Seizure-European Journal of Epilepsy最新文献

{"title":"Electroencephalogram microstate analysis in temporal lobe epilepsy: A comparative study with and without anxiety","authors":"Yanan Chen ,&nbsp;Xiong Han ,&nbsp;Ying Li ,&nbsp;Zhe Ren ,&nbsp;Ting Zhao ,&nbsp;Jianyue Pang ,&nbsp;Na Wang ,&nbsp;Yao Zhou ,&nbsp;Lei Sun ,&nbsp;Jing Gao ,&nbsp;Bin Wang ,&nbsp;Hengfen Li","doi":"10.1016/j.seizure.2025.05.014","DOIUrl":"10.1016/j.seizure.2025.05.014","url":null,"abstract":"<div><h3>Background</h3><div>Anxiety is a prevalent psychiatric comorbidity in temporal lobe epilepsy (TLE), however, limited attention has been given to the dynamic characteristics of TLE coexisting with anxiety.The aim of this study was to examine abnormal resting-state Electroencephalography (EEG) microstate dynamics in TLE patients with anxiety disorders compared with TLE patients without anxiety disorders and healthy controls.</div></div><div><h3>Methods</h3><div>Ninety participants in this study: 30 healthy controls (HC), 30 TLE patients with anxiety (PAS), and 30 TLE patients without anxiety (nPAS). The dynamic changes in the entire brain were detected using a 21-channel EEG for microstate analysis. This study comprehensively compared the mean duration, frequency of occurrence, time coverage, and transition probability of each microstate(A, B, C, D) among the three groups. Rigorous statistical methods were employed to ensure the robustness and validity of the research findings.</div></div><div><h3>Results</h3><div>The results of EEG microstate analysis revealed that the occurrence frequency and time coverage of microstate B (visual network) in the PAS were significantly reduced compared to the nPAS. Compared to HC and nPAS groups, patients with PAS exhibited alterations in the probability of EEG microstate transitions: an increase in transitions from the microstate C (salience network) to the microstate A (auditory network), a decrease in transitions from the dorsal microstate C (salience network) and microstate D (attention network) to the microstate B (visual network). These changes suggest heightened overall network alertness, impaired attention-visual pathway function, and decreased stability of the attention network.</div></div><div><h3>Conclusion</h3><div>Our research reveals that anxiety disorders in individuals with temporal lobe epilepsy are characterized by heightened alertness, impaired attention-visual integration, and instability of the dorsal attention network. This highlights the significant impact of anxiety on brain network remodeling and cognitive control deficits. Changes in EEG microstate dynamics may serve as a novel biomarker for psychiatric complications associated with epilepsy.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"130 ","pages":"Pages 92-99"},"PeriodicalIF":2.7,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144169510","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 risk prediction model for seizure development in patients with brain metastases","authors":"Seraj Makkawi ,&nbsp;Shatha Alqurashi ,&nbsp;Toka Banjar ,&nbsp;Feras Alharbi ,&nbsp;Ahmed Alkhiri ,&nbsp;Manar Betar ,&nbsp;Mohamed Eldigire Ahmed ,&nbsp;Danya Aljafari ,&nbsp;Aisha Halawani ,&nbsp;Hani Mufti","doi":"10.1016/j.seizure.2025.05.013","DOIUrl":"10.1016/j.seizure.2025.05.013","url":null,"abstract":"<div><h3>Background</h3><div>Limited data exists evaluating the incidence and risk factors for seizures in patients with brain metastases (BM). This study aimed to investigate seizure incidence patterns in relation to several radiological and clinical factors and develop a predictive model to stratify patients with BM according to their seizure risk.</div></div><div><h3>Method</h3><div>A single-center retrospective analysis was conducted at King Abdulaziz Medical City, Saudi Arabia, studying patients with BM between July 2016 and January 2023. Univariate regression analysis evaluated potential risk factors, and a predictive model was developed. The model’s general performance was assessed using the Area Under the Receiver Operator Curve (AUC-ROC) and the Bayesian Information Criterion (BIC). Internal validation was done using the bootstrapping method.</div></div><div><h3>Results</h3><div>Among 272 patients, epilepsy was diagnosed in 80 (29.4 %). The score model identified cortical involvement (OR 28.08 [95 % CI, 9.22- 85.48],<em>p</em> &lt; 0.001), leptomeningeal metastases (OR 11.2 [95 % CI, 3.52–35.65],<em>p</em> &lt; 0.001), and female gender (OR 2.67 [95 % CI, 1.16–6.17],<em>p</em> = 0. 0211) as key signifcant predictors of seizure development. The model achieved an AUC-ROC of 81.89 %.</div></div><div><h3>Conclusion</h3><div>Female gender, cortical involvement, and leptomeningeal metastases were identified as significant seizure predictors in BM patients. The derived model can help identify high-risk patients potentially benefiting from prophylactic anti-seizure medications. Further validation in larger cohorts is needed.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"130 ","pages":"Pages 86-91"},"PeriodicalIF":2.7,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144169508","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":"Ictal electrical source imaging for localizing the epileptogenic zone in drug-resistant epilepsy: A retrospective study","authors":"Boyoung Kim ,&nbsp;Hyoung-ju Kim ,&nbsp;Hyojin Nam ,&nbsp;Eun-Ju Choi ,&nbsp;Seok Ho Hong ,&nbsp;Yong Seo Koo","doi":"10.1016/j.seizure.2025.05.010","DOIUrl":"10.1016/j.seizure.2025.05.010","url":null,"abstract":"<div><h3>Purpose</h3><div>This study aims to analyze the clinical utility of electrical source imaging (ESI) of ictal rhythms in epilepsy surgery.