical seizure outcome (ILAE classes 1–3) was obtained in 10 (71 %) patients five years after surgery. The relative risk of the complete concordance between imaging findings and resected area for five-year seizure freedom was 2.25 in positron emission tomography (PET) and 2.22 in subtraction ictal single-photon emission computed tomography co-registered to MRI (SISCOM), and 1.86 in magnetoencephalography (MEG).</div></div><div><h3>Conclusion</h3><div>All the children with MRI-negative focal epilepsy and a history of periodic seizure cycles were turned out to have FCD pathologically, and are good surgical candidates. Favorable seizure outcome can be expected in such patients when resective epilepsy surgery is planned based on presurgical evaluation with PET or SISCOM.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"209 ","pages":"Article 107492"},"PeriodicalIF":2.0,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142757686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cannabis use, sleep and mood disturbances among persons with epilepsy – A clinical and polysomnography study from a Canadian tertiary care epilepsy center","authors":"Garima Shukla ,&nbsp;Rishabh Sablok ,&nbsp;Zaitoon Shivji ,&nbsp;Stuart Fogel ,&nbsp;Gavin P. Winston ,&nbsp;Lysa Boissé Lomax ,&nbsp;Ana Johnson ,&nbsp;Helen Driver","doi":"10.1016/j.eplepsyres.2024.107479","DOIUrl":"10.1016/j.eplepsyres.2024.107479","url":null,"abstract":"<div><h3>Objective</h3><div>Interest in anti-seizure properties of cannabinoids is increasing, with the rise in prevalence of recreational and medical cannabis use, especially across Canada. In a recent study on people with epilepsy (PWE), cannabis use showed a strong association with poor psychosocial health. Sleep and mood comorbidities are highly prevalent in epilepsy, and are common motivations for cannabis use. The primary objective of this study was to assess demographic, subjective and objectively assessed sleep quality and mood related differences among PWE who regularly use cannabis compared to those who do not.</div></div><div><h3>Methods</h3><div>Consecutive consenting patients with a confirmed epilepsy diagnosis, admitted to our Epilepsy Monitoring Unit, over a 3-year period (2019–2022) were enrolled. Detailed epilepsy-related data and self-reported sleep [Pittsburgh Sleep quality index (PSQI)], Epworth Sleepiness Scale (ESS)], mood [(Beck’s Depression Inventory (BDI) and Beck’s Anxiety inventory (BAI)] and cannabis use related data were collected. Overnight polysomnography (PSG) was conducted on the first night of admission, with simultaneous 18-channel video-EEG. Sleep (PSG) scoring followed American Academy of Sleep Medicine guidelines by a scorer blinded to clinical details.</div></div><div><h3>Results</h3><div>Among 51 patients with similar seizure control, 25 (13 F) reported cannabis use (mean age 36.3<u>+</u>14.8 years) and were significantly younger than 26 (18 F) non-users (mean age 48.3<u>+</u>15 years). Cannabis users had significantly better subjective sleep quality (mean PSQI scores 7.2<u>+</u>2.9 vs 10.2<u>+</u>5.2 respectively). Most patients endorsed sleepiness (Cannabis users with ESS scores greater than 10; 91.3 %, 77.3 % in non-users) and moderate to extreme depression (BDI) scores. No significant differences were observed in objective sleep parameters. BDI score significantly predicted PSQI and ESS scores on multiple logistic regression analysis.</div></div><div><h3><strong>Significance</strong></h3><div>Despite a significant age difference, self-reported sleep quality is better among PWE who report regular cannabis use compared to non-users. However, there is no significant difference in objective sleep quantity and quality from PSG between the two groups. Additionally, severity of depressive symptoms is a significant predictor of sleep quality and of excessive daytime sleepiness among PWE.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"209 ","pages":"Article 107479"},"PeriodicalIF":2.0,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142700715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating the late seizures of acute encephalopathy with biphasic seizures and late reduced diffusion via monitoring using continuous electroencephalogram","authors":"Naohiro Yamamoto ,&nbsp;Ichiro Kuki ,&nbsp;Naoki Yamada ,&nbsp;Shizuka Nagase-Oikawa ,&nbsp;Masataka Fukuoka ,&nbsp;Kim Kiyohiro ,&nbsp;Takeshi Inoue ,&nbsp;Megumi Nukui ,&nbsp;Junichi Ishikawa ,&nbsp;Kiyoko Amo ,&nbsp;Masao Togawa ,&nbsp;Yasunori Otsuka ,&nbsp;Shin Okazaki","doi":"10.1016/j.eplepsyres.2024.107483","DOIUrl":"10.1016/j.eplepsyres.2024.107483","url":null,"abstract":"<div><h3>Background</h3><div>Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) causes clustered seizures (late seizures; LS) 3–7 days after early seizure (ES); however, few reports provide continuous electroencephalogram (C-EEG) monitoring details. This study aimed to evaluate the initial/last detection date of LS using C-EEG and determine whether LS EEG features correlate with neurological sequelae.