Epilepsy & Behavior最新文献

{"title":"Ligand-receptor interactions: A key to understanding microglia and astrocyte roles in epilepsy.","authors":"Peravina Thergarajan, Terence J O'Brien, Nigel C Jones, Idrish Ali","doi":"10.1016/j.yebeh.2024.110219","DOIUrl":"https://doi.org/10.1016/j.yebeh.2024.110219","url":null,"abstract":"<p><p>Epilepsy continues to pose significant social and economic challenges on a global scale. Existing therapeutic approaches predominantly revolve around neurocentric mechanisms, and fail to control seizures in approximately one-third of patients. This underscores the pressing need for novel and complementary treatment approaches to address this gap. An increasing body of literature points to a role for glial cells, including microglia and astrocytes, in the pathogenesis of epilepsy. Notably, microglial cells, which serve as pivotal inflammatory mediators within the epileptic brain, have received increasing attention over recent years. These immune cells react to epileptogenic insults, regulate neuronal processes, and play diverse roles during the process of epilepsy development. Additionally, astrocytes, another integral non-neuronal brain cells, have garnered increasing recognition for their dynamic contributions to the pathophysiology of epilepsy. Their complex interactions with neurons and other glial cells involve modulating synaptic activity and neuronal excitability, thereby influencing the aberrant networks formed during epileptogenesis. This review explores the alterations in microglial and astrocytic function and their mechanisms of communication following an epileptogenic insult, examining their contribution to epilepsy development. By comprehensively studying these mechanisms, potential avenues could emerge for refining therapeutic strategies and ameliorating the impact of this complex neurological disease.</p>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"163 ","pages":"110219"},"PeriodicalIF":2.3,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853404","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":"Effect of antiepileptic drug monotherapy on endogenous sex hormonal profile in men and women with epilepsy.","authors":"Neha Kanojia, Debleena Guin, Nitin Machahary, Sarita Thakran, Samiksha Kukal, Jyotika Thakur, Biswajit Panda, Priyanka Singh, Ankit Srivastava, Pooja Singh, Sandeep Grover, Anju Singh, Viren Sardana, Luciano Saso, Shrikant Kukreti, Ritushree Kukreti","doi":"10.1016/j.yebeh.2024.110220","DOIUrl":"https://doi.org/10.1016/j.yebeh.2024.110220","url":null,"abstract":"<p><strong>Objective: </strong>To assess the alterations of endogenous sex hormone profiles in patients with epilepsy (PWE) on different antiepileptic drug (AED) monotherapies compared to healthy controls and drug naïve PWE (DNPWE).</p><p><strong>Methods: </strong>Four databases MEDLINE, EMBASE, SCOPUS, and CENTRAL were searched for analytical observational/intervention studies on the assessment of endogenous sex hormones in PWE compared to healthy controls and DNPWE. Two researchers reviewed the title/abstract, and full-text articles for the selection of the studies independently. Extracted data included information on study details, participant demographics, interventions, method of assessment and study results. The study outcomes were used to calculate the standard mean differences (SMD) and 95% confidence interval (CI) as effect size for assessing differences in the endogenous sex hormone levels between the treatment group and control/DNPWE.</p><p><strong>Results: </strong>Among 5888 publications retrieved, 33 studies were included. Enzyme-inducing AEDs (EIAEDs) such as phenytoin (men: SMD = 1.36; 95%CI = 1.06,1.66) and carbamazepine (men: SMD = 0.71; 95%CI = 0.39, 1.04 and women: SMD = 0.54; 95%CI = 0.25, 0.83) and weak-EIAED oxcarbazepine (men: SMD = 0.62; 95%CI = 0.26,0.99) increased the SHBG levels in PWE compared to control. The same trend was observed when comparing it to DNPWE. No significant changes in SHBG were observed for non-EIAEDs valproic acid, lamotrigine and levetiracetam in men. Lamotrigine significantly reduced SHBG in women (SMD = -0.50; 95%CI = -0.85, -0.16) compared to controls. Testosterone (T) levels were significantly reduced for both carbamazepine (SMD = -0.39; 95%CI = -0.67, -0.11) and valproic acid (SMD = -0.48; 95%CI = -0.74, -0.21) treated men compared to control.</p><p><strong>Significance: </strong>Our findings emphasize the importance of screening the endogenous sex hormonal profile in PWE on AED monotherapies to evaluate the associated endocrine-related perturbations which may impact reproductive functions.