Epilepsia Open最新文献

{"title":"Analysis of epilepsy-associated variants in HCN3 – Functional implications and clinical observations","authors":"Peiwei Zhao,&nbsp;Hongbo Xiong,&nbsp;Gunagtao Kuang,&nbsp;Chen Sun,&nbsp;Xiankai Zhang,&nbsp;Yufeng Huang,&nbsp;Sukun Luo,&nbsp;Lei Zhang,&nbsp;Jun Jiang,&nbsp;Xuelian He","doi":"10.1002/epi4.13049","DOIUrl":"10.1002/epi4.13049","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This case study investigates the role of hyperpolarization-activated, cyclic nucleotide-gated (HCN) ion channels, which are integral membrane proteins crucial for regulating neuronal excitability. HCN channels are composed of four subunits (HCN1-4), with <i>HCN1</i>, <i>HCN2</i>, and <i>HCN4</i> previously linked to epilepsy. However, the role of the <i>HCN3</i> in epileptogenesis remains underexplored.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We recruited a cohort of 298 epilepsy patients to screen for genetic variants in the <i>HCN3</i> (NM_020897.3) using Sanger sequencing. We identified rare variants and conducted functional assays to evaluate their pathogenicity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We identified three rare heterozygous variants in <i>HCN3</i>: c.1370G &gt; A (R457H), c.1982G &gt; A (R661Q), and c.1982G &gt; A(P630L). In vitro functional analyses demonstrated that these variants affected the expression level of <i>HCN3</i> protein without altering its membrane localization. Whole-cell voltage-clamp experiments showed that two variants (R457H and R661Q) significantly reduced current density in cells, while P630L has no effect on ion channel current.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>Our findings suggest that the identified <i>HCN3</i> genetic variants disrupt HCN ion channel function, highlighting <i>HCN3</i> as a novel candidate gene involved in epileptic disorders. This expands the genetic landscape of epilepsy and provides new insights into its molecular underpinnings.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>Epilepsy is a brain disease that can be caused by mutations in specific genes. We found three rare variants in HCN3 gene in 298 patients with epilepsy, and two of the three mutations could be pathogenic and cause epilepsy and another one is single-nucleotide polymorphism, which could have no effect and no contribution to the development of epilepsy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2294-2305"},"PeriodicalIF":2.8,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633725/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142371369","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}

{"title":"Treatment with brivaracetam has no apparent long-term effects on body weight in pediatric patients with epilepsy","authors":"Florin I. Floricel,&nbsp;Paula E. Reichel,&nbsp;Najla Dickson,&nbsp;Sofia Fleyshman,&nbsp;Christoph Reichel,&nbsp;Jan-Peer Elshoff","doi":"10.1002/epi4.13045","DOIUrl":"10.1002/epi4.13045","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The objective of this study is to evaluate possible long-term effects of treatment with brivaracetam (BRV) on body weight in children with epilepsy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Post hoc analysis of data from patients (aged 1 month to &lt;17 years) with ≥6 months of BRV treatment in a long-term, open-label trial (N01266 [NCT01364597]). Outcomes included body weight and body mass index (BMI) over time (<i>z</i>-score growth curves), and treatment-emergent adverse events (TEAEs). Previous/ongoing medical conditions that may affect body weight (gastrointestinal and metabolic/nutritional disorders); concomitant antiseizure medications (ASMs) were also evaluated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Two hundred nine patients (mean [standard deviation] age 7.9 [4.6] years) were analyzed. Most (154 [73.7%]) had focal-onset seizures. At study initiation, median (range) BRV dose was 1.0 (0.4–7.5) mg/kg/day. Overall, 189 (90.4%) patients had a previous or ongoing medical condition (gastrointestinal disorders: 43 [20.6%]; metabolism/nutritional disorders: 26 [12.4%]). Most patients followed <i>z</i>-score curves for body weight and BMI during BRV treatment, although there were outliers in both directions. Incidences of appetite/weight-change TEAEs were low. Twenty-three (11.0%) patients had a TEAE of decreased appetite and 14 (6.7%) had a TEAE of weight decreased.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>Long-term adjunctive BRV was well tolerated in growing children with no indication of detrimental effects on body weight.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>Brivaracetam is an antiseizure medication (ASM) used to treat seizures in people with epilepsy. Some ASMs can lead to changes in people's appetite and weight. Knowing the effect a drug has on appetite and weight is particularly important in children. We looked at 209 children with epilepsy taking brivaracetam and studied changes in their body weight and body mass index over time. The number of reported side effects related to appetite or weight change was low. There was no apparent long-term effect on their body weight, even when taking their medical history and use of other ASMs into account.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2230-2240"},"PeriodicalIF":2.8,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633704/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142361332","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}

