Epilepsia Open最新文献

{"title":"Three cases of atypical Rasmussen's encephalitis with delayed-onset seizures.","authors":"Hongru Guo, Pan Gong, Guojing Yu, Chongyang Tang, Guoming Luan, Qingzhu Liu, Lixin Cai, Taoyun Ji","doi":"10.1002/epi4.13136","DOIUrl":"https://doi.org/10.1002/epi4.13136","url":null,"abstract":"<p><p>We retrospectively analyzed the clinical characteristics of three ARE cases with delayed-onset seizures treated at Peking University First Hospital and Sanbo Brain Hospital from May 2021 to January 2023. We also reviewed previously reported atypical cases of Rasmussen's encephalitis (RE) in the literature, summarizing onset symptoms, seizure symptomatology, imaging findings, electroencephalogram (EEG) results, treatment course, and prognosis. The onset age of the three cases ranged from 1 year and 9 months to 7 years and 5 months. All three initially presented with limb motor disorders, which progressively worsened. Two cases developed focal seizures within 1 month of onset, whereas the third case had no seizures over 3 years. Brain MRIs revealed progressive unilateral hemispheric atrophy with multifocal abnormal signals, and PET-CT showed decreased metabolism in the affected hemisphere. EEGs exhibited asymmetric background rhythms with slow waves in the affected hemisphere. In the two children with seizures, epileptiform discharges from the affected hemisphere were recorded, including one case of sustained partial epilepsy. One child was initially diagnosed with autoimmune encephalitis, whereas two were suspected of having RE at onset. The two children with seizures were treated with immunotherapy and various antiseizure medications. Both underwent hemispherectomy because neither seizures nor limb motor disorders were effectively controlled. Post-surgery, neither experienced seizures during 2 years of follow-up, and both showed cognitive and motor improvements. The child without seizures received intermittent steroids and immunoglobulin therapy over 3 years. During 18 months of follow-up, the patient's motor function improved, and no seizures occurred. Seizures are common initial symptoms of RE. Such cases are often misdiagnosed or missed, leading to delays in optimal treatment. If symptoms are predominantly unilateral and EEG and imaging findings show laterality, the possibility of RE should be considered. Early diagnosis and treatment can reduce unnecessary investigations and improve prognosis. PLAIN LANGUAGE SUMMARY: Rasmussen's encephalitis (RE) is a rare disease that typically begins with seizures and generally has a poor prognosis. However, over the past 20 years, there have been reports of RE cases where the initial symptoms are not seizures. Our center has diagnosed and treated three such cases in the past 5 years. We aim to provide an overview of these atypical RE patients, focusing on clinical features, electroencephalographic (EEG) findings, and imaging characteristics to inspire early detection and diagnosis of RE, thus improving treatment timing and outcomes for RE patients.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"GATAD2B-related developmental and epileptic encephalopathy (DEE): Extending the epilepsy phenotype and a literature appraisal.","authors":"Giovanna Scorrano, Giulia Barcia, Jérôme Champ, Thomas Courtin, Nathalie Boddaert, Anna Kaminska, Nicole Chemaly, Rima Nabbout","doi":"10.1002/epi4.13133","DOIUrl":"https://doi.org/10.1002/epi4.13133","url":null,"abstract":"<p><p>Heterozygous pathogenic variants in GATAD2B gene have been related to the GATAD2B-associated neurodevelopmental disorders (GAND) characterized by neurodevelopmental delay with predominant language impairment, infantile hypotonia, macrocephaly, ophthalmological abnormalities, and dysmorphic facial features with nonspecific findings on brain magnetic resonance imaging (MRI). Occasionally, affected individuals exhibit drug responsive epilepsy, psychiatric disorders, and other extra-neurological comorbidities. We report a patient carrying a de novo heterozygous missense variant in GATAD2B gene. She presents a developmental and epileptic encephalopathy (DEE) with drug-resistant atypical absences. An extensive review of the literature did not show any similar phenotype. Our report broadens the electroclinical spectrum related to GATAD2B pathogenic variants and supports the inclusion of this monogenic etiology among the genetic causes of epilepsy with drug-resistant atypical absences, a group with few known genetic etiologies. PLAIN LANGUAGE SUMMARY: We describe a patient with drug-resistant atypical absences caused by a pathogenic variant in the GATAD2B gene. Mutations in the GATAD2B gene should be considered among the rare monogenic causes of atypical absences.