Epilepsy & Behavior最新文献

{"title":"The roles of self-concept and experiential avoidance on post-traumatic growth in individuals with coexisting complex PTSD and epilepsy: The mediating role of ego strength","authors":"Zahra Salmanipour ,&nbsp;Sajede Moradi ,&nbsp;Zahra Ahmadi Shooli ,&nbsp;Nasrollah Mazraeh ,&nbsp;Siamak Khodarahimi ,&nbsp;Mojtaba Rahimian Bougar","doi":"10.1016/j.yebeh.2025.110433","DOIUrl":"10.1016/j.yebeh.2025.110433","url":null,"abstract":"<div><div>This research examined how self-concept and experiential avoidance influence posttraumatic growth (PTG) by considering the mediating effect of ego strength in individuals with epilepsy who have complex post-traumatic stress disorder (C-PTSD). The clinical sample for this study consisted of 137 patients with epilepsy who also had a history of C-PTSD and were selected using a convenience sampling method as part of a cross-sectional descriptive study design from Eqlid City, Iran. In this study, the data was collected using the Post-traumatic Growth Inventory (PTGI-21), the Personal Self-Concept Questionnaire (PSCQ-18), the Multidimensional Experiential Avoidance Questionnaire (MEAQ-62), and the Psychosocial Inventory of Ego Strengths (PIES-64). The results showed that self-concept and ego strength have significant positive direct effects on PTG. While experiential avoidance had a negative significant direct path coefficient with PTG. Furthermore, personal self-concept, experiential avoidance, and ego strengths combined accounted for 77% of the variance in PTG Moreover, ego strength significantly mediated the effect of self-concept and experiential avoidance on PTG. The results have shown a fitted SEM for the direct and indirect effects of self-concept and experiential avoidance on PTG through the mediating role of ego strength. These results have practical implications for psychotherapeutic interventions and community-based programs targeting epileptic patients with C-PTSD.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"168 ","pages":"Article 110433"},"PeriodicalIF":2.3,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143867935","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":"Restoration of blood brain barrier integrity post neurosurgical resection in drug resistant epilepsy","authors":"Claire Behan ,&nbsp;Chris Greene ,&nbsp;Nicole Hanley ,&nbsp;Carme Vila Salla ,&nbsp;Declan Brennan ,&nbsp;Ruairi Connolly ,&nbsp;Kieron Sweeney ,&nbsp;Donncha O’Brien ,&nbsp;Michael Farrell ,&nbsp;James Meaney ,&nbsp;David C. Henshall ,&nbsp;Matthew Campbell ,&nbsp;Colin P. Doherty","doi":"10.1016/j.yebeh.2025.110425","DOIUrl":"10.1016/j.yebeh.2025.110425","url":null,"abstract":"<div><div>Surgery for temporal lobe epilepsy (TLE) is a well-recognised therapy for drug resistant seizures which occur in more than 50 % of patients with TLE. Blood-brain barrier (BBB) dysfunction is commonly observed in resected brain tissue from patients with treatment resistant epilepsy however, no studies have documented the recovery of BBB function following surgery. We firstly prospectively performed dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) on seven patients scheduled for temporal lobe resections before and after resection. DCE-MRI revealed BBB dysfunction in frontal and temporal brain regions. At 6–24 months post-resection, there was a reduction in the percentage of brain volume with BBB dysfunction in 5/7 patients. We then retrospectively characterised resected brain tissue from 6 further TLE cases (total n = 13) by q-RT-PCR and immunohistochemistry which revealed region-specific changes in markers of BBB integrity and inflammation with changes in <em>CLDN12</em> and <em>TJP1/2</em> in the hippocampus and CSF1R pathway genes in cortical and hippocampal tissue. BBB dysfunction is a key component of the molecular disruption caused by seizures and in longstanding early onset chronic epilepsy that is refractory to treatment. Here, we demonstrate for the first time the rescue of BBB dysfunction by controlling seizures after surgery.