{"title":"Embracing a new chapter at Epilepsia Open: A message from the incoming Editor-in-Chief","authors":"Merab Kokia","doi":"10.1002/epi4.13048","DOIUrl":"10.1002/epi4.13048","url":null,"abstract":"&lt;p&gt;As the incoming Editor-in-Chief of &lt;i&gt;Epilepsia Open&lt;/i&gt;, I am honored to step into this role at a time of significant growth and innovation in epilepsy research. I am excited to lead this distinguished journal, building upon the solid foundation established by my esteemed predecessors. The opportunity to guide &lt;i&gt;Epilepsia Open&lt;/i&gt; forward in its mission to disseminate high-quality research is both a privilege and a responsibility that I embrace wholeheartedly.&lt;/p&gt;&lt;p&gt;&lt;i&gt;Epilepsia Open&lt;/i&gt; was launched in 2016 as the official open-access journal of the International League Against Epilepsy (ILAE). Over the years, it has rapidly established itself as a reputable platform for rigorous basic, translational, and clinical research in epilepsy. The journal's commitment to transparency and inclusivity in publishing has allowed it to stand out, accepting not only groundbreaking studies but also high-quality research that reports negative, confirmatory, or preliminary findings - studies that are essential for the robust development of our field.&lt;/p&gt;&lt;p&gt;As I assume the role of Editor-in-Chief, I would like to express my deepest gratitude to the outgoing Editor-in-Chief, Professor Aristea Galanopoulou, and Deputy Editor, Professor Dong Zhou. Their leadership has been instrumental in shaping the journal's current trajectory. Under their leadership, &lt;i&gt;Epilepsia Open&lt;/i&gt; has seen a steady increase in submissions, readership, and citations, reflecting the journal's growing influence in the epilepsy research community.&lt;/p&gt;&lt;p&gt;Moreover, I am eager to embrace the opportunities presented by emerging technologies and interdisciplinary research. The field of epilepsy research is evolving rapidly, with new methodologies and big data approaches offering unprecedented insights. I also aim to collaborate with data science and machine learning experts to analyze citation trends and suggest strategies to increase the journal's impact. These advanced analytical tools will not only help us understand the shifting landscape of research influence but also guide us in curating content that resonates with the needs of the epilepsy community.&lt;/p&gt;&lt;p&gt;&lt;i&gt;Epilepsia Open&lt;/i&gt; is uniquely positioned to serve as a forum for these advancements, and I encourage submissions that push the boundaries of current knowledge and practice. By fostering collaboration across disciplines and leveraging the power of artificial intelligence, we can drive the field of epilepsy research forward, ensuring that our journal remains at the cutting edge of scientific discovery.&lt;/p&gt;&lt;p&gt;In this rapidly evolving landscape of medical research, where technology and innovation are reshaping how we approach epilepsy care, &lt;i&gt;Epilepsia Open&lt;/i&gt; will continue to be at the forefront. We will actively seek out research that not only advances our understanding of epilepsy but also translates into better clinical outcomes for patients around the world. Our goal is to ensure that every article we publish contributes meani","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 5","pages":"1630-1631"},"PeriodicalIF":2.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11450645/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364883","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}

{"title":"Seizure prophylaxis in pneumococcal meningitis, cohort study","authors":"Lluïsa Guillem,&nbsp;Guillermo Hernández-Pérez,&nbsp;Damaris Berbel,&nbsp;Ivan Pelegrín,&nbsp;Mercè Falip,&nbsp;Carmen Cabellos","doi":"10.1002/epi4.13054","DOIUrl":"10.1002/epi4.13054","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Our aim was to assess seizure development as a complication of pneumococcal meningitis and its possible prevention with antiseizure medication prophylaxis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Antiseizure medication (ASM) prophylaxis has been practiced for a long time at our center. We assessed all cases of community-acquired pneumococcal meningitis admitted from January 2010 to April 2021 recorded in our prospective database and conducted further retrospective studies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of the 86 cases recorded, 21 (24.4%) developed acute symptomatic seizures, more than half of which (11/21; 52.4%) before admission. Seizure development increased the need for orotracheal intubation and intensive care unit admission, while also lengthening hospital stays and suggesting more risk of death and disability at discharge [adjusted odds ratio (aOR), 3.13; 95% confidence interval (CI): 1–9.8]. Of the 74 patients eligible for ASM prophylaxis, 64 received it and 10 did not. ASM prophylaxis seemed effective in preventing seizure development, as only six seizure events were recorded in 64 patients with ASM prophylaxis (9.4%) compared with four in the 10 patients without prophylaxis (40%). Its preventive capacity was especially notable when administered within 4 h of admission. Differences in mortality did not reach statistical significance. Adverse effects were rare.