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143457218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intrinsic brain network stability during kainic acid-induced epileptogenesis.","authors":"Nastaran Jafari, Lingna He, Charbel Bou Khalil, Hsiang J Yeh, Neil G Harris, John M Stern, Jerome Engel, Anatol Bragin, Lin Li","doi":"10.1002/epi4.70002","DOIUrl":"https://doi.org/10.1002/epi4.70002","url":null,"abstract":"<p><strong>Objective: </strong>Altered intrinsic brain networks have been revealed in patients with epilepsy and are strongly associated with network reorganization in the latent period. However, the development and reliability of intrinsic brain networks in the early period of epileptogenesis are not well understood. The current study aims to fill this gap by investigating the test-retest reliability of intrinsic brain networks in the early stage of epileptogenesis.</p><p><strong>Methods: </strong>We used the rat intrahippocampal kainic acid model of mesial temporal lobe epilepsy. Three sessions of resting-state functional magnetic resonance imaging (rs-fMRI) data were acquired over a 2-week period from 9 sham control rats and 12 rats that later developed spontaneous epilepsy (KA). A group independent component analysis (GICA) approach was used to identify the intrinsic brain networks. Both within and between networks were identified, and test-retest reliability was assessed using the intraclass correlation coefficient (ICC).</p><p><strong>Results: </strong>Our results showed good-to-excellent within-network stability of resting-state functional brain connectivity in most intrinsic brain networks in sham control rats and in the KA group, except for frontal cortex (FCN) and hippocampal networks (HPN). Further analysis of the between networks showed an increase in variation in the KA brain compared to the sham controls.</p><p><strong>Significance: </strong>Overall, our study demonstrated a \"moderately stable\" phase of the intrinsic brain network in a 2-week latent period window, with an altered between- and within-network connectome feature.</p><p><strong>Plain language summary: </strong>This fMRI study explored how brain connectivity changes in healthy animals compared to animals in the latent period of epilepsy. We found that functional connectivity increased during the latent period compared to the control group, and this increase persisted across all tested sessions. Additionally, brain networks became less stable in the epilepsy group, particularly in the frontal cortex and hippocampus. These observations provide further insight into how brain networks change and persist during the early stages of epileptogenesis.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143457220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic yield of utilizing 24-72-hour video electroencephalographic monitoring in the diagnosis of seizures presenting as paroxysmal events in resource-limited settings.","authors":"Chukwudi Nwogu, Chukwuma Nwaze, Adaeze Avah, Benjamin Anyanwu, Chinekwu Anyanwu","doi":"10.1002/epi4.70000","DOIUrl":"https://doi.org/10.1002/epi4.70000","url":null,"abstract":"<p><strong>Objective: </strong>Long-term video electroencephalogram monitoring (LTVEM) is a standard practice in epilepsy centers to diagnose and characterize paroxysmal events. With the lack of data on LTVEM in Africa, we aimed to determine the clinical yield of LTVEM performed for 24-72 h to diagnose seizures in an epilepsy center in Nigeria.</p><p><strong>Methods: </strong>This was a retrospective review of all patients admitted to our Epilepsy Monitoring Unit (EMU) from September 2018 to September 2021, with monitoring lasting between 24 and 72 h. We reviewed the patients' seizure semiology, time to the first event, and final diagnosis. The frequency of seizures was classified as \"daily\" in patients with one or more seizures per day, \"persistent\" in patients with less than one seizure per day but at least once in 6 months, and \"rare\" in patients with less than one seizure in 6 months. Patients with unclear duration due to recent onset were classified as \"undefined\".