Epilepsia Open最新文献

{"title":"Mortality in older adults with epilepsy: An understudied entity","authors":"Syeda Amrah Hashmi,&nbsp;Rithvik Gundlapalli,&nbsp;Ifrah Zawar","doi":"10.1002/epi4.13098","DOIUrl":"10.1002/epi4.13098","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Despite the recognition of Sudden Unexpected Death in Epilepsy (SUDEP) and other risks of premature mortality in people with epilepsy (PWE), mortality in older PWE remains an understudied entity. This review provides a comprehensive overview of the multifaceted causes of premature mortality in older adults with epilepsy and emphasizes the need for targeted interventions to reduce mortality and enhance the quality of life in this vulnerable population. It underscores the heightened prevalence of epilepsy among older adults and the interplay of intrinsic and extrinsic factors contributing to their mortality. Further, this paper delves into the nuances of diagnosing SUDEP in older adults and the underestimation of its incidence due to misclassification and lack of standardized protocols. Factors such as frailty, comorbidities, and the bidirectional relationship between epilepsy and conditions such as dementia and stroke further compound the mortality risks. Key factors, including status epilepticus, comorbid conditions (such as cardiovascular diseases, cerebrovascular events, and neurodegenerative disorders), and external causes like accidents, falls, and suicide, are discussed. It also examines the implications of anti-seizure medications, particularly polypharmacy, and their adverse effects on this population. Future directions include implementing enhanced diagnostic protocols, developing treatment plans, and integrating real-time monitoring technologies to reduce the risk of sudden death and multifaceted premature mortality in this patient population. Increasing awareness among healthcare providers and families about the risks and management of epilepsy in older adults, along with fostering collaborative research efforts, is essential to improve mortality outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>There is a heightened risk of mortality in older people with epilepsy due to many causes unique to their population. Despite the risk, Sudden Unexpected Death in Epilepsy and early mortality in older adults with epilepsy are underestimated. Unique contributing factors include comorbid conditions like dementia, stroke, and frailty, adverse effects from polypharmacy, and increased risks of cardiovascular complications and external injuries such as falls and suicide. A careful consideration of all these factors can help mitigate the mortality in older adults with epilepsy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 1","pages":"15-30"},"PeriodicalIF":2.8,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13098","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142617391","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":"Epilepsy care pathway: The Finnish model","authors":"Reetta Kälviäinen,&nbsp;Zakarya Hadj-Allal,&nbsp;Jarkko Kirjavainen,&nbsp;Reina Roivainen,&nbsp;Tarja Linnankivi,&nbsp;Jukka Peltola,&nbsp;Kai Eriksson,&nbsp;Salla Lamusuo,&nbsp;Tuire Lähdesmäki,&nbsp;Johanna Annunen,&nbsp;Päivi Vieira,&nbsp;Virpi Tarkiainen,&nbsp;Leena Jutila,&nbsp;Anni Saarela,&nbsp;Leena Kämppi,&nbsp;Liisa Metsähonkala,&nbsp;Eija Gaily,&nbsp;Niina Lähde,&nbsp;Jaana Antinmaa,&nbsp;Sini Erme,&nbsp;Anna-Leena Pirttisalo,&nbsp;Jari Virolainen,&nbsp;Milla Ylijoki,&nbsp;Laura Kela,&nbsp;Jonna Komulainen-Ebrahim,&nbsp;Paula Sorjonen,&nbsp;Finnish Severe Epilepsy Coordination Group","doi":"10.1002/epi4.13093","DOIUrl":"10.1002/epi4.13093","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;Integrated care pathways are essential for consistent, effective epilepsy care, offering equal access and quality regardless of socioeconomic status. They must align with the WHO Global Action Plan on Epilepsy, ensuring best practices and cost-effective management. We describe the Finnish national epilepsy care pathway, which includes multiple levels of care, from initial diagnosis to long-term care for all types of epilepsy, with a specific focus on rare and complex cases integrated with the European Reference Network (ERN) for Rare and Complex Epilepsies EpiCARE.&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;In 2017, the Finnish government nominated Kuopio University Hospital to coordinate diagnostics and care for severe epilepsy in Finland. A national multidisciplinary consensus panel, including specialists from both adult and pediatric neurology departments across all five Finnish university hospitals and from the patient organization, was established. The resulting pathway was adopted into the current Finnish evidence-based current care guidelines for epilepsy.