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>Seizure development is a common complication in pneumococcal meningitis and is associated with increased risks of Intensive Care Unit admission, orotracheal intubation, and longer hospital stays. ASM prophylaxis may be effective in blocking seizure development in patients with preventable seizures and may be associated with better prognosis. Further studies are now warranted.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>Infection of the meninges (the covering of the brain) due to the common bacteria <i>S pneumoniae</i>, used to be a fatal disease before the introduction of antibiotics and corticoids. Thanks to these drugs, more people survive this disease but, due to the frequent complications, they may have several sequelae. Seizures are a common complication. Our study suggests that they might be prevented by using antiseizure drugs which may reduce both severity and hospital stay.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2319-2330"},"PeriodicalIF":2.8,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633693/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142344237","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}

{"title":"Systemic lupus erythematosus and epilepsy: A Mendelian randomization study","authors":"Yang Hu,&nbsp;Duo Lin,&nbsp;Dongmei Wu,&nbsp;Yuqing Zhang,&nbsp;Gongbo Li","doi":"10.1002/epi4.13058","DOIUrl":"10.1002/epi4.13058","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Numerous observational studies have found a relationship between systemic lupus erythematosus (SLE) and epilepsy; however, their causal relationship remains unclear. This study aimed to investigate the causal role of SLE in epilepsy or any of its subtypes using a two-sample Mendelian randomization (MR) analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Single nucleotide polymorphisms (SNPs) linked to SLE were utilized as instrumental variables in MR analysis to assess their causal impact on epilepsy. The primary MR findings were derived using the inverse variance weighted (IVW) method, which was further supported by the weighted median and MR-Egger regression techniques. Additionally, sensitivity analyses, including Cochran's Q test and pleiotropy tests, were conducted to evaluate the influence of these SNPs on epilepsy, particularly looking for signs of horizontal pleiotropy and heterogeneity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We selected 43 SNPs that reached genome-wide significance from genome-wide association studies (GWASs) on SLE to serve as instrumental variables in this study. The IVW method showed no evidence to support a causal association between SLE and epilepsy (all epilepsy: odds ratio (OR) = 1.006, 95% confidence interval (CI) = 0.994–1.018; focal epilepsy: OR = 1.006, 95% CI = 0.994–1.019; generalized epilepsy: OR = 1.015, 95% CI = 0.996–1.035). Other MR complementary methods revealed consistent results. Furthermore, there was no evidence indicating heterogeneity or horizontal pleiotropy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>The findings of MR analysis did not support a genetically predicted causal relationship between SLE and epilepsy, but emphasized the need for further research on shared pathophysiological mechanisms, particularly the role of immune system abnormalities and potential influences such as chronic inflammation and therapeutic interventions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>The etiology of epilepsy is complex and diverse, including immune factors. Through a Mendelian randomization analysis, we did not find evidence of a genetic causal relationship between systemic lupus erythematosus and epilepsy. However, this does not invalidate epidemiological evidence, and further exploration is needed to investigate factors influencing the relationship between the two.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2274-2282"},"PeriodicalIF":2.8,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633673/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142344238","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}

