Epilepsy & Behavior最新文献

{"title":"Pharmacotherapeutic strategies for drug-resistant epilepsy in children.","authors":"Stéphane Auvin, Nicola Specchio","doi":"10.1016/j.yebeh.2024.110139","DOIUrl":"https://doi.org/10.1016/j.yebeh.2024.110139","url":null,"abstract":"<p><p>Drug resistance is defined as the failure of adequate trials of two tolerated and appropriately chosen antiseizure medications to achieve sustained seizure freedom. In case of uncontrolled seizures, pseudo-drug-resistance (poor compliance, a worsening effect of an antiseizure medication, a diagnosis of psychogenic non-epileptic seizure) should be first ruled out in case of pediatric epilepsies. This paper discusses the process of choosing antiseizure medication and the concepts of rationale polytherapy and precision medicine. In drug-resistant epilepsy, when curative surgery is not feasible, the aim of the treatment is focused on the improvement of quality of life rather than on seizure count. In recent years, despite an increase in available antiseizure medications, the incidence of drug-resistant epilepsy has not changed. Precision medicine may offer in rare epilepsies a mechanism-driven treatment, but it is still unclear if this will end up in an improvement of efficacy in drug-resistant epilepsies. Gene therapy with antisense oligonucleotides or Adeno-associated Virus (AAV) is transitioning from the experimental side to the first human trial. It may modify the natural history of selected epileptic syndromes.</p>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603943","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":"Risk of ADHD in children with childhood absence epilepsy versus controls: A population-based study.","authors":"Saskia L Vanderwiel, Brandon Jones, Katherine C Nickels, Lily C Wong-Kisiel, Anthony Fine, Jay Mandrekar, Elaine C Wirrell","doi":"10.1016/j.yebeh.2024.110143","DOIUrl":"https://doi.org/10.1016/j.yebeh.2024.110143","url":null,"abstract":"<p><strong>Introduction: </strong>Children with childhood absence epilepsy (CAE) are deemed to be at higher risk of attention deficit hyperactivity disorder (ADHD), however the magnitude of that risk has not been assessed in a population-based study.</p><p><strong>Methods: </strong>The Rochester Epidemiology Project database was used to identify children with a new diagnosis of CAE while resident in Olmsted County, MN between 1980-2018. For each case, four age- and sex-matched controls without epilepsy were identified. Records of cases and controls screening positive for ADHD were reviewed to confirm this diagnosis. Those with comorbid ADHD and CAE were further assessed to determine if the ADHD diagnosis preceded or followed the epilepsy diagnosis, as well as the impact of ADHD treatment on possible seizure exacerbation and long-term epilepsy course.</p><p><strong>Results: </strong>Forty-one cases of CAE were identified and matched to 164 controls. ADHD was diagnosed in 17 children (41.5 %) with CAE and 12 controls (7.3 %) (p < 0.001). Compared to those without epilepsy, the diagnosis of ADHD in CAE was more likely to be made by a mental health professional than a primary care provider (p = 0.047). ADHD in CAE typically followed the diagnosis of CAE and in 7/17 cases, was diagnosed after remission of epilepsy and discontinuation of antiseizure medication. There was no difference in the proportion of cases or controls treated with ADHD medication (16/17 cases and 12/12 controls). Both groups had high likelihood of favorable response to ADHD medication and no child with CAE experienced seizure exacerbation with ADHD treatment.</p><p><strong>Conclusions: </strong>ADHD was 5.7-fold more common in CAE then in children without epilepsy in our population-based study. Treatment with stimulants is highly effective and not associated with worsening of seizures. Primary care providers must be vigilant to carefully screen this population for ADHD.</p>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142603944","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":"Misinformation on first aid for seizures communicated through the fastest growing social media platform: A cross-sectional study of TikTok content","authors":"Alexei A. Birkun","doi":"10.1016/j.yebeh.2024.110116","DOIUrl":"10.1016/j.yebeh.2024.110116","url":null,"abstract":"<div><h3>Introduction</h3><div>Social media platforms have significant potential to enhance public knowledge on how to respond to generalised seizures. Among the platforms, TikTok emerges as a standout performer, demonstrating exceptional user engagement.