&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 Finnish epilepsy care pathway focuses on timely referrals, continuity of care and enhanced communication between healthcare providers at different levels of care. Patient involvement is assured with an individualized digital application offering secure online messaging, a seizure calendar, and remote visits. The pathway enhances virtual consultations and includes regular national diagnostic multidisciplinary meetings for severe epilepsies before selected cases are consulted in ERN EpiCARE meetings.&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;This Finnish model for epilepsy care provides a streamlined, multidisciplinary approach to diagnosis and treatment and combines modern digital tools, data sharing, and peer support. This pathway can serve to model how integrated healthcare systems can effectively manage complex conditions.&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;We describe the Finnish national epilepsy care pathway, which includes multiple levels of care, from initial diagnosis to long-term care for all types of epilepsy, with a specific focus on rare and complex cases integrated with the European Reference Network (ERN) for Rare and Complex Epilepsies EpiCARE. Finnish model for epilepsy care provides a streamlined, multidisciplinary approach to diagnosis and long-te","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"10 1","pages":"177-185"},"PeriodicalIF":2.8,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epi4.13093","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142617383","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":"First-choice hormonal therapies for children with infantile epileptic spasms syndrome in South Asia: A network meta-analysis of randomized controlled trials","authors":"Nagita Devi,&nbsp;Priyanka Madaan,&nbsp;Nidhun Kandoth,&nbsp;Parth Lal,&nbsp;Jitendra Kumar Sahu,&nbsp;Dipika Bansal","doi":"10.1002/epi4.13086","DOIUrl":"10.1002/epi4.13086","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Considering the peculiar challenges with infantile epileptic spasms syndrome (IESS) in South Asia and a wide variation in the usage of hormonal therapies, we compared the efficacy and safety of various hormonal therapies for children with IESS in South Asia. We searched PubMed, Embase, Scopus, and Web of Science databases from the inception until April 2024. We included only randomized clinical trials (RCTs) evaluating the efficacy and safety of hormonal therapies for IESS in the South Asian region. Complete cessation of epileptic spasms (ES), electro-clinical response, and time taken to be spasm-free at 2 or 6 weeks of therapy were efficacy outcomes, while the occurrence of adverse events was the safety outcome. Effect estimates were reported as odds ratio (OR) or mean difference (MD) with 95% confidence intervals (CI) and Cochrane risk of bias 2.0 (ROB 2.0) used for quality assessment of each study. The surface under the cumulative ranking curve (SUCRA) was used to rank the different therapies and reported as a <i>p</i>-score ranging from 0 to 1. Of 747 citations, nine RCTs comprising 566 children with IESS were included. After 2-week treatment, dexamethasone (OR: 6.72; 95% CI: 1.47, 30.72), adrenocorticotropic hormone therapy (ACTH) high dose (HD) (OR: 5.30; 95% CI: 1.05, 26.91), and prednisolone HD (OR: 2.41; 95% CI:1.07, 5.46) had shown significantly greater efficacy for cessation of EScompared with ACTH low dose (LD). Similarly, for electroclinical response, dexamethasone (OR: 9.63; 95% CI: 1.99, 46.70) and prednisolone HD (OR: 3.46; 95% CI: 1.38, 8.68) had greater efficacy compared with ACTH LD. Safety outcomes revealed that hypertension was significantly less common with ACTH LD and prednisolone HD as compared with ACTH HD. This study provides quality evidence on preferred first-choice hormonal therapy for managing IESS in South Asia. ACTH HD, dexamethasone, and prednisolone HD are the most effective hormonal therapy options with dose-dependent therapeutic efficacy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>This study provides insights into the selection of first-line hormonal therapies among the various treatments for managing infantile epileptic spasms syndrome (IESS) in South Asia. The study findings suggested that the effectiveness of these therapies is dose-dependent, with high doses of ACTH, dexamethasone, and prednisolone being the most effective for achieving cessation of epileptic spasms.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2037-2048"},"PeriodicalIF":2.8,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633672/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603754","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":"Lateralization of memory function in temporal lobe epilepsy using scene memory fMRI","authors":"William S. Tackett,&nbsp;Dawn Mechanic-Hamilton,&nbsp;Sandhitsu Das,&nbsp;Marissa Mojena,&nbsp;Joel M. Stein,&nbsp;Kathryn A. Davis,&nbsp;John A. Detre","doi":"10.1002/epi4.13069","DOIUrl":"10.1002/epi4.13069","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Functional magnetic resonance imaging (fMRI) offers an alternative to the traditional Wada test for presurgical language and memory lateralization that carries almost no risk. However, fMRI lateralization of episodic memory remains challenging because the hippocampus, which is fundamental to episodic memory, is smaller, more prone to susceptibility artifact, and harder to functionally modulate than language regions. We previously showed that a complex scene memory task can lateralize memory function in the mesial temporal lobe. Using data acquired from <i>N</i> = 45 patients with temporal lobe epilepsy acquired with an improved stimulus paradigm and high-resolution fMRI, we now demonstrate that memory activation can be successfully lateralized within hippocampus proper.