</div></div><div><h3>Materials and methods</h3><div>We analyzed 28 patients diagnosed with AESD who underwent C-EEG monitoring between 2015 and 2020. Multiple pediatric neurologists and epileptologists evaluated the LS detection timing, duration, and severity. Based on the evaluated data, we compared the clinical characteristics and LS-induced neurological sequelae between the ESEEG+LS (initiated C-EEG immediately after ES) and LSEEG+LS (initiated C-EEG after LS confirmation) groups. Additionally, we compared LS clinical characteristics and severity between severe and non-severe groups for 15 patients (baseline Pediatric Cerebral Performance Category Scale score &lt;3).</div></div><div><h3>Results</h3><div>LS was detected in 17 of 28 patients. The earliest and latest LS detection dates were 2 and 11 days, respectively, and the longest LS duration was 7 days (median, 0.6 days). Regarding neurological sequelae, the LS duration was markedly longer in the severe group than that in the non-severe group during the distant period. However, LS severity was not associated with neurological sequelae.</div></div><div><h3>Conclusion</h3><div>This study highlights the importance of C-EEG as it could aid in the early detection of LS. Neurological sequelae correlated with LS duration but not severity.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"209 ","pages":"Article 107483"},"PeriodicalIF":2.0,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Validation of hemispherectomy outcome prediction scale in treatment of medically intractable epilepsy","authors":"Ashley M. Howell,&nbsp;Shelly Wang,&nbsp;John Ragheb,&nbsp;Julia Decker,&nbsp;Erik C. Brown","doi":"10.1016/j.eplepsyres.2024.107477","DOIUrl":"10.1016/j.eplepsyres.2024.107477","url":null,"abstract":"<div><div>The Hemispherectomy Outcome Prediction Scale (HOPS) was developed to aid both clinicians and patients in determining the chance of success after hemispheric surgery for medically refractory epilepsy. The original study generating HOPS had a multi-institutional, large cohort format yielding near perfect patient stratification. Evidence suggests that methodologies utilized to create such predictive models, including cross-validation as well as stratification utilizing the same data employed for model generation, may be at risk of an undesirable modeling phenomenon known as overfitting. We posed the question of whether overfitting may be influencing HOPS results and aimed for preliminary evidence of external validation with parameters from patients at our institution not included in the original HOPS study. We found HOPS to stratify our limited post-operative cohort adequately. However, the likelihood of complete seizure freedom among the patients predicted by HOPS to be at greatest chance of success was ∼75 %, about 20 points lower than in the original HOPS cohort. This reduction in absolute chance of success predicted by HOPS may represent some degree of overfitting. It will be informative to aim for external validation of HOPS utilizing patient cohorts entirely separate from those used for model generation. External validation of HOPS and similar models could optimize realistic prediction of success after intervention.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"208 ","pages":"Article 107477"},"PeriodicalIF":2.0,"publicationDate":"2024-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MicroRNAs as potential biomarkers of response to modified Atkins diet in treatment of adults with drug-resistant epilepsy: A proof-of-concept study","authors":"Raquel Samões ,&nbsp;Ana Cavalheiro ,&nbsp;Cristina Santos ,&nbsp;Joana Lopes ,&nbsp;Catarina Teixeira ,&nbsp;Maria Manuel Tavares ,&nbsp;Cláudia Carvalho ,&nbsp;Carolina Lemos ,&nbsp;Paulo Pinho e Costa ,&nbsp;Sara Cavaco ,&nbsp;João Chaves ,&nbsp;Bárbara Leal","doi":"10.1016/j.eplepsyres.2024.107478","DOIUrl":"10.1016/j.eplepsyres.2024.107478","url":null,"abstract":"<div><h3>Background</h3><div>Accurate predictors of response to modified Atkins diet (MAD) are needed. MicroRNAs are potential biomarkers in epilepsy. This study aimed to explore the value of circulating miR-146a, miR-155, miR-22, miR-21 and miR-134 levels in predicting response to MAD.</div></div><div><h3>Methods</h3><div>Patients who completed 3 months of MAD were selected from a prospective cohort of adults with DRE followed in a specialized MAD outpatient clinic. Patients were classified as responders if any reduction in seizure frequency at follow-up, calculated through seizure-calendars). The &gt;50 % seizure reduction cut-off was also explored. Qualitative benefits in seizures and cognition were analysed. Blood samples were collected prior to initiate MAD and microRNAs were quantified by qRT-PCR.</div></div><div><h3>Results</h3><div>Thirty-nine patients were included (56 %males, mean age=33.1±8.5yo, 62 %focal epilepsies, 59 %structural aetiology): 20(51 %) were responders [mean reduction in seizure frequency=54 %(17–100 %); 10 had ≥50 % reduction]; 25(64 %) reported qualitative benefit in seizures and 21(54 %) reported cognitive benefits. At pre-treatment baseline, a panel combining serum levels of all studied microRNAs predicted seizure reduction (AUC=0.839, p&lt;0.0001), qualitative benefit in seizures (AUC=0.683, p=0.048) and in cognition (AUC=0.751, p&lt;0.01) at 3months. miR-146a was the only significant microRNA when evaluated in isolation. There was no statistical correlation in the biomarkers when a ≥50 % seizure reduction was compared to &lt;50 %.