{"title":"User involvement in the design and development of medical devices in epilepsy: A systematic review","authors":"João Ferreira,&nbsp;Ricardo Peixoto,&nbsp;Lígia Lopes,&nbsp;Sándor Beniczky,&nbsp;Philippe Ryvlin,&nbsp;Carlos Conde,&nbsp;João Claro","doi":"10.1002/epi4.13038","DOIUrl":"10.1002/epi4.13038","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objective&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;This systematic review aims to describe the involvement of persons with epilepsy (PWE), healthcare professionals (HP) and caregivers (CG) in the design and development of medical devices is epilepsy.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;A systematic review was conducted, adhering to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Eligibility criteria included peer-reviewed research focusing on medical devices for epilepsy management, involving users (PWE, CG, and HP) during the MDD process. Searches were performed on PubMed, Web of Science, and Scopus, and a total of 55 relevant articles were identified and reviewed.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;From 1999 to 2023, there was a gradual increase in the number of publications related to user involvement in epilepsy medical device development (MDD), highlighting the growing interest in this field. The medical devices involved in these studies encompassed a range of seizure detection tools, healthcare information systems, vagus nerve stimulation (VNS) and electroencephalogram (EEG) technologies reflecting the emphasis on seizure detection, prediction, and prevention. PWE and CG were the primary users involved, underscoring the importance of their perspectives. Surveys, usability testing, interviews, and focus groups were the methods used for capturing user perspectives. User involvement occurs in four out of the five stages of MDD, with production being the exception.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Significance&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;User involvement in the MDD process for epilepsy management is an emerging area of interest holding a significant promise for improving device quality and patient outcomes. This review highlights the need for broader and more effective user involvement, as it currently lags in the development of commercially available medical devices for epilepsy management. Future research should explore the benefits and barriers of user involvement to enhance medical device technologies for epilepsy.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Plain Language Summary&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;This review covers studies that have involved users in the development process of medical devices for epilepsy. The studies reported here have focused on getting input from people with epilepsy, their caregivers, and healthcare providers. These devices include tools for detecting seizures, stimulating nerves, and tracking brain activity. Most","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2087-2100"},"PeriodicalIF":2.8,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633715/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142344239","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}

{"title":"Limited cerebellar gradient extension in temporal lobe epilepsy with dystonic posturing","authors":"Wei Li,&nbsp;Junxia Chen,&nbsp;Yingjie Qin,&nbsp;Sisi Jiang,&nbsp;Xiuli Li,&nbsp;Heng Zhang,&nbsp;Cheng Luo,&nbsp;Qiyong Gong,&nbsp;Dong Zhou,&nbsp;Dongmei An","doi":"10.1002/epi4.13056","DOIUrl":"10.1002/epi4.13056","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objective&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Dystonic posturing (DP) is a common semiology in temporal lobe epilepsy (TLE). We aimed to explore cerebellar gradient alterations in functional connectivity in TLE patients with and without DP.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Resting-state functional MRI data were obtained in 60 TLE patients and 32 matched healthy controls. Patients were further divided into two groups: TLE with DP (TLE + DP, 31 patients) and TLE without DP (TLP-DP, 29 patients). We explored functional gradient alterations in the cerebellum based on cerebellar–cerebral functional connectivity and combined with independent component analysis to evaluate cerebellar–cerebral functional integration and reveal the contribution of the motor components to the gradient.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;There were no obvious differences in clinical features and postoperative seizure outcomes between TLE + DP and TLE-DP patients. Patients and controls all showed a clear unimodal-to-transmodal gradient transition in the cerebellum, while TLE patients demonstrated an extended principal gradient in functional connectivity compared to healthy controls, which was more limited in TLE + DP patients. Gradient alterations were more widespread in TLE-DP patients, involving bilateral cerebellum, while gradient alterations in TLE + DP patients were limited in the cerebellum ipsilateral to the seizure focus. In addition, more cerebellar motor components contributed to the gradient alterations in TLE + DP patients, mainly in ipsilateral cerebellum.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Significance&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Extended cerebellar principal gradients in functional connectivity revealed excessive functional segregation between unimodal and transmodal systems in TLE. The functional connectivity gradients were more limited in TLE + DP patients. Functional connectivity in TLE patients with dystonic posturing involved more contribution of cerebellar motor function to ipsilateral cerebellar gradient.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Plain Language Summary&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Dystonic posturing contralateral to epileptic focus is a common symptom in temporal lobe epilepsy, and the cerebellum may be involved in its generation. In this study, we found cerebellar gradients alterations in functional connectivity in temporal lobe epilepsy patients with and without contralateral dystonic posturing. In particular, we found that TLE patients with dystonic posturing may have more li","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2251-2262"},"PeriodicalIF":2.8,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633717/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142344236","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}