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>Epilepsy surgery can improve seizure control in patients with temporal lobe epilepsy (TLE) that cannot be controlled with medications also, but ablation or removal of temporal lobe brain tissue can also cause cognitive deficits. Functional MRI (fMRI) can noninvasively map brain activation and perform well in lateralizing and localizing language function, but localizing and lateralizing memory function is more challenging. Building upon prior work using complex scene encoding to map memory function, we demonstrate that the use of high-resolution fMRI along with an optimized task paradigm allows memory activation to be detected within the hippocampus. Because the hippocampus is both a common site of TLE and a key region underlying memory, this approach is expected to contribute to presurgical evaluation of TLE.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2487-2494"},"PeriodicalIF":2.8,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633686/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603755","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":"Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic","authors":"Yara Hussein,&nbsp;Hila Weisblum-Neuman,&nbsp;Bruria Ben Zeev,&nbsp;Shani Stern","doi":"10.1002/epi4.13085","DOIUrl":"10.1002/epi4.13085","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Epilepsy is a chronic neurological disorder related to various etiologies, and the prevalence of active epilepsy is estimated to be between 4 and 10 per 1000 individuals having a significant role in genetic mutations. Next-Generation Sequencing (NGS) panels are utilized for genetic testing, but a substantial proportion of the results remain uncertain and are not considered directly causative of epilepsy. This study aimed to reevaluate pediatric patients diagnosed with epilepsy who underwent genetic investigation using NGS panels, focusing on inconclusive variant findings or multiple variants of uncertain significance (VUSs).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A subgroup of pediatric patients aged 0–25 years, diagnosed with epilepsy, who underwent genetic investigation with an NGS epilepsy panel at the Child Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, between 2018 and 2022 through Invitae, was reevaluated. Patients with inconclusive variant findings or multiple VUSs in their test results were included. Genetic data were analyzed to identify potentially pathogenic variants and frequent genetic combinations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Two unrelated potentially pathogenic variants were identified in the SCN9A and QARS1 genes. A frequent genetic combination, RANBP2&amp;RYR3, was also observed among other combinations. The RANBP2 gene consistently co-occurred with RYR3 variants in uncertain results, suggesting potential pathogenicity. Analysis of unaffected parents' data revealed certain combinations inherited from different parents, suggesting specific gene combinations as possible risk factors for the disease.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>This study highlights the importance of reevaluating genetic data from pediatric epilepsy patients with inconclusive variant findings or multiple VUSs. Identification of potentially pathogenic variants and frequent genetic combinations, such as RANBP2&amp;RYR3, could aid in understanding the genetic basis of epilepsy and identifying potential hotspots.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>We have performed a retrospective analysis on a subpopulation of pediatric patients diagnosed with epilepsy. We found that specific genetic variants were repeatable, indicating their potential pathogenicity to the disease.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2443-2453"},"PeriodicalIF":2.8,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603758","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":"Chemical analysis and concentrations of cannabidiol substances used for refractory epilepsy in Chilean patients. An underestimated worldwide risk","authors":"Loreto Ríos-Pohl,&nbsp;Macarena Franco,&nbsp;Daniel Navea,&nbsp;Viviana Venegas,&nbsp;Tomás Cerda","doi":"10.1002/epi4.13081","DOIUrl":"10.1002/epi4.13081","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;The purpose of this study is to analyze composition of HMS (homemade CBD), NLS (non-licensed commercial products), and bioequivalent CBD (BES) collected from Chilean patients that voluntary accepted to analyze the “CBD-substance.”