</div></div><div><h3>Study objective</h3><div>This study aimed to assess the quality of content on first aid for seizures posted on TikTok.</div></div><div><h3>Methods</h3><div>TikTok videos providing instructions on first aid for generalised seizures and having at least 100,000 views were analysed for completeness and correctness of the advice using a 21-item checklist. Any misleading recommendations suggesting inappropriate actions were collected from the videos and users’ comments on the videos.</div></div><div><h3>Results</h3><div>Nineteen eligible videos had a total of 19,502,200 views. The videos frequently omitted key guidelines-concordant instructions on first aid for seizures, in particular, to lay the person down to prevent falling (missed in 84.2% of the videos), avoid moving the person unless they are in danger (89.5%), check the person’s breathing once the seizure has ended (89.5%) and commence cardiopulmonary resuscitation if the person remains unresponsive and not breathing normally (94.7%). Nine videos (47.4%) contained misleading instructions, most commonly to put the person on their side or otherwise move them during the seizure. Multiple comments to the videos advocated futile and dangerous actions, for instance, putting objects into the person’s mouth, restraining, or hitting the person.</div></div><div><h3>Conclusion</h3><div>TikTok videos convey information on first aid for seizures to multi-million audiences concurrently propagating incomplete, inaccurate and potentially harmful non-evidence-based advice. Urgent research and regulatory efforts are needed to develop effective strategies to combat the misinformation spread.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592984","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":"Perceptions in the experience of transition from pediatric to adult care of patients with childhood-onset epilepsy in Japan","authors":"Takumi Sasaki ,&nbsp;Wataru Irie ,&nbsp;Akiko Sugahara ,&nbsp;Kazutaka Jin ,&nbsp;Nobukazu Nakasato ,&nbsp;Hitoshi Shiwaku","doi":"10.1016/j.yebeh.2024.110119","DOIUrl":"10.1016/j.yebeh.2024.110119","url":null,"abstract":"<div><h3>Objective</h3><div>This study aimed to clarify perceptions of the transition from pediatric to adult care for patients with childhood-onset epilepsy in Japan.</div></div><div><h3>Methods</h3><div>A qualitative descriptive study design was used. Semi-structured interviews were conducted with patients with childhood-onset epilepsy who had transitioned to adult care attending a tertiary hospital’s adult outpatient care unit specializing in treating epilepsy. Data were analyzed using content analysis to extract perceptions regarding the transition from pediatric to adult care.</div></div><div><h3>Result</h3><div>Six male and seven female patients between the ages of 18 and 49 years participated in the study. Seventeen perception categories regarding the experience of transitioning from pediatric to adult care were identified: {I followed a specific transfer process}, {I want to transition to adult care}, {I want to remain in pediatrics},{I have noticed something after transitioning to adult care}, {I recall trust in pediatricians}, {increased motivation for self-management}, and {I want detailed explanations about illness}.</div></div><div><h3>Conclusions</h3><div>The patients wanted to transition to adult medicine, but were passive, waiting for their physicians to suggest the transition. Furthermore, their perceptions of their own self-care varied. Pediatric healthcare providers should discuss and support the decision to transition from pediatric to adult care and provide information to help patients with childhood-onset epilepsy accept their future and understand their self-management requirements. These patients may become independent through the transition to adult care, and collaboration between pediatric and adult medicine is important to pass the responsibility of self-support to medical providers in adult care.