</p><p><strong>Results: </strong>Seventy patients (34 males, 36 females) were included in our study. The mean age was 22.86 ± 18.00 years. The average duration of monitoring was 44.23 ± 16.16 h. Fifty-seven patients (81.4%) were confirmed to have seizures. Thirteen patients experienced non-epileptic events. Of these 13 patients, nine were diagnosed with psychogenic non-epileptic spells (PNES). Two patients were diagnosed with essential myoclonus and two patients were diagnosed with syncope. The time to the first interictal epileptiform discharge was within 8 h. In the first 24 h, 56 of 57 patients had ictal and interictal discharge (98.2%). These included 100% daily seizures, 100% persistent seizures, and 100% undefined events. One rare seizure was observed within 48 h.</p><p><strong>Significance: </strong>The diagnostic yield of the LTVEM in well-selected patients for seizures in this study is 81.4%. Most patients received a diagnosis within 48 h of monitoring, and we found that extending the study beyond 72 h may not offer significant additional benefits in diagnosing seizures in patients presenting with paroxysmal events.</p><p><strong>Plain language summary: </strong>There is limited information about the usefulness of long-term video electroencephalogram (EEG) monitoring in diagnosing seizures in Africa. Several conditions that resemble seizures (paroxysmal events) could be misdiagnosed, leading to inappropriate treatment. This study evaluated the effectiveness of 24- to 72-h video EEG monitoring in diagnosing seizures at an epilepsy center in Nigeria. Among 70 patients, 81.4% were diagnosed with seizures, with most diagnoses made within 48 h. The findings suggest that video EEG performed within 48 h can significantly help distinguish seizures from other paroxysmal events, thereby contributing to better management and outcomes.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143457314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spike detection in the wild: Screening of suspected temporal lobe epilepsy cases using a tailored 2-channel wearable EEG.","authors":"Daniel Filipe Borges, Joana Isabel Soares, Daniela Dias, Helena Cordeiro, Alberto Leal","doi":"10.1002/epi4.70004","DOIUrl":"https://doi.org/10.1002/epi4.70004","url":null,"abstract":"<p><strong>Objective: </strong>To clinically validate the contribution of a custom-built EEG wearable device (waEEG) compared to a full 10-20 electrode array ambulatory EEG (aEEG) for screening epilepsy cases in patients with suspected temporal lobe epilepsy (TLE) but negative routine EEGs.</p><p><strong>Methods: </strong>Patients (aged 16-91 years) with clinically suspected TLE who were referred for a 24 h aEEG were fitted with an additional 2-channel bipolar waEEG device and prospectively enrolled in the study until 20 TLE diagnoses were confirmed by aEEG. 41 patients were included and their waEEG was blindly reviewed by two experienced clinical neurophysiologists and a semi-automated spike detection software to categorize patients into TLE (spikes present) and non-TLE (no spikes) groups.</p><p><strong>Results: </strong>The experts achieved good sensitivity (95%-100%) and accuracy (98%-93%) with excellent interrater agreement (kappa>0.80) in patient labelling. The semi-automated software performed poorly (40% sensitivity, 68% accuracy) and failed to classify TLE in more than half the cases. Classification was not affected by restricting spike detection to the evening and night time, which reduced the average length of the analyzed EEG from 23.4 to 10.4 h. Three false-positive spike detections were thoroughly analyzed and reclassified as artifacts due to eye and body movements and electrocardiographic contamination. To better control cardiac artifacts, the addition of an ECG channel to the waEEG is recommended.</p><p><strong>Significance: </strong>Detection of spikes with waEEG allows accurate detection of epilepsy in suspected TLE cases, with less technical and professional effort and improved acceptance. This screening tool could improve the yield of follow-up with a conventional aEEG and provide an accessible method for monitoring interictal epileptiform activity in TLE.