</p>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"163 ","pages":"110220"},"PeriodicalIF":2.3,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853376","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":"Early life stress influences epilepsy outcomes in mice.","authors":"Emanuel M Coleman, Maya White, Pantelis Antonoudiou, Grant L Weiss, Garrett Scarpa, Bradly Stone, Jamie Maguire","doi":"10.1016/j.yebeh.2024.110217","DOIUrl":"https://doi.org/10.1016/j.yebeh.2024.110217","url":null,"abstract":"<p><p>Stress is a common seizure trigger that has been implicated in worsening epilepsy outcomes, which encompasses psychiatric and cognitive comorbidities and sudden unexpected death in epilepsy (SUDEP) risk. The neuroendocrine response to stress is mediated by the hypothalamic-pituitary-adrenal (HPA) axis and HPA axis dysfunction worsens epilepsy outcomes, increasing seizure burden, behavioral comorbidities, and risk for SUDEP in mice. Early life stress (ELS) reprograms the HPA axis into adulthood, impacting both the basal and stress-induced activity. Thus, we propose that ELS may influence epilepsy outcomes by influencing the function of the HPA axis. To test this hypothesis, we utilized the maternal separation paradigm and examined the impact on seizure susceptibility. We show that ELS exerts a sex dependent effect on seizure susceptibility in response to acute administration of the chemoconvulsant, kainic acid, which is associated with an altered relationship between seizure activity and HPA axis function. To further examine the impact of ELS on epilepsy outcomes, we utilized the intrahippocampal kainic acid model of chronic epilepsy in mice previously exposed to maternal separation. We find that the relationship between corticosterone levels and the extent of epileptiform activity is altered in mice subjected to ELS. We demonstrate that ELS impacts behavioral outcomes associated with chronic epilepsy in a sex-dependent manner, with females being more affected. We also observe reduced mortality (presumed SUDEP) in female mice subjected to ELS, consistent with previous findings suggesting a role for HPA axis dysfunction in SUDEP risk. These data demonstrate for the first time that ELS influences epilepsy outcomes and suggest that previous life experiences may impact the trajectory of epilepsy.</p>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"163 ","pages":"110217"},"PeriodicalIF":2.3,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142846247","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":"Understanding teachers' perspectives on students with epilepsy in Germany: A survey examining knowledge, experience, and affective, cognitive, and behavioral attitudes to inform teacher training.","authors":"Pawel R Kulawiak, Nadine Poltz, Jannis Bosch, Mona Dreesmann","doi":"10.1016/j.yebeh.2024.110157","DOIUrl":"https://doi.org/10.1016/j.yebeh.2024.110157","url":null,"abstract":"<p><p>The comprehensive teacher survey (N = 210 teachers), conducted in Germany, focused on a broad range of student needs (medical, instructional, and emotional), and captured teachers' knowledge about epilepsy and experiences with students with epilepsy (SWE), alongside multiple attitudes towards SWE. Results reveal gaps in teachers' understanding of appropriate responses to seizures, exemplified by 33 % believing an object should be put into the mouth during a seizure. Misconceptions about the risks of physical activity for SWE are prevalent among teachers (6.3-10.6 %). Misbeliefs and misconceptions about learning difficulties and deviant behavior of SWE are rare (0.5-3.4 %) and only a small subset of teachers (2.9 %) recommends special education schooling for SWE. The results highlight mixed feelings and thoughts (affective and cognitive attitudes), including negative emotions (45.5 %-66.7 %) and insecurities (25.1-50.5 %) about supervising SWE during activities. Some teachers (7.7-20.4 %) are inclined, with safety concerns in mind, to exclude SWE from activities (behavioral intention). Not all teachers exhibit sufficient confidence in seizure first aid (10.5-31.4 %), seizure-specific classroom management (27.3-47.8 %), and emotional support skills (10-28 %). These different attitude traits were identified through exploratory factor analysis. Knowledge about epilepsy and experiences with SWE are linked to favorable attitudes towards SWE, with correlations ranging from -0.27 to 0.19 for knowledge and from -0.37 to 0.26 for experiences (negative correlations with negative emotions and insecurities, and positive correlations with confidence in skills). Equipping teachers to handle both the medical and psychosocial aspects of epilepsy is crucial for ensuring the well-being of SWE at school.