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592987","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":"Characterisation of psychological and neurocognitive processes accompanying functional seizures","authors":"Lana Higson ,&nbsp;Terence J O’Brien ,&nbsp;Zhibin Chen ,&nbsp;Genevieve Rayner ,&nbsp;Rubina Alpitsis ,&nbsp;Toby Winton-Brown","doi":"10.1016/j.yebeh.2024.110117","DOIUrl":"10.1016/j.yebeh.2024.110117","url":null,"abstract":"<div><h3>Objectives</h3><div>To examine the relationship between clinical, psychological, and cognitive characteristics of adults with functional seizures. <strong>Methods:</strong> This study describes baseline characteristics of one-hundred and seven participants with a documented diagnosis of functional seizures recruited to the Re-PROGRAM randomised controlled trial. Participants completed a semi-structured interview, neuropsychological assessment, and questionnaire measures via Telehealth. <strong>Results:</strong> Participants reported low levels of trust in body sensations, high levels of negative ruminative thinking, dissociation, somatisation, anxiety, depression, severe levels of functional impairment, and poor quality of life. At a group level, they had normal neurocognitive function, including mental control, processing speed, attention, and executive function. Anxiety (73%), depression (68%), post-traumatic stress disorder (49%), migraine (63%) and chronic pain (52%) were common comorbidities. Forty-three percent reported a family history of dementia. Somatic symptoms were associated with depression, anxiety, dissociation, ruminative negative thinking, and lower scores on the ’Not-distracting’ interoception scale. Poorer psychosocial functioning was associated with depression and dissociation. Reduced mental quality of life was associated with higher levels of depression, anxiety, dissociation, ruminative negative thinking, and lower scores on the ‘Trusting’ interoception scale. There were no associations between the clinical or psychological variables and seizure frequency or seizure classification. Neither cognitive impairment nor failure on effort testing were associated with the clinical or psychological factors, quality of life or psychosocial functioning. <strong>Significance:</strong> This study highlights the burden of psychiatric and physical comorbidity; and the relationship between psychological factors and functional impairment in a large cohort of patients with functional seizures despite normal cognitive function.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592985","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":"Repeated acoustic stimulation (audiogenic kindling) induces estrous arrest in the Wistar audiogenic Rat (WAR) strain. A model of pseudopregnancy?","authors":"Matheus Credendio Eiras ,&nbsp;Carolina Gennari Verruma ,&nbsp;Artur Fernandes ,&nbsp;Ester Silveira Ramos ,&nbsp;Cristiana Libardi Miranda Furtado ,&nbsp;Norberto Garcia-Cairasco ,&nbsp;Rosana Maria dos Reis","doi":"10.1016/j.yebeh.2024.110125","DOIUrl":"10.1016/j.yebeh.2024.110125","url":null,"abstract":"<div><h3>Background</h3><div>Epilepsy is a chronic disorder characterized by a predisposition to epileptic seizures, affecting more than 50 million people worldwide.</div></div><div><h3>Methods</h3><div>Wistar and Wistar Audiogenic Rats (WAR) females were evaluated regarding estrous cycle and seizures episodes during repeated (kindling) acoustic stimulation at different stages of the estrous cycle.</div></div><div><h3>Results</h3><div>Acoustic stimulation did not affect the estrous cycle of most Wistar females in either control (91.6 %) or kindled (70.0 %) groups. They also had no seizures episodes. In WAR females, most of the control group (91.6 %) showed regular cycles during acoustic stimulation. In the kindling group, all females showed irregular cycles during acoustic stimulation with diestrus arrest for several days (11.8 ± 1.46 days) and 12 of them (92.3 %) showed, at least, four mesencephalic seizure behaviors during the acoustic stimulation (1 ≤ cSI ≤ 8). In this group, 7 females (53.84 %) also showed limbic seizures (2 ≤ LI ≤ 4). When WAR females were stratified by estrous cycle stage, the group that started the acoustic stimulation during estrus had five females (45.4 %) with diestrus arrest for several days (11.4 ± 0.89 days) and, eight females (72.7 %) exhibited, at least, two seizure behaviors (1 &lt; cSI &lt; 8). When acoustic stimulation was started in the metestrus stage, six females (54.5 %) exhibited diestrus arrest for several days (10.5 ± 3.27 days). In the metestrus group, ten females (90.9 %) presented five or six seizure episodes (1 &lt; cSI &lt; 8).</div></div><div><h3>Conclusion</h3><div>Our results showed that chronic audiogenic seizures (audiogenic kindling) affect the estrous cycle of WAR females, resulting in a consistent diestrus arrest for 10–12 days, which is consistent with the phenomenon of pseudopregnancy.