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"168 ","pages":"Article 110425"},"PeriodicalIF":2.3,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143858992","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":"SUDEP in inherited metabolic epilepsies","authors":"Itay Tokatly Latzer ,&nbsp;Charity Adams ,&nbsp;Gardiner Lapham ,&nbsp;Jeffrey Buchhalter ,&nbsp;Phillip L. Pearl","doi":"10.1016/j.yebeh.2025.110422","DOIUrl":"10.1016/j.yebeh.2025.110422","url":null,"abstract":"<div><div>Inherited metabolic epilepsies (IMEs) have an increased susceptibility for early mortality, including sudden unexpected death in epilepsy (SUDEP), as they often manifest with frequent drug-resistant seizures, including bilateral tonic-clonic and nocturnal seizures. The metabolic defects inherent to their etiology predispose affected individuals to an additional risk of mortality as they can lead to brain injury, which can induce and be exacerbated by seizures, and to systemic conditions that decrease seizure-cessation and auto-resuscitation processes. The increased risk for SUDEP in IMEs mandates that special emphasis should be given to identifying them early and attempting to achieve seizure control by managing acute metabolic decompensations, anti-seizure medications, and targeted therapies when available. Providing education and support to individuals with IMEs and their families about SUDEP risk factors and prevention strategies is imperative. Despite the increased risk for SUDEP in IMEs, this topic remains understudied. As a proceeding of the 2024 Partners Against Mortality in Epilepsy (PAME) meeting and aiming to increase awareness, this Review describes the pathophysiological and clinical elements related to the heightened risk of SUDEP in IMEs and provides the perspective of a parent of a child with an IME who died from SUDEP. Calling for action, future research on epilepsy-related mortality in IMEs is required. Investigating this field may also yield insights into the general pathomechanisms of SUDEP.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"168 ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143851920","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":"Effects of temporal lobe seizures on visual recognition memory in a non-human primate model","authors":"Ellen Sproule ,&nbsp;Mark J. Connolly ,&nbsp;Arushi Dhillon ,&nbsp;Claire-Anne Gutekunst ,&nbsp;Robert E. Gross ,&nbsp;Annaelle Devergnas","doi":"10.1016/j.yebeh.2025.110428","DOIUrl":"10.1016/j.yebeh.2025.110428","url":null,"abstract":"<div><div>Patients with temporal lobe epilepsy frequently report memory impairment, which significantly impacts their quality of life. Several studies have demonstrated an association between temporal lobe epilepsy and memory dysfunction, though the underlying mechanisms remain unclear. This study investigates whether a penicillin-induced temporal lobe seizure model in non-human primates (NHPs) replicates the recognition deficits observed in epileptic patients. We recorded hippocampal activity in three NHPs during a visual paired comparison (VPC) task before and during seizures. The penicillin model induced multiple spontaneous, self-terminating temporal lobe seizures over 4–6 h. Seizures were induced after VPC training, and tasks were performed using an eye-tracking system while the animals were seated with head restraint. During the familiarization phase, novel objects were presented and later paired with a new object after a randomized delay (10 or 60 s). While task success rates did not differ between baseline and seizure conditions, we observed prolonged encoding durations. Further studies are needed to elucidate these findings, but this NHP model of temporal lobe epilepsy may provide critical insights into the relationship between epileptic activity and cognitive impairment.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"168 ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143850506","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":"A cross-cultural comparative study of attitudes towards people with epilepsy in Japan and Germany","authors":"Denny Kerkhoff ,&nbsp;Izumi Kuramochi ,&nbsp;Takayuki Iwayama ,&nbsp;Takafumi Shiganami ,&nbsp;Sayaka Kobayashi ,&nbsp;Margarete Pfäfflin ,&nbsp;Rupprecht Thorbecke ,&nbsp;Haruo Yoshimasu ,&nbsp;Axel Mayer ,&nbsp;Theodor W. May","doi":"10.1016/j.yebeh.2025.110424","DOIUrl":"10.1016/j.yebeh.2025.110424","url":null,"abstract":"<div><div>The Japanese version of the <u>S</u>cales of the <u>A</u>ttitudes towards <u>P</u>eople with <u>E</u>pilepsy (SAPE-J) has been developed based on the German SAPE to assess attitudes towards people with epilepsy (PWE). This study aims to verify the invariance of the measurement models between the SAPE and SAPE-J and investigate scale-level differences in attitudes towards PWE between Japan and Germany. We administered the SAPE-J to members of the Japanese public via an online survey (n = 985) and used previously collected data of 1001 participants from Germany for comparison. Sampling weights based on German and Japanese population characteristics were included to mitigate