{"title":"A multicultural comparative study of self-stigma in epilepsy: Differences across four cultures","authors":"Takayuki Iwayama,&nbsp;Kimihito Mizuno,&nbsp;Esra Yildiz,&nbsp;Kheng-Seang Lim,&nbsp;Soon Ming Yi,&nbsp;Yee Joe Lynn,&nbsp;Ching Woon Hin,&nbsp;Jason Chia Zhi Jean,&nbsp;Si-Lei Fong,&nbsp;Yu Xuen,&nbsp;Ong Zhi Qian,&nbsp;Izumi Kuramochi","doi":"10.1002/epi4.13051","DOIUrl":"10.1002/epi4.13051","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objective&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Epilepsy is a neurological disorder characterized by recurrent seizures, exhibiting variance in prevalence and treatment availability across diverse geopolitical contexts and cultural milieus. The stigma associated with epilepsy is a significant global issue affecting the quality of life (QOL) of people with epilepsy (PWE). This study aims to examine the relationship between self-stigma and depressive symptoms in PWE, with a particular emphasis on understanding the manifestations of these across different cultural contexts. We aim to enhance the provision of customized care to diverse cultural settings, fostering the adoption of healthier lifestyles for PWE.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;We recruited PWE who received treatment at specialized medical facilities for epilepsy in Japan, Malaysia (Chinese, Malay), and Turkey from February to October 2023. The Epilepsy Self-Stigma Scales (ESSS), Neurological Disorders Depression Inventory for Epilepsy (NDDI-E), and Generalized Anxiety Disorder 7 (GAD-7) in local languages were used to assess self-stigma, depressive symptoms, and anxiety.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;The ESSS total scores were significantly higher among the Turkish and Japanese cohorts (&lt;i&gt;F&lt;/i&gt; [3, 406] = 6.57, &lt;i&gt;p&lt;/i&gt; &lt; 0.001, &lt;i&gt;η&lt;/i&gt;&lt;sup&gt;2&lt;/sup&gt; = 0.05). In addition, the self-stigma observed moderate positive correlations for depressive symptoms (rs = 0.41–0.50, &lt;i&gt;P&lt;/i&gt;s &lt; 0.001) and anxiety (rs = 0.42–0.44, &lt;i&gt;P&lt;/i&gt;s &lt; 0.001). The ANCOVA findings suggested that the notable variations in self-stigma, as found in the one-way ANOVA conducted across four cultures, were reduced when taking into consideration depressed symptoms. Our finding highlights the potential influence of mental health factors over cultural factors concerning self-stigma.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Significance&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;The manifestation of self-stigmatization within epilepsy exhibits distinctions across diverse cultural cohorts, regardless of the demographic and clinical variation, yet demonstrates a significant correlation with psychological factors. In subsequent research endeavors, we should comprehensively investigate these subtle differences, their potential impact on patient care, and the development of supportive approaches.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Plain Language Summary&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;This cross-cultural study reveals significant variations in self-stigma among people with ep","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2283-2293"},"PeriodicalIF":2.8,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633698/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142344220","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}

{"title":"Evaluating depression in Indonesian adolescents with epilepsy: Comprehensive validation and reliability assessment of the neurological disorders depression inventory-epilepsy for youth Indonesian version (NDDI-E-Y[ID])","authors":"Setyo Handryastuti,&nbsp;Tjhin Wiguna,&nbsp;Novie Amelia Chozie,&nbsp;Bernie Endyarni Medise,&nbsp;Wahyuni Indawati,&nbsp;Cut Nurul Hafifah,&nbsp;Widdy Winarta","doi":"10.1002/epi4.13052","DOIUrl":"10.1002/epi4.13052","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>Epilepsy is a common chronic neurological disorder in pediatrics. Depression is an often underdetected comorbidity in childhood epilepsy. This study aimed to adapt the Neurological Disorders Depression Inventory-Epilepsy for Youth (NDDI-E-Y) to the Indonesian language and population, as well as to validate the Indonesian version of NDDI-E-Y (NDDI-E-Y[ID]).