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592988","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":"Factors influencing the adequacy of determining hemispheric language lateralization in presurgical epilepsy patients using functional transcranial Doppler sonography (fTCD)","authors":"Nadine Conradi ,&nbsp;Marion Hug ,&nbsp;Malina Enger ,&nbsp;Nina Merkel ,&nbsp;Annika Suess ,&nbsp;Catrin Mann ,&nbsp;Felix Rosenow ,&nbsp;Adam Strzelczyk","doi":"10.1016/j.yebeh.2024.110113","DOIUrl":"10.1016/j.yebeh.2024.110113","url":null,"abstract":"<div><div>As the adequacy of determining hemispheric language lateralization (HLL) is of special importance for the planning of epilepsy surgery, this study aimed to identify predictive factors for receiving inconclusive HLL results using functional transcranial Doppler sonography (fTCD).</div><div>Data from 495 epilepsy patients who received fTCD in a standardized fashion was analyzed retrospectively. HLL was left-sided in 324 patients (65.5 %), right-sided in 76 (15.4 %), and inconclusive in 95 (19.2 %). Univariate logistic regression analyses revealed significant positive associations between inconclusive HLL results and a multiregional localization of epilepsy. Significant negative associations with higher educational qualification, more years of education, and better letter verbal fluency were found. In multiple logistic regression analyses, a multiregional localization of epilepsy (OR = 2.74, <em>p</em> &lt; 0.001) and years of education (OR = 0.86, <em>p</em> &lt; 0.001) remained independent predictors. A cut-off value of 10.77 years of education determined by discriminant function analyses is provided.</div><div>Our findings indicate that the adequacy of determining HLL using fTCD is highly dependent on the extension of the epileptogenic lesion and the patients’ years of education. We therefore recommend not to use the same paradigm for all patients, but to adapt the selection of adequate test materials to their cognitive abilities.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592986","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":"Evolving treatment strategies for early-life seizures in Tuberous Sclerosis Complex: A review and treatment algorithm","authors":"Debopam Samanta","doi":"10.1016/j.yebeh.2024.110123","DOIUrl":"10.1016/j.yebeh.2024.110123","url":null,"abstract":"<div><div>Tuberous sclerosis Complex (TSC) is a genetic disorder characterized by multisystem involvement, with epilepsy affecting 80–90% of patients, often beginning in infancy. Early-life seizures in TSC are associated with poor neurodevelopmental outcomes, underscoring the importance of timely and effective management. This review explores the evolving treatment landscape for TSC-associated seizures in young children, focusing on three recently approved or license-expanded therapies: vigabatrin, everolimus, and cannabidiol. The efficacy and safety profiles of these treatments are examined based on clinical trials and real-world evidence, with a focus on their use in treating seizures in young children. The preemptive use of vigabatrin in clinical studies has also been carefully reviewed. A treatment algorithm is proposed, emphasizing early diagnosis, prompt initiation of appropriate therapy, and a stepwise approach to managing both infantile spasms and focal seizures. The algorithm incorporates these newer therapies alongside traditional antiseizure medications and non-pharmacological approaches. Challenges in optimizing treatment strategies, minimizing side effects, and improving long-term outcomes are discussed. This review aims to guide clinicians in navigating the complex landscape of early-life seizures associated with TSC, ultimately striving for improved seizure control and better developmental outcomes in this vulnerable population.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142564074","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":"Tonic and tonic-clonic seizures in the first year of life: Insights from electrographic features","authors":"Marta Conti ,&nbsp;Mattia Mercier ,&nbsp;Domenico Serino ,&nbsp;Ludovica M. Piscitello ,&nbsp;Marta E. Santarone ,&nbsp;Federico Vigevano ,&nbsp;Nicola Specchio ,&nbsp;Lucia Fusco","doi":"10.1016/j.yebeh.2024.110120","DOIUrl":"10.1016/j.yebeh.2024.110120","url":null,"abstract":"<div><h3>Objective</h3><div>We studied the electrographic features of tonic seizures (TS) with bilateral contraction and tonic-clonic seizures (TCS) without focal signs occurring during the first year of life to evaluate if there is a correlation with outcome.