</p><p><strong>Plain language summary: </strong>Epilepsy is a chronic short circuit in the brain. In adults, it most often affects the temporal lobes, resulting in temporal lobe epilepsy (TLE). Seizures are infrequent but difficult to treat. Electroencephalography (EEG) is the best method to detect the electrical disturbances and is crucial to distinguish epilepsy from other non-epileptic disorders. Developing simple, inexpensive and easily accessible portable EEG methods that complement in-hospital assessment could significantly impact patient care. Our study aims to clinically validate a wearable epilepsy screening device to aid in TLE management, reduce delays in diagnosis and enable straightforward assessment of epileptic activity.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Self-limited familial focal epilepsy caused by ANK2 variants: A potentially under-recognized condition.","authors":"Po-Hsi Lin, Chen-Jui Ho, Chih-Hsiang Lin, Ya-Yuan Hou, Cheng-Han Chan, Meng-Han Tsai","doi":"10.1002/epi4.70003","DOIUrl":"https://doi.org/10.1002/epi4.70003","url":null,"abstract":"<p><p>The Ankyrin 2 (ANK2) gene encodes the ankyrin-B protein (ANKB), which is involved in the organization and stability of membrane ion channels, transporters, and receptors in cardiomyocytes and neurons. Variants in ANK2 genes are initially reported in long QT syndrome and autism. Animal models with ANK2 deletion have exhibited seizures and been anecdotally associated with epilepsy in case reports. Hereby, we reported a Taiwanese family with the ANK2 pathogenic variant (chr4:114276707, c.6933del, p.T2312Lfs*2) that affects the giant ankyrin-B isoform. The family members presented with young-onset self-limited focal epilepsy, and achieved seizure-free in adulthood with antiseizure medications. Interestingly, the electrocardiogram revealed no obvious cardiac phenotype. We further reviewed reported ANK2-related epilepsies. Most variants are de novo and loss-of-function variants. Most patients had young epilepsy or neonatal seizures. Notably, most cases of ANK2-related epilepsy are self-limited and pharmaco-responsive, which suggests that it is likely to be underdiagnosed. With the increased availability of whole exome sequencing, the diagnosis of ANK2-related epilepsies may increase. The co-existence of QT prolongation on electrocardiogram, autism, and a positive family history of cardiac arrhythmia or sudden death may provide important clues in the clinical diagnosis of ANK2-related epilepsy. Furthermore, a correct genetic diagnosis of ANK2-related epilepsy will initiate close cardiac surveillance to avoid the potential sudden death risk of this disorder. PLAIN LANGUAGE SUMMARY: ANK2 has long been regarded as an arrhythmic gene. This study reported the first familial ANK2-related epilepsy, highlighting the role of ANK2 in epileptogenesis. Most reported ANK2-related epilepsies are self-limited and pharmaco-responsive, suggesting that they are likely to be underdiagnosed. Literature review of the phenotype and genotype of ANK2 showed that LOF ANK2 variants tend to have CNS phenotypes, whereas missense variants are arrhythmic. Early detection of ANK2 variants in epilepsy patients is worthwhile considering the potential sudden death risk of this disorder.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictive value of electrographic neonatal seizures for later epilepsy: A call for a broader perspective.","authors":"Lucia Fusco","doi":"10.1002/epi4.70010","DOIUrl":"https://doi.org/10.1002/epi4.70010","url":null,"abstract":"<p><p>This is a letter to the editor commenting on a recently published study on electrographic seizures as predictors of epilepsy in neonates with encephalopathy. The letter highlights potential overemphasis on electrographic neonatal seizures, underscores the importance of severely abnormal EEG backgrounds and advanced neuroimaging, and suggests incorporating genetic analyses for a more comprehensive understanding.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disparities in the utilization of genetic testing for non-acquired infantile epileptic spasms syndrome in a single healthcare center in North Carolina.","authors":"Kenza El Marzouki, Bridley K Jenkins, Tamy Moraes Tsujimoto, Huijun Jiang, Emma B Cardwell, Martin Arhin, Unwana Eyo, Cristian Gonzalez-Rodriguez, Stephanie Peck, Feng-Chang Lin, Senyene E Hunter","doi":"10.1002/epi4.13140","DOIUrl":"https://doi.org/10.1002/epi4.13140","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To investigate disparities in the utilization of genetic sequencing among children with Infantile Epileptic Spasms Syndrome (IESS), a severe early-onset epilepsy where timely diagnosis and treatment are crucial for improving neurodevelopmental outcomes, previous studies have highlighted disparities in the evaluation and management of IESS. Genetic sequencing has emerged as a crucial tool in diagnosing unexplained epilepsies, offering precise etiological insights that can guide management. Despite guidelines recommending genetic sequencing for all unexplained epilepsies, little is known about how demographic and clinical factors influence the utilization of genetic sequencing in children with IESS.