&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;Samples were collected through an open invitation for different patients to anonymously and free of charge participate in the analysis of CBD oil. The analysis of the active principle was performed using High-Resolution Liquid Chromatography (HPLC).&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;A total of 35 samples were collected between March 2020 and September 2021, including two BES, six NLS, and 27 HMS products.&lt;/p&gt;\u0000 \u0000 &lt;p&gt;The BES had an average CBD concentration of 89.15 mg/mL and an average THC concentration of 0.015 mg/mL, which complied with the maximum THC levels required by regulatory authorities (&lt;0.2% THC.).&lt;/p&gt;\u0000 \u0000 &lt;p&gt;The NLS (six samples) exhibited significant variability in CBD concentrations, ranging from a maximum of 78.5 mg/mL to a minimum of 0.1 mg/mL, with an average of 25.41 mg/mL. The THC concentrations ranged from 0 mg/mL to 2.43 mg/mL with an average of 0.62 mg/mL.&lt;/p&gt;\u0000 \u0000 &lt;p&gt;The HMS products exhibited even higher variations of CBD concentrations, ranging from 0 to a maximum of 6.6 mg/mL. THC concentrations were even more variable, ranging from 0 mg/mL to 388 mg/mL.&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 medical community and patients involved should be aware that Hemp products are not pure and/or innocuous. HMS are likely to have high levels of THC and very low CBD, far away from therapeutic doses of CBD. CBD used in epilepsy should be restricted to licensed products, especially in children where THC toxicity is much more harmful.&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;The study analyzed three types of CBD (cannabidiol) oils: homemade, non-licensed, and bioequivalent. Homemade and non-licensed products showed nonacceptable variance of CBD and THC concentration (tetrahydrocannabinol), in some cases with 0 mgs of CBD and many beyond THC maximum accepted. The THC is another component found in cannabis and is responsible for the neurotoxic effects. Only bioequivalent products showed concentrations of CBD and THC acceptable for epilepsy treatment, therefore are the only products recommended for suc","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2546-2552"},"PeriodicalIF":2.8,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633677/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582618","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":"Response to amoxicillin and perampanel in infantile Alexander disease","authors":"Susana Boronat,&nbsp;Eulalia Turon-Viñas,&nbsp;Noel Mac Manus,&nbsp;Asuncion Diaz-Gomez,&nbsp;Mónica Vicente,&nbsp;Victoria Ros-Castelló,&nbsp;Alba Sierra-Marcos","doi":"10.1002/epi4.13077","DOIUrl":"10.1002/epi4.13077","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;p&gt;Type I Alexander disease (AxD) presents with paroxysmal neurodegeneration, refractory epilepsy, and encephalopathy in the first years of life and is associated with a poor prognosis. Although there is no treatment, mild symptomatic improvement has been reported in one case of adult Alexander treated with ceftriaxone, given its interaction with the mutant glial fibrillary acid protein (GFAP) responsible for the disease's pathogenesis. We describe a patient presenting with irritability starting at 2 months of age, initially attributed to gastroesophageal reflux. A ventriculoperitoneal shunt was placed at 3 months of age due to hydrocephalus secondary to aqueduct stenosis detected through an MRI scan, but the irritability persisted. At 5 months, a new brain MRI was performed due to irritability worsening, onset of abnormal ocular movements and seizures. In addition genetic testing was performed. AxD was diagnosed due to the mutation c.716G&gt;A (p.Arg239His) in GFAP. Since irritability had worsened and had not responded to levomepromazine, treatment with amoxicillin (80 mg/kg/day) was attempted to modulate glutamate levels. The patient showed a striking improvement of irritability in 48 h that persisted over the next months. The patient had frequent daily seizures which did not respond to valproate, clonazepam, or phenobarbital. Perampanel, a postsynaptic AMPA receptor antagonist, was added to phenobarbital and he was seizure free for more than 3 months. Drugs modulating glutamate levels in the central nervous system, including β-lactam antibiotics and perampanel, may have an important role in the symptomatic treatment of AxD and other neurodegenerative diseases where glutamatergic excitotoxicity is a pathogenic determinant.