</div></div><div><h3>Methods</h3><div>We retrospectively reviewed patients aged 1 to 12 months with at least one TS or TCS recorded with video-EEG between 2011 and 2021 in our Epilepsy Monitoring Unit. We analyzed the following electrographic features: seizure duration, presence and duration of focal ictal EEG onset, and post-ictal generalized EEG suppression (PGES). Among clinical variables, we collected age at epilepsy onset, age at TS and TCS recording, response to anti-seizure medications, genetic and neuroimaging findings, epileptic syndrome classification.</div></div><div><h3>Results</h3><div>Overall, we recorded 2577 seizures in 1769 patients. One-hundred-twenty-eight seizures (5%) were clinically labeled either as TS or TCS in 41 patients (2%). Out of 41 patients, 17 (41%) presented with TS, and 24 (59%) with TCS. Thirteen patients (32%) had a Self-limited Epilepsy, and 28 (68%) a Developmental and Epileptic Encephalopathy (DEE). Seventy-two percent of genetically tested patients had pathogenic gene variants. None had structural epilepsy.</div><div>Mean age at epilepsy onset was 4.48 months (range 3 days-12 months). Age at seizure onset was earlier in patients presenting with TS <em>versus</em> patients presenting with TCS (2.31 months <em>vs</em>. 6.01 months; p = 0.001) and in DEEs <em>versus</em> Self-limited Epilepsies (3.23 months <em>vs</em>. 7.16 months; p = 0.001). TS were exclusively present in DEEs (p = 0.001), and TCS were recorded in both DEEs and Self-limited Epilepsies. Focal ictal EEG onset was evident in 92 % of TCS, and in none of TS. Generalized ictal EEG onset was documented in 100 % of TS, and in 8 % of TCS. Focal ictal EEG onset occurred more frequently (100 % <em>vs</em>. 32 %; p = 0.000) and was significantly longer (30.61 s <em>vs</em>. 16.22 s; p = 0.020) in Self-limited Epilepsies <em>versus</em> DEEs. PGES was observed in 18 out of 41 (44 %) and was more frequent in Self-limited Epilepsies (p = 0.026).</div></div><div><h3>Significance</h3><div>This study provides insights into the electroclinical features of TS and TCS in infants that may help distinguish Self-limited Epilepsies from DEEs soon after epilepsy onset.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142564082","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":"Genetic association between epilepsy and gliomas: Insights from Mendelian randomization and single-cell transcriptomic analyses","authors":"Liguo Ye ,&nbsp;Hao Xing ,&nbsp;Yu Wang,&nbsp;Wenbin Ma","doi":"10.1016/j.yebeh.2024.110114","DOIUrl":"10.1016/j.yebeh.2024.110114","url":null,"abstract":"<div><h3>Background</h3><div>Seizures are prevalent in glioma patients, especially in those with low-grade gliomas. The interaction between gliomas and epilepsy involves complex biological mechanisms that are not fully understood.</div></div><div><h3>Methods</h3><div>We collected Genome-Wide Association Study data for epilepsy and gliomas, performed differential expression analysis, and conducted Gene Ontology (GO) enrichment analysis on the identified genes. Single-cell RNA sequencing data (scRNA-seq) from GSE221534 dataset in Gene Expression Omnibus (GEO) were used to analyze cell–cell interactions within glioma samples from patients with and without epilepsy.</div></div><div><h3>Results</h3><div>Mendelian Randomization (MR) analysis revealed significant associations between genetic variants related to epilepsy and glioma risk, suggesting a potential causal relationship, especially in astrocytomas. Differential expression analysis identified epilepsy-related genes that were significantly upregulated in astrocytoma tissues compared to normal brain tissues. GO enrichment analysis indicated that these genes are involved in critical biological processes such as neurogenesis and cellular signaling. The scRNA-seq analysis showed, compared to non-epileptic samples, glioma stem cells, microglia, and NK cells are increased in the core regions of astrocytomas in epileptic patients. Additionally, intercellular communication between tumor cells and other non-tumor cells is markedly enhanced in astrocytoma samples from epileptic patients.</div></div><div><h3>Conclusion</h3><div>This study provides evidence of a genetic association between epilepsy and gliomas and elucidates the biological mechanisms through which epilepsy may influence glioma progression.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142564076","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}