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Retrospective cross-sectional cohort study, of 121 children diagnosed with IESS (2015-2020) within a single healthcare system. The primary outcome was the association between the utilization of genetic sequencing and demographic factors (race, ethnicity, language, rurality, and insurance status). Secondary outcomes included the utilization of genetic sequencing and its association with healthcare providers or clinical characteristics.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Genetic sequencing was performed in 64% (n = 74) of the patients with IESS. Race was significantly associated with the utilization of genetic sequencing, with non-Hispanic Black/African American children having significantly lower odds of undergoing genetic testing (OR = 0.19, 95% CI = 0.04-0.74, p = 0.02). No significant associations were found between language, rurality, or insurance status and the utilization of genetic sequencing. Notably, a low number of patients were from small towns and rural areas (7%). Clinical measures of seizure severity, including the presence of additional seizure types (p = 0.039) and the use of interventions in addition to standard IESS treatments (p = 0.01), were associated with higher rates of genetic sequencing.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Significance: &lt;/strong&gt;Non-Hispanic Black/African American children with IESS were less likely to undergo genetic sequencing. These findings underscore the need for evidence-based solutions addressing genetic sequencing utilization that may disproportionately impact children with IESS from medically underserved groups.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Plain language summary: &lt;/strong&gt;This study looked at how genetic testing is used in children with Infantile Epileptic Spasms Syndrome (IESS), a serious type of epilepsy. The results showed that Black/African American children were much less likely to receive genetic testing compared to children of other racial groups, even though this testing is important for diagnosing and treating IESS. The study also found that only 7% of children in the study came from small towns or rural areas, suggesting that children in these areas may not have the same access to healthcare. These findings show the need for more research to understand and address gaps i","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The use of steroids in adult epilepsy: A systematic review.","authors":"Ruth Walsh, Colin P Doherty, Elisabeth Doran","doi":"10.1002/epi4.13019","DOIUrl":"https://doi.org/10.1002/epi4.13019","url":null,"abstract":"<p><strong>Objective: </strong>The objective of this study is to systematically review the clinical studies investigating the use of steroids in adult epilepsy.</p><p><strong>Methods: </strong>This systematic review utilized Preferred Reporting Items for Systematic Review and Meta-analysis Protocols (PRISMA-P) to examine literature on the use of steroids in adult epilepsy. Three databases, Embase, PubMed and Medline, were searched and clinical studies fitting the inclusion and exclusion criteria were included for review.</p><p><strong>Results: </strong>There were 4333 articles retrieved after duplicates were removed and 16 met the inclusion criteria. Three of these studied corticosteroid use in seronegative autoimmune epilepsies. There was one study that examined the use of corticosteroids in adult-onset Rasmussen's Encephalitis. There were three studies which described the use of neurosteroids in various forms of adult epilepsy. The remaining 9 studies were pertaining to the use of corticosteroids in refractory status epilepticus.