&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;Alexander disease is a rare and serious condition that affects the brain, often leading to neurodegeneration (brain damage), seizures, and other problems in early childhood. The disease is caused by a mutation in a gene called GFAP. There is no cure, and current treatments mainly focus on relieving symptoms. This article discusses the case of a baby who showed signs of irritability and seizures from a young age. The baby was diagnosed with Alexander disease after brain scans and genetic testing. Despite treatment with various drugs, the baby continued to experience seizures and irritability. The doctors decided to try amoxicillin, a common antibiotic, because of its potential to help control the disease by affecting a brain chemical called glutamate. Surprisingly, the baby's irritability improved within 2 days of starting amoxicillin, and the improvement lasted for several months. However, the seizures persisted until another medication, perampanel, was added. This combination contr","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2505-2509"},"PeriodicalIF":2.8,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633705/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582619","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":"Acute depletion of complement C3 with cobra venom factor attenuates memory deficits induced by status epilepticus","authors":"Nicole D. Schartz,&nbsp;Yibo Li,&nbsp;Alexandra L. Sommer,&nbsp;Amy L. Brewster","doi":"10.1002/epi4.13030","DOIUrl":"10.1002/epi4.13030","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;Status epilepticus (SE) significantly increases the risk for the development of unprovoked seizures, memory loss, and temporal lobe epilepsy. Our prior studies showed that SE increases complement C3 signaling in the hippocampus, which parallels memory deficits. Additionally, C3 knockout (KO) mice were protected against SE-induced memory impairments, suggesting a mechanistic role for C3 in this pathophysiology. In this study, we utilized cobra venom factor (CVF), a structural analog of C3 that results in its depletion, to investigate the protective effects of post-SE C3 ablation on memory deficits that develop during epileptogenesis.&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;SE was induced in male rats using the chemoconvulsant pilocarpine. Two weeks later, control (C) and SE rats were treated with either vehicle (V) or CVF. Recognition memory was assessed using the novel object recognition (NOR) test in four groups (C + V, C + CVF, SE + V, and SE + CVF). Immunoblotting was used to measure hippocampal protein levels of C3 along with synaptic, astrocyte, and blood–brain barrier (BBB) stability markers, Psd95, GFAP, and albumin, respectively.&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;In the NOR test, rats in the C + V and C + CVF groups spent more time exploring the novel object. SE + V rats explored both objects equally, while SE + CVF rats spent significantly more on the novel object, suggesting a rescue of cognitive performance by CVF. While CVF-mediated C3 depletion did not restore normal protein levels of Psd95 or GFAP in hippocampi of SE + CVF rats, CVF treatment attenuated SE-induced extravasation of albumin, suggesting potential rescue of BBB stability.&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;Our findings indicate that acute C3 depletion with CVF can attenuate memory deficits that develop during SE-induced epileptogenesis. This finding further suggests that targeting C3 could hold promise in addressing cognitive comorbidities associated with SE and acquired 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;A long-lasting seizure, known as status epilepticus (SE), can raise the chance of having more seizures in the future and can lead to memory problems. While the exact reasons for these issues are not completely known, it is believed that brain inflammation might be involved. In this study, we show that the activation of the body's immune response, especially a part","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2173-2185"},"PeriodicalIF":2.8,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633766/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582578","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":"Evaluation of self-stigma in patients with epilepsy: Validation of the self-stigma scale to Spanish (ESSS-S)","authors":"Isabel Manzanares,&nbsp;Izumi Kuramochi,&nbsp;Marta Olivera,&nbsp;María Centeno,&nbsp;Mariam Khawaja,&nbsp;Luis Pintor,&nbsp;Antonio Donaire,&nbsp;María del Mar Carreño,&nbsp;Estefanía Conde-Blanco","doi":"10.1002/epi4.13071","DOIUrl":"10.1002/epi4.13071","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;The Epilepsy Self-Stigma Scale (ESSS) has been developed in Japan for patients with epilepsy (PWE). We aimed to validate the scale in Spanish and examine its validity and reliability.&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;The transcultural adaptation of the ESSS was conducted using translation and back-translation, along with pilot testing and an expert panel review. An online questionnaire was used to assess construct validity, criterion validity, and internal consistency.