</p>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"163 ","pages":"110157"},"PeriodicalIF":2.3,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142846248","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":"Awareness and driving safety during awake interictal epileptiform discharges in idiopathic generalised epilepsies: A systematic review.","authors":"Basheer Arnaout, Ewan S Nurse, Mark J Cook","doi":"10.1016/j.yebeh.2024.110197","DOIUrl":"https://doi.org/10.1016/j.yebeh.2024.110197","url":null,"abstract":"<p><p>Idiopathic generalised epilepsies (IGEs) are a family of epileptic syndromes that commonly occur in childhood or adolescence and can persist into adulthood. Whilst people with IGE may consider themselves seizure free, they often experience interictal epileptiform discharges (IEDs) that may be associated with unrecognised periods of impaired awareness. As such, the presence of long IEDs associated with unrecognised loss of awareness pose a major challenge in allowing these individuals to drive safely, particularly since not all IEDs are associated with impaired awareness. Here we conduct a systematic review of the literature to characterise factors associated with impaired awareness during IEDs in adults. This review includes articles written in English and was limited to patients with IGE ≥16 years with evidence of IEDs on EEG. The outcomes assessed included electroclinical descriptions of IED manifestations and fitness to drive assessments in people with IGE. The systematic literature search yielded 6 studies that met the inclusion criteria. A quality assessment of the cohort studies included was conducted using a modified Newcastle Ottawa Scale. Prior research has utilised driving simulations and prolonged video EEG monitoring for fitness to drive assessments delivering positive outcomes. They have shown that the clinical manifestation of IEDs is dependent upon the discharge duration. Furthermore, it has been shown that IED morphology can be described as generalised spike or polyspike wave discharges. Additionally, expert opinion has demonstrated significant variability in practice concerning driving clearance for patients with IGEs, with only a minority utilising prolonged EEG monitoring. This review highlights our current inability to reliably predict the cognitive status of a people with IGE during IEDs. However, emerging research on the use of machine learning algorithms to analyse IED waveforms appears promising, offering a potential solution to this issue.</p>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"163 ","pages":"110197"},"PeriodicalIF":2.3,"publicationDate":"2024-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142834767","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":"Effectiveness and safety of transcutaneous auricular vagus nerve stimulation for depression in patients with epilepsy.","authors":"Zheng Yan Ran Xu, Jia Jia Fang, Xiao Qin Fan, Long Long Xu, Gui Fang Jin, Mei Hua Lei, Yu Fei Wang, Jun Biao Liu, Fang Dong, Lu Rong Jiang, Yi Guo","doi":"10.1016/j.yebeh.2024.110226","DOIUrl":"https://doi.org/10.1016/j.yebeh.2024.110226","url":null,"abstract":"<p><strong>Objective: </strong>Our study aimed to evaluate the effectiveness and safety of transcutaneous auricular vagus nerve stimulation (taVNS) for treating mild to moderate depression in patients with epilepsy (PWE).</p><p><strong>Methods: </strong>A single-arm, prospective, multi-center, pre-post controlled study was conducted in Eastern China. After a four-week baseline period, PWE with mild to moderate depression began treatment with taVNS, administered for 30 min, three times daily, over a 12-week period. The primary outcome measure was the change in 24-item Hamilton Depression Rating Scale (HAMD) scores from baseline to week 12. Secondary outcomes included the response and remission rates for depression at week 12, as well as changes in the 14-item Hamilton Anxiety Rating Scale (HAMA), the Pittsburgh Sleep Quality Index (PSQI), and the Quality of Life in Epilepsy Inventory-31 (QOLIE-31) scores, and seizure frequency at weeks 4 and 12 compared to baseline. Adverse events (AEs) were recorded to assess the safety of taVNS. Both modified Intention-To-Treat (mITT) and Per-Protocol (PP) analyses were employed.</p><p><strong>Results: </strong>Sixty-nine participants were enrolled in this study. Of these, 61 (88.4 %) completed the 4-week treatment phase, and 50 (72.5 %) finished the 12-week treatment phase. In the mITT analysis, HAMD scores significantly decreased by 4.54 ± 7.44 (p < 0.001) from baseline to week 12, with clinical response in 16 (26.2 %) and remission in 15 (24.6 %) patients. HAMA scores also decreased significantly by week 4 (3.23 ± 5.18, p < 0.001) and week 12 (4.95 ± 6.78, p < 0.001). PSQI scores and seizure frequency showed non-significant changes at week 4, but seizure frequency decreased significantly by week 12 (0.03 ± 10.47, p = 0.038). In the PP analysis, similar improvements were observed. After 12 weeks of taVNS compared to baseline, HAMD scores decreased significantly by 5.32 ± 8.98 (p < 0.001), with 32 % of patients achieving a clinical response and 24 % achieving clinical remission. And HAMA scores also decreased by 5.66 ± 7.54 (p < 0.001), seizure frequency by 0.14 ± 11.03 (p = 0.018), and PSQI scores by 1.06 ± 4.14 (p = 0.076).There was a significant increase in QOLIE-31 scores by 5.17 ± 14.71 (p = 0.020). Ten (14.5 %) patients experienced non-serious adverse events, the most common of which was ear pain (n = 4); one patient withdrew due to tinnitus enhancement; all resolved after reducing the stimulation intensity or stopping the treatment.