</div></div><div><h3>Conclusions</h3><div>A panel combining pre-treatment serum levels of miR-146a, miR-155, miR-134, miR-21 and miR-22 predicted any reduction in seizures with MAD in adults with DRE at 3months. This panel may be a promising biomarker and a useful tool in the selection of patients.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"208 ","pages":"Article 107478"},"PeriodicalIF":2.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Necessary for seizure forecasting outcome metrics: Seizure frequency and benchmark model","authors":"Chi-Yuan Chang ,&nbsp;Boyu Zhang ,&nbsp;Robert Moss ,&nbsp;Rosalind Picard ,&nbsp;M. Brandon Westover ,&nbsp;Daniel Goldenholz","doi":"10.1016/j.eplepsyres.2024.107474","DOIUrl":"10.1016/j.eplepsyres.2024.107474","url":null,"abstract":"<div><h3>Background</h3><div>This study aims to illustrate the connection between seizure frequency (SF) and performance metrics in seizure forecasting, and to compare the effectiveness of a moving average (MA) model versus the commonly used permutation benchmark.</div></div><div><h3>Methods</h3><div>Metrics of calibration and discrimination were computed for each dataset, comparing MA and permutation performance across SF values. Three datasets were used: (1) self-reported seizure diaries from 3994 Seizure Tracker patients, (2) automatically detected and sometimes manually reported or edited generalized tonic-clonic seizures from 2350 Empatica Embrace 2 and Mate App users, and (3) simulated datasets with varying SFs.</div></div><div><h3>Results</h3><div>Most metrics were found to depend on SF. The MA model outperformed or matched the permutation model in all cases. These more advanced metrics show that comparison to permutation will falsely elevate poor forecasting models.</div></div><div><h3>Conclusions</h3><div>The findings highlight SF's role in seizure forecasting accuracy and the MA model's suitability as a benchmark. This study underscores the need for considering patient SF in forecasting studies and suggests the MA model may provide a better standard for evaluating future seizure forecasting models.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"208 ","pages":"Article 107474"},"PeriodicalIF":2.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence, clinical characteristics and outcomes of seizures in neurofibromatosis type 1: A systematic review and single arm meta-analysis","authors":"Fan Wu ,&nbsp;Xinna Ji ,&nbsp;Mengxiao Shen ,&nbsp;Peidi Cheng ,&nbsp;Yanyan Gao ,&nbsp;Wanting Liu ,&nbsp;Jinxiao Chen ,&nbsp;Shuo Feng ,&nbsp;Huanhuan Wu ,&nbsp;Fei Di ,&nbsp;Yunlin Li ,&nbsp;Jianhua Wang ,&nbsp;Xue Zhang ,&nbsp;Qian Chen","doi":"10.1016/j.eplepsyres.2024.107476","DOIUrl":"10.1016/j.eplepsyres.2024.107476","url":null,"abstract":"<div><h3>Background</h3><div>Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome that predisposes patients to seizures. We aimed to estimate the prevalence, clinical characteristics and outcomes of seizures in NF1 patients, and analyze prognostic factors of seizures.</div></div><div><h3>Methods</h3><div>Systematic searches were conducted in the PubMed, EMBASE, Web of Science, Scopus, Cochrane Library, and grey literature databases from inception to April 2024. We identified observational studies that included NF1 patients with seizures. Clinical characteristics of seizures were summarized and meta-analyses of prevalence and outcomes were conducted. We assessed publication bias using funnel plots and conducted sensitivity analysis to assess stability and reliability. Individual patient data were analyzed to evaluate prognostic factors.</div></div><div><h3>Results</h3><div>Fourteen studies were identified from 1021 records. A total of 337 patients with seizures from 4946 NF1 patients were included. Meta-analysis indicated the overall prevalence of seizures in NF1 patients was 8.1 % (95 % CI= 5.9–10.3 %). The first seizure usually occurs in childhood, with a median age range of 3.5–12.0 years. Focal seizures (54.2 %) and generalized tonic-clonic seizures (16.8 %) were the most common types. The seizure freedom rate was 68.5 % (95 % CI= 57.5–79.5 %), mostly with one or two antiseizure medications. Cortical malformation/hippocampus sclerosis emerged as an independent risk factor for persistent seizures (OR=5.19, 95 %CI=1.27–21.18, P=0.02).</div></div><div><h3>Conclusion</h3><div>Though NF1 patients face a higher risk of seizures than the general population, the majority achieve seizure freedom. Patients with cortical malformation or hippocampus sclerosis were at a higher risk of persistent seizures.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"208 ","pages":"Article 107476"},"PeriodicalIF":2.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}