sampling bias. We conducted multigroup measurement invariance tests to compare the measurement models. After adding demographic characteristics, epilepsy knowledge and personal experiences with PWE as covariates, we investigated SAPE factor differences between the German and Japanese data while controlling for these covariates, and assessed group differences in how covariates impact SAPE factors. Results support partial strong measurement invariance and reveal that members of the Japanese public show higher Social Distance, Concerns, and Anger, and less Pity. Differences in attitudes and their associations to demographic characteristics, experiences and knowledge underscore the importance of considering the cultural context when developing strategies to reduce stigma and improve attitudes towards PWE. While increasing knowledge and promoting positive experiences are generally beneficial, tailored approaches that address specific cultural factors may be necessary to effectively reduce social distance and negative attitudes in different societies.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"168 ","pages":"Article 110424"},"PeriodicalIF":2.3,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143848583","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":"Anti-seizure medication is a minor causative factor in behavioral problems of children with tuberous sclerosis complex","authors":"H.M. Hulshof ,&nbsp;J.K. Heijstek ,&nbsp;W.M. Otte ,&nbsp;H. Bruining ,&nbsp;K.P.J. Braun ,&nbsp;F.E. Jansen","doi":"10.1016/j.yebeh.2025.110427","DOIUrl":"10.1016/j.yebeh.2025.110427","url":null,"abstract":"<div><h3>Introduction</h3><div>Behavioral problems in Tuberous Sclerosis Complex (TSC) are considered among the highest disease burden for both patients and caregivers, while the cause is often not clear. The current study aimed to explore the relationship between anti-seizure medication (ASM) and behavioral manifestations in children with TSC and epilepsy.</div></div><div><h3>Methods</h3><div>118 children referred to the University Medical Center Utrecht with definite TSC and epilepsy, aged 2–18 years, were included in a retrospective cohort study. Behavioral problems were categorized into: ‘any behavioral problem’, ‘aggressive behavior’, ‘attentional’, ‘eating’ and ‘sleeping’ problems, and ‘temper tantrums’. In a descriptive analysis, we studied the relationship between behavioral problems and exposure to specific ASMs compared to any other ASM. We looked in detail at manifestations occurring within ninety days after ASM initiation. For both time points we calculated Odds Ratios, comparing use of a specific ASM with use of any other ASMs. In addition, behavioral problems were related to disease characteristics with multivariable multinomial log-linear modeling after variable selection.</div></div><div><h3>Results</h3><div>During a mean follow-up of nine years, 616 ASM prescriptions were made. Behavioral problems were reported in 66% of patients, with temper tantrums showing the highest prevalence (53%). However, behavioral problems were low in association with a specific ASM. From the disease-inherent factors intellectual disability and autism spectrum disorder were significantly associated with attention and sleeping problems.</div></div><div><h3>Conclusion</h3><div>We did not find evidence for aggravation of behavioral problems with specific ASM use. In this complexity of symptoms of TSC the possible benefits of ASM, therefore, likely outweigh the risk of behavioral problems.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"168 ","pages":"Article 110427"},"PeriodicalIF":2.3,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143844679","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":"Efficacy and compliance of carbohydrate-restricted diets for treating drug-resistant epilepsy: A network meta-analysis of randomized controlled trials","authors":"Kun Zhu ,&nbsp;Qilin Peng ,&nbsp;Danfeng Cao ,&nbsp;Bo Xiao ,&nbsp;Honghao Zhou ,&nbsp;Boting Zhou ,&nbsp;Xiaoyuan Mao ,&nbsp;Zhaoqian Liu","doi":"10.1016/j.yebeh.2025.110434","DOIUrl":"10.1016/j.yebeh.2025.110434","url":null,"abstract":"<div><h3>Background</h3><div>Drug-resistant epilepsy (DRE) presents a significant clinical challenge since many patients fail to respond adequately to pharmacological treatments, resulting in persistent seizures and a great decline in quality of life. This highlights the urgent need for alternative or adjunctive therapeutic strategies. Carbohydrate-restricted diets have emerged as promising adjunctive treatments for epilepsy. However, while the efficacy of these diets has been well-established in pediatric populations, their effectiveness on adult DRE patients remains underexplored. This study aims to evaluate and compare the efficacy of various carbohydrate-restricted diets in treating DRE among all age groups, providing valuable insights into their potential clinical applications.