</p><p><strong>Conclusion: </strong>Our study suggests that taVNS may effectively improve depressive symptoms in PWE. This may be an efficacious and safe treatment for mild to moderate depression in PWE.</p>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"163 ","pages":"110226"},"PeriodicalIF":2.3,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142827702","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":"Spirituality, religion, and personal beliefs in Brazilian adults with epilepsy.","authors":"Gloria M A S Tedrus","doi":"10.1016/j.yebeh.2024.110223","DOIUrl":"https://doi.org/10.1016/j.yebeh.2024.110223","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the relationship between S/R, demographic data, and clinical variables of Brazilian adult patients with epilepsy (PWE).</p><p><strong>Methodology: </strong>The scores of the WHO Quality of Life for Assessment of Spirituality, Religion, and Personal Beliefs (WHOQOL-SRPB) were related to demographic and clinical aspects, the Spirituality Self-Rating Scale (SSRS), and the Spiritual/Religious Coping Scale (SRC) of 60 PWE.</p><p><strong>Results: </strong>The mean age was 42.8y and 35 (58.3%) patients reported regular religious practice. In the WHOQOL-SRPB, greater inner peace and harmony were observed in women, greater wholeness and integration, hope and optimism in married patients, and greater spiritual connection in patients with religious practice. The use of polytherapy with antiseizure medication (ASM) was associated with lower spiritual connection, wholeness, integration, and S/N in the WHOQOL-SRPB. The higher seizure frequency was associated with lower spiritual connection. Facet scores and total scores of the WHOQOL-SRPB were significantly correlated with positive and negative coping and a greater perception of spiritual guidance.</p><p><strong>Conclusion: </strong>In the PWE, the use of S/R differed according to gender, marital status, and religious practice. Clinical variables influenced the perception of S/R, which differed according to the use of ASM, frequency, and type of epileptic seizures. The greater use of coping and spiritual guidance was associated with different facets of S/R and personal beliefs.</p>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"163 ","pages":"110223"},"PeriodicalIF":2.3,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142827803","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":"Unveiling cognitive disengagement syndrome: A hidden challenge in children with epilepsy.","authors":"Cansu Mercan Isik, Dilek Cebeci","doi":"10.1016/j.yebeh.2024.110182","DOIUrl":"https://doi.org/10.1016/j.yebeh.2024.110182","url":null,"abstract":"<p><strong>Background: </strong>In our study, we aimed to investigate the prevalence of cognitive disengagement syndrome (CDS) and attention deficit hyperactivity disorder (ADHD) in children with epilepsy and to identify the associated factors.</p><p><strong>Method: </strong>The study included 62 patients with epilepsy aged 6-18 and 51 healthy controls. Sociodemographic data, epilepsy characteristics, and medication usage were collected. Psychiatric evaluations used various structured interviews and scales.</p><p><strong>Results: </strong>The mean ages for patients and controls were 9.7 and 9.9 years, respectively. CDS was present in 76 % of patients with epilepsy compared to 26 % of controls (p < 0.01). Patients with epilepsy scored higher on Barkley Child Attention Scale (BCAS) and Turgay DSM-IV Disruptive Behavior Disorders Symptom Screening Scale (T-DSM-IV-S). CDS prevalence was higher in patients without seizure control and those over age 12. Linear regressions demonstrated that age predicted BCAS-sluggish scores (R²: 0.284, p < 0.001) and T-DSM-IV-S hyperactivity scores (R²: 0.065, p: 0.023). The number of antiseizure medications (R²: 0.065, p: 0.023) and the duration of antiseizure medication usage (R²: 0.079, p: 0.014) predicted T-DSM-IV-S oppositional scores.</p><p><strong>Conclusion: </strong>Our study is the first study in this field. Our study findings highlight the need for further research to understand the pathophysiological mechanisms underlying CDS in epilepsy and to develop targeted interventions.