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This three-stage study comprised instrument translation, cultural verification, and content validity testing (first stage), pilot testing (second stage), followed by concurrent validity and reliability testing (third stage) of the NDDI-E-Y(ID). Validation was done against the Centre for Epidemiologic Studies Depression Scale – Revised (CESD-R). Content validity, assessed by six experts, was quantified using the content validity index for items (I-CVI) and scale (S-CVI). Participants were adolescents aged 12–17 years diagnosed with any type of epilepsy who completed both instruments. Concurrent validity was evaluated using Spearman's correlation and reliability was measured using Cronbach's alpha.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The first stage produced a culturally appropriate NDDI-E-Y(ID). Thirty healthy adolescents and 10 adolescents with epilepsy participated in the second stage. In the third stage, another group of 30 adolescents with epilepsy took part. We obtained I-CVI and S-CVI values averaging 1. The NDDI-E-Y(ID) showed a positive and significant correlation with CESD-R (Spearman's rho = 0.671, <i>p</i> &lt; 0.001). A Cronbach's alpha of 0.928 reflected a high internal consistency.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>Based on the results, the NDDI-E-Y(ID) was found to be a valid and reliable screening instrument for detecting depression in youth with epilepsy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>Depression is an under-recognized problem in youth with epilepsy. Currently available depression screening tools are in English, making it less suitable for detection purposes in Indonesia. This study developed and validated the Indonesian version of the NDDI-E-Y, a depression screening tool for youth with epilepsy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2342-2352"},"PeriodicalIF":2.8,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633709/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142344235","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}

{"title":"Total posterior quadrant disconnection for drug-resistant epilepsy in children","authors":"Hao Yu,&nbsp;Chang Liu,&nbsp;Yu Sun,&nbsp;Yao Wang,&nbsp;Qingzhu Liu,&nbsp;Taoyun Ji,&nbsp;Shuang Wang,&nbsp;Xiaoyan Liu,&nbsp;Yuwu Jiang,&nbsp;Ye Wu,&nbsp;Lixin Cai","doi":"10.1002/epi4.13044","DOIUrl":"10.1002/epi4.13044","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objective&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;To assess seizure outcomes, prognostic factors, and developmental changes in children undergoing total posterior quadrant disconnection (PQD) for drug-resistant epilepsy (DRE).&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;We conducted a retrospective analysis of the clinical data of children with DRE who underwent total PQD surgery. The study focused on Engel's classification for seizure outcomes, exploring correlation of preoperative data and surgical effectiveness, and predictors of seizure prognosis. It involved a comparative analysis of developmental levels pre- and 3 months postoperatively using Griffiths Mental Development Scales-China (GMDS-C), and the correlation between clinical characteristics and GMDS-C results.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Out of 61 pediatric patients, 70.5% showed no seizure recurrence postoperatively. In the univariate analysis, interictal electroencephalogram (EEG), magnetic resonance imaging (MRI), fluorodeoxyglucose positron emission tomography (FDG-PET), and acute postoperative seizure (APOS) were significantly related to surgical prognosis. In multivariate analysis, interictal EEG and APOS were identified as predictors of seizure prognosis. Survival analysis indicated significant associations between MRI, interictal EEG, FDG-PET, APOS and postoperative seizure occurrence. Preoperative GMDS-C levels were significantly correlated with epilepsy duration, seizure frequency, interictal EEG, and FDG-PET. GMDS-C scores improved postoperatively, while developmental quotients remained stable.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Significance&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;For patients with structural abnormalities in the entire posterior quadrant, thorough preoperative assessment and timely total PQD surgery can effectively control seizures without causing neurological development deterioration. APOS and interictal EEG abnormalities beyond the posterior quadrant are predictors for seizure prognosis but should not be deemed contraindications for surgery.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Plain Language Summary&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Due to lack of analysis on pediatric total PQD cases, 61 pediatric patients who underwent total PQD surgery were retrospectively enrolled. Seizure and development results were collected and analyzed as dependent variables. The study found that 70.5% of patients were seizure-free and showed development improvement, with no deaths or severe complications reported. Prognosis predictors inc","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2198-2208"},"PeriodicalIF":2.8,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633695/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142282567","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}