</div></div><div><h3>Methods</h3><div>PRISMA guidelines for network <em>meta</em>-analysis were followed. Randomized controlled trials (RCTs) comparing the efficacy of different carbohydrate-restricted diets in DRE patients, and published in PubMed, Embase, Cochrane, and Web of Science up to 22 December 2023 were screened. The primary outcomes were &gt;50 %, &gt;90 % seizure frequency reduction from the baseline and seizure freedom. Secondary outcomes included compliance and adverse events. Random-effects models with a Bayesian-based approach were employed to estimate between-group comparisons, with results presented as odds ratios (OR) and 95 % credible intervals (CrI).</div></div><div><h3>Results</h3><div>A total of 17 RCTs involving 1468 DRE patients were included. The diets evaluated were the ketogenic diet (KD), modified Atkins diet (MAD), and low glycemic index treatment (LGIT). For &gt;50 % and &gt;90 % seizure reduction from baseline, all three diets resulted in significant efficacy compared to the normal diet. Notably, MAD was the only diet that demonstrated a statistically significant association with seizure freedom (OR 7.36, 95 % CrI 2.21–60.36), compared to the normal diet, while its lower compliance (OR 0.39, 95 % CrI 0.18–0.76) was likely influenced by the inclusion of adult subjects. Adverse effects were reported across all three diets with similar profiles, highlighting the need for individualized monitoring.</div></div><div><h3>Conclusions</h3><div>This <em>meta</em>-analysis indicated that in RCTs, the included diet therapies were overall equivalent in efficacy and side effects, with the MAD showing a higher chance of seizure freedom. Compliance was lower with the MAD, but this was likely due to a preponderance of adult studies using this therapy.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"168 ","pages":"Article 110434"},"PeriodicalIF":2.3,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143844677","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 prevalence of comorbidities in people with psychogenic non-epileptic seizures (2013–2023)","authors":"Binx Yezhe Lin ,&nbsp;Lisa Gong ,&nbsp;Yifan Li ,&nbsp;Hillary Samples ,&nbsp;Greta A. Bushnell ,&nbsp;Fábio A. Nascimento ,&nbsp;Anita S. Kablinger ,&nbsp;Robert L. Trestman ,&nbsp;Kevin Young Xu","doi":"10.1016/j.yebeh.2025.110420","DOIUrl":"10.1016/j.yebeh.2025.110420","url":null,"abstract":"<div><h3>Objective</h3><div>To better understand medical comorbidity in people with psychogenic non-epileptic seizures (PNES), we used real-world electronic health records (EHR) to evaluate rates of co-occurring diagnoses and psychotropic prescribing in people receiving their first diagnosis of PNES.</div></div><div><h3>Methods</h3><div>We conducted a descriptive analysis of the TriNetX databases, a federated network of &gt;80 health care organizations with access to electronic health records and linked insurance claims. We identified 25,858 individuals with a new PNES diagnosis (ICD-10-CM F44.5) and  ≥5 years of EHR or claims data prior to the first PNES encounter. We subsequently evaluated baseline medical comorbidities and outpatient psychotropic prescriptions during the 5 year lookback period preceding the first PNES encounter.</div></div><div><h3>Results</h3><div>In the 5 years before the first PNES encounter, &gt;50% of patients with PNES had encounters where mood-related disorder, anxiety-related disorder, or epilepsy was coded. Past 5-year injuries or poisonings (46.0%), benzodiazepine or Z drug prescriptions (63.5%), and opioid prescriptions (48.6%) were particularly common. Approximately one-third of the sample had past 5-year pain-related diagnoses. Prior diagnoses of PTSD (17.0%), borderline personality disorder (&lt;5%), intellectual disability (&lt;5%), and autism-spectrum disorders (&lt;5%) were comparatively less common.</div></div><div><h3>Conclusion</h3><div>The needs of people with PNES extend beyond psychiatric management. Clinicians should consider the impact of injuries, pain-related diagnoses, and opioid and benzodiazepine exposure in differential diagnosis.