</p>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"163 ","pages":"110182"},"PeriodicalIF":2.3,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142823868","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":"Examining parental participation in a successful psychological intervention for young people with epilepsy and mental health difficulties: Results from a longitudinal qualitative study within a randomised controlled trial.","authors":"Jonathan A Smith, Isabella E Nizza, Sophie D Bennett, J Helen Cross, Isobel Heyman, Anna E Coughtrey, James Blackstone, Emma Dalrymple, Bruce Chorpita, Roz Shafran","doi":"10.1016/j.yebeh.2024.110169","DOIUrl":"https://doi.org/10.1016/j.yebeh.2024.110169","url":null,"abstract":"<p><strong>Objective: </strong>Children with epilepsy may have significant mental health needs with detrimental impact on quality of life, and families often request support and intervention. This paper explores the change experienced by parents of young people with epilepsy and mental health difficulties receiving an integrated mental health intervention.</p><p><strong>Methods: </strong>A qualitative study was conducted within a randomised controlled trial evaluating the Mental Health Intervention for Children with Epilepsy (MICE) psychological therapy in addition to usual care. Twenty-four families receiving the intervention were interviewed twice, at baseline and at six months, about their experience with their child's mental and physical health, and therapy. Transcripts were analysed inductively, idiographically and longitudinally using a combination of Interpretative Phenomenological Analysis (IPA) and Framework Analysis (FA). This combination allows us to begin our analysis with the detailed analysis of cases and then move to an appropriately higher level of generalization across the corpus.</p><p><strong>Results: </strong>Analysis shows changes in how the parents report their experience of their child's difficulties between baseline and 6-month interviews. While parents tended to show some understanding of epilepsy and its effects on their child in the first interview, comparisons with the second interview show enhanced understanding along with improvements in their relationship with their child, and feelings about themselves as parents. These findings were particularly relevant for parents of children with autism spectrum disorders and/or intellectual disability.</p><p><strong>Study limitations: </strong>Not all families were able to benefit equally from the therapy, with some declining to participate or being lost to follow up and mothers being more forthcoming than fathers to take part in the research. It would have been interesting to also interview families 12 months post-baseline to gain insight on the longer-term impacts of the intervention.</p><p><strong>Conclusions: </strong>The qualitative findings presented here offer new insights into parental experiences of living with and attempting to assist a child with a complex condition. We would also hope the study will be helpful to researchers and clinicians working with a range of illnesses which impact families.</p>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"163 ","pages":"110169"},"PeriodicalIF":2.3,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142823792","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":"HLA typing in anti-GAD antibody associated epilepsy.","authors":"Lisa Gillinder, Tamara Powell, Donald Craig, Stephen Walsh, David Gillis, Pamela McCombe","doi":"10.1016/j.yebeh.2024.110179","DOIUrl":"https://doi.org/10.1016/j.yebeh.2024.110179","url":null,"abstract":"<p><strong>Objective: </strong>Anti-GAD65 antibodies have been identified in people with epilepsy for many years, but their pathophysiological relevance is still debated. Susceptibility to autoimmune disease has been associated with Human Leukocyte Antigen (HLA) subtypes. Therefore, this study aimed to determine if there are common HLA types in anti-GAD65 antibody associated epilepsy cases compared to epilepsy controls.</p><p><strong>Methods: </strong>People with anti-GAD65 associated epilepsy and epilepsy controls were recruited from three Brisbane Hospitals from 2021 to 2023. Cases had high titre anti-GAD65 antibodies confirmed in CSF. High resolution genotyping for class I and II HLA to 3 fields was performed using next generation sequencing.</p><p><strong>Results: </strong>10 anti-GAD65 cases (8 with epilepsy and 2 with post-encephalitic epilepsy) and 45 controls were included. 6 cases (all female) had co-morbid autoimmune disease. A single class II association was found for DPB1*02 (Padj = 0.0109), which was identified in 7 of the cases (70 % vs 7.7 % controls). Significant association was preserved at high resolution for HLA-DPB1*02:02:01.</p><p><strong>Conclusion: </strong>HLA association in anti-GAD65 antibody associated epilepsy might provide preliminary evidence to implicate an immune aetiology. DPB1*02 may confer a susceptibility to anti-GAD65 associated epilepsy and this class II association suggests a role for T cells in the pathophysiology.</p>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"163 ","pages":"110179"},"PeriodicalIF":2.3,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142823799","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}