&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;A total of 260 out of 628 participants completed the questionnaires. We found a two-factor structure that explained 61.3% of the total variance: factor 1 “self-perceived discrimination” with a Cronbach's alpha of 0.80, and factor 2 “social isolation” with a Cronbach's alpha of 0.75. The reliability of overall ESSS-S 8-item scores was high (Cronbach's alpha = 0.74). Convergent validity was tested and demonstrated a significant correlation. P.&lt;/p&gt;\u0000 \u0000 &lt;p&gt;Self-perceived discrimination scores were associated with higher anxiety and depression scores (&lt;i&gt;r&lt;/i&gt; = 0.53/0.54; &lt;i&gt;p&lt;/i&gt; &lt; 0.001), lower self-esteem (−0.53; &lt;i&gt;p&lt;/i&gt; &lt; 0.001), and lower quality of life (&lt;i&gt;r&lt;/i&gt; = −0.66; &lt;i&gt;p&lt;/i&gt; &lt; 0.001). Social isolation scores were associated with higher anxiety and depression scores (&lt;i&gt;r&lt;/i&gt; = 0.41/0.33; &lt;i&gt;p&lt;/i&gt; &lt; 0.001), lower self-esteem (−0.34; &lt;i&gt;p&lt;/i&gt; &lt; 0.001), and lower quality of life (&lt;i&gt;r&lt;/i&gt; = −0.35; &lt;i&gt;p&lt;/i&gt; &lt; 0.001). Temporal reliability was also tested, showing a test–retest ICC of 0.87. The mean self-stigma score in the Spanish population was 17.68 ± 5.45 out of 32 points. Invariance across gender and age groups indicated that there are no systematic response biases by gender or age, so stratified scores could be related to other constructs.&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 Spanish version of ESSS (ESSS-S) is a valid and reliable tool for the assessment of self-stigma in PWE among Spanish speakers.&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 study aimed to validate the Epilepsy Self-Stigma Scale (ESSS) for Spanish speakers (ESSS-S). We conducted transcultural adaptation of the scale. ESSS-S showed high reliability and strong validity, correlating with higher anxiety and depression, lower self-esteem, and quality of life. ESSS-S is a reliable and valid tool for assessing self-stigma in Spanish-","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2384-2394"},"PeriodicalIF":2.8,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633716/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142568181","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":"Epilepsy in CHAD: Realities, constraints, and prospects","authors":"Foksouna Sakadi,&nbsp;Madjirabe Ngardidjim Christian,&nbsp;Toure Mohamed Lamine,&nbsp;Kamis Dakisia,&nbsp;Nderbe Melom Christelle,&nbsp;Diponbe Doufene,&nbsp;Lintel Anicet Foksia,&nbsp;Carlos Othon Nguelngar,&nbsp;Anatole Balanmo,&nbsp;Kobada Babing-ne,&nbsp;Desire Nalire,&nbsp;Cisse Amara","doi":"10.1002/epi4.13087","DOIUrl":"10.1002/epi4.13087","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Epilepsy is a significant public health problem. More than 50 million people worldwide live with epilepsy, and over three-quarters of them are in low- and middle-income countries. The situation in Chad regarding people with epilepsy is challenging to assess, starting from the shortage of scientific data, the inadequacy of technical facilities, the lack of human resources, and the inadequacy of government action. The Ministry of Health and Chadian Society of Neurology are looking forward to prioritizing epilepsy as well as improving the living conditions of persons with this disease.</p>\u0000 \u0000 <p>The epilepsy treatment issue is also problematic. Most of the patients are either off treatment or under-medicated. Few antiseizure medications (ASMs) are available, notably carbamazepine, phenobarbital, and valproic acid. Epilepsy remains little-known and does not seem to be a priority for decision-makers. We describe the current situation in Chad, to improve the conditions under which epilepsy is treated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>Epilepsies is a chronic brain problem that is common in poorer settings. The daily lives of people with epilepsy are chaotic in Chad. The challenges are numerous, particularly those related to health infrastructures, due to the lack of adequate diagnostic means and the lack of neurologists. The cultural and language challenges, especially since epilepsy is still considered the devil's disease and the name differs according to the dialects. Stigmatization is also frequent and is often responsible for school dropout, refusal, or dismissal from work. Care and prevention are daily challenges that require government action. Social coverage is insufficient and almost absent in rural areas. It is urgent to prioritize epilepsy in future action plans and also to increase awareness of the conditions to overcome these challenges.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"9 6","pages":"2049-2054"},"PeriodicalIF":2.8,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633671/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142568177","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}