</p><p><strong>Significance: </strong>Steroids show favorable outcomes in many forms of adult epilepsy. Yet, there is a paucity of data supporting implementation of this treatment in practice. High-level evidence such as Randomized-Controlled Trials investigating the use of corticosteroids in adult epilepsy are required, particularly those examining seronegative autoimmune epilepsy and refractory status epilepticus given the prevalence of these conditions and lack of treatment options.</p><p><strong>Plain language summary: </strong>Epilepsy, characterized by repeated seizures often without a known cause, is initially treated with anti-seizure medications. However, about one third of patients do not become seizure-free with medication. Steroids, known for their anti-inflammatory effect, are now being trialed as a seizure treatment for difficult to control seizures because uncontrolled seizures are thought to cause inflammation in the brain. However, the use of steroids as a treatment for uncontrolled seizures has not been researched widely. This article reviews studies exploring the use of steroids in adult epilepsy and finds that there is some evidence that steroids may be able to improve seizures in some cases. Yet, further research is needed to better understand the effect and benefits of steroids in managing epilepsy.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143398575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"HMGB1 blood levels and neurological outcomes after traumatic brain injury: Insights from an exploratory study.","authors":"Irma Wati Ngadimon, Devi Mohan, Mohd Farooq Shaikh, Ching Soong Khoo, Hui Jan Tan, Yu Mey Lee, Nor Syazwani Chamhuri, Farizal Fadzil, Nursyazwana Zolkafli, Alina Arulsamy, Jegan Thanabalan, Angel Aledo-Serrano, Wing Loong Cheong","doi":"10.1002/epi4.70001","DOIUrl":"https://doi.org/10.1002/epi4.70001","url":null,"abstract":"<p><strong>Objective: </strong>Posttraumatic epilepsy (PTE) and cognitive impairment are severe complications following traumatic brain injury (TBI). Neuroinflammation likely contributes, but the role of specific inflammatory mediators requires clarification. High-mobility group box 1 (HMGB1) is an inflammatory cytokine released after brain injury that may be involved. This prospective longitudinal study investigated whether serum HMGB1 levels are associated with PTE development and cognitive decline over 12 months post-TBI.</p><p><strong>Methods: </strong>Serum samples were collected from 41 TBI patients, including mild and moderate to severe, at baseline, 6, and 12 months following TBI. HMGB1 was quantified by ELISA alongside interleukin-1β (IL-1β) and tumor necrosis factor (TNF). Cognitive assessments using validated neuropsychological assessments were performed at 6 and 12 months. The occurrence of PTE was also tracked.</p><p><strong>Results: </strong>HMGB1 remained elevated at 12 months post-TBI only in the subgroup (n = 6) that developed PTE (p = 0.026). PTE was associated with moderate to severe TBI cases. Higher HMGB1 levels at 12 months correlated with a greater decline in Addenbrooke's Cognitive Examination scores (p < 0.05). Reductions in HMGB1 (p < 0.05), IL-1β (p < 0.05) and TNF (p < 0.001) levels from 6 to 12 months correlated with improvements in cognitive scores. Multivariate regression analysis confirmed that HMGB1 level changes were independently associated with cognitive trajectory post-TBI (p = 0.003).</p><p><strong>Significance: </strong>The study highlights the importance of understanding the interactions between HMGB1 and inflammatory markers in posttraumatic neuroinflammatory responses. Targeting HMGB1 and associated markers may offer a promising strategy for managing chronic neuroinflammation and mitigating cognitive deficits in TBI patients, emphasizing the potential for targeted therapeutic interventions in this context.</p><p><strong>Plain language summary: </strong>This study examines how a protein called HMGB1 may contribute to epilepsy and cognitive deficits after traumatic brain injury (TBI). Patients with higher HMGB1 levels were more likely to develop epilepsy and experience significant cognitive decline within a year. Reducing HMGB1 and related inflammation was associated with better cognitive function and overall brain health. These findings suggest that HMGB1 could be a valuable marker and a potential target for treatments to prevent epilepsy and improve brain recovery after TBI.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143398621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}