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"168 ","pages":"Article 110420"},"PeriodicalIF":2.3,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143844678","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":"Explicit and implicit timing in mesial temporal lobe epilepsy patients","authors":"Annika Hellweg ,&nbsp;Michael Schwarz ,&nbsp;Katrin Walther ,&nbsp;Hajo Hamer ,&nbsp;Antonino Visalli ,&nbsp;Giovanna Mioni","doi":"10.1016/j.yebeh.2025.110358","DOIUrl":"10.1016/j.yebeh.2025.110358","url":null,"abstract":"<div><h3>Objectives</h3><div>The present study investigates the explicit and implicit timing abilities of patients with mesial temporal lobe epilepsy (MTLE). Based on previous studies, it was hypothesized that timing abilities were decreased in MTLE patients.</div></div><div><h3>Methods</h3><div>The performance of 21 MTLE patients and 21 neurologically healthy probands was tested on two separate tasks. The time bisection task was used to investigate explicit timing and the foreperiod task to test implicit timing.</div></div><div><h3>Results</h3><div>For the time bisection task, less precise temporal judgements were found in the patient group compared to the control group. This was indicated by a flatter psychophysical curve in the patients compared to controls. Moreover, participants did not differ in term of precision, but patients were more variable than controls. There was no statistical difference between the performance of the control and the patient group in the implicit timing task. Both groups demonstrated the foreperiod effect, meaning that the RTs of the participants became shorter with longer durations.</div></div><div><h3>Conclusions</h3><div>MTLE patients showed less precise temporal judgments in explicit timing, while their implicit timing was largely preserved. This finding suggests that explicit time perception should be routinely investigated in MTLE patients.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"168 ","pages":"Article 110358"},"PeriodicalIF":2.3,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143838880","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":"Transcriptomic analyses of human brains with Alzheimer’s disease identified dysregulated epilepsy-causing genes","authors":"Abdallah M. Eteleeb ,&nbsp;Suélen Santos Alves ,&nbsp;Stephanie Buss ,&nbsp;Mouhsin Shafi ,&nbsp;Daniel Press ,&nbsp;Norberto Garcia-Cairasco ,&nbsp;Bruno A. Benitez","doi":"10.1016/j.yebeh.2025.110421","DOIUrl":"10.1016/j.yebeh.2025.110421","url":null,"abstract":"<div><h3>Background &amp; Objective</h3><div>Alzheimer’s Disease (AD) patients at multiple stages of disease progression have a high prevalence of seizures. However, whether AD and epilepsy share pathophysiological changes remains poorly defined. In this study, we leveraged high-throughput transcriptomic data from sporadic AD cases at different stages of cognitive impairment across multiple independent cohorts and brain regions to examine the role of epilepsy-causing genes.</div></div><div><h3>Methods</h3><div>Epilepsy-causing genes were manually curated, and their expression levels were analyzed across bulk transcriptomic data from three AD cohorts and three brain regions. RNA-seq data from sporadic AD and control cases from the Knight ADRC, MSBB, and ROSMAP cohorts were processed and analyzed under the same analytical pipeline. An integrative clustering approach employing machine learning and multi-omics data was employed to identify molecularly defined profiles with different cognitive scores.</div></div><div><h3>Results</h3><div>We found several epilepsy-associated genes/pathways significantly dysregulated in a group of AD patients with more severe cognitive impairment. We observed 15 genes consistently downregulated across the three cohorts, including sodium and potassium channels genes, suggesting that these genes play fundamental roles in cognitive function or AD progression. Notably, we found 25 of these genes dysregulated in earlier stages of AD and become worse with AD progression.</div></div><div><h3>Conclusion</h3><div>Our findings revealed that epilepsy-causing genes showed changes in the early and late stages of AD progression, suggesting that they might be playing a role in AD progression. We can not establish directionality or cause-effect with our findings. However, changes in the epilepsy-causing genes might underlie the presence of seizures in AD patients, which might be present before or concurrently with the initial stages of AD.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"168 ","pages":"Article 110421"},"PeriodicalIF":2.3,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143844676","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}