</div></div><div><h3>Methods</h3><div>Medical records of 42 patients who underwent resective epilepsy surgery at Asan Medical Center (2000–2021) were reviewed. All patients underwent long-term video-EEG monitoring. EEG data were analyzed for ictal onset, rhythm patterns, and dominant frequency. Ictal ESI (IC-ESI) findings were compared with 18-fluorodeoxyglucose positron emission tomography (18-FDG-PET), ictal single-photon emission computed tomography (SPECT), and intracranial EEG to assess concordance, with surgical outcomes in Engel classification.</div></div><div><h3>Results</h3><div>Among 223 analyzed seizures, the overall localization accuracy of IC-ESI was 48.0 % (95 % CI: 41.5–54.5 %). Localization to the deep temporal region showed significantly higher accuracy (64.7 %, 95 % CI: 54.1–74.0 %) and sensitivity (86.4 %, 95 % CI: 75.5–93.0 %) than those outside this region (accuracy: 35.2 %, 95 % CI: 27.4–43.9 %; sensitivity: 17.4 %, 95 % CI: 11.0–26.7 %; <em>p</em> &lt; 0.001 for both). At the patient level, IC-ESI demonstrated a 59.5 % accuracy (95 % CI: 44.5–73.0 %) and 76.7 % sensitivity (95 % CI: 59.1–88.2 %). Accuracy differences between IC-ESI and 18-FDG-PET and ictal SPECT were not significant (<em>p</em> = 0.15). Dye injection within 15.5 s of ictal EEG onset was associated with concordant SPECT and IC-ESI findings (<em>p</em> = 0.03). IC-ESI accuracy was independent of MRI (<em>p</em> = 0.60) or intracranial EEG findings (<em>p</em> = 0.18; 95 % CI: 0.02–1.94).</div></div><div><h3>Conclusion</h3><div>IC-ESI achieves accuracy comparable to that of ictal SPECT and 18-FDG-PET, supporting its reliability for identifying epileptogenic zones, particularly in temporal lobe epilepsy. Despite challenges in detecting ictal rhythms, IC-ESI adds clinical value to presurgical evaluations.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"130 ","pages":"Pages 70-79"},"PeriodicalIF":2.7,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144107566","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":"Epilepsy with myoclonic absences associated with a pathogenic CREBBP variant: A case report of Rubinstein–Taybi syndrome","authors":"Kohei Matsubara ,&nbsp;Kohei Yamakawa ,&nbsp;Risako Ishioka ,&nbsp;Masataka Fukuoka ,&nbsp;Nukui Megumi ,&nbsp;Takeshi Inoue ,&nbsp;Ichiro Kuki ,&nbsp;Yuri Uchiyama ,&nbsp;Takeshi Mizuguchi ,&nbsp;Naomichi Matsumoto ,&nbsp;Shin Okazaki","doi":"10.1016/j.seizure.2025.05.012","DOIUrl":"10.1016/j.seizure.2025.05.012","url":null,"abstract":"","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 1-4"},"PeriodicalIF":2.7,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144185644","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":"Prevalence and patterns of comorbidities in individuals with epilepsy: A nationwide analysis using colombian healthcare registry data","authors":"Camila Pantoja-Ruiz ,&nbsp;Carmela Fawcett ,&nbsp;Isabela Lacouture ,&nbsp;Hannia Barrios ,&nbsp;Daniel Nariño ,&nbsp;Diego Rosselli","doi":"10.1016/j.seizure.2025.05.009","DOIUrl":"10.1016/j.seizure.2025.05.009","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Introduction&lt;/h3&gt;&lt;div&gt;Epilepsy is a multifaceted neurological disorder that extends beyond seizure episodes, with substantial comorbidities impacting patients' quality of life. This study quantifies the burden and association patterns of epilepsy-related comorbidities in the Colombian population.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Methods&lt;/h3&gt;&lt;div&gt;This descriptive, cross-sectional study analyzed data from the nationwide Colombian healthcare registry (RIPS) from 2019 to 2023. We estimated the prevalence of epilepsy and selected comorbidities including neurological conditions (migraine, multiple sclerosis, stroke, Alzheimer's disease in individuals 65+), psychiatric disorders (depression, major depression, anxiety, schizophrenia), trauma (general and head trauma), and infectious diseases (HIV, neurocysticercosis). Prevalence ratios (PRs) were calculated comparing individuals with epilepsy to those without, with stratification by sex and age groups. Chi-squared tests were conducted to assess statistical significance of differences in prevalence, with &lt;em&gt;p&lt;/em&gt; &lt; 0.05 considered significant.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;Among 53,785,138 individuals in the Colombian healthcare system, 461,118 were diagnosed with epilepsy (prevalence 8.57 per 1000), with the highest prevalence in older adults (11.37 per 1000 in ages 65+). Neurological comorbidities were common, with migraine present in 6.86 % of epilepsy patients versus 3.89 % in the general population (&lt;em&gt;p&lt;/em&gt; &lt; 0.001), multiple sclerosis in 0.152 % versus 0.021 % (&lt;em&gt;p&lt;/em&gt; &lt; 0.001), and stroke in 6.04 % versus 0.75 % (&lt;em&gt;p&lt;/em&gt; &lt; 0.001). Among psychiatric conditions, depression affected 5.84 % of epilepsy patients compared to 1.87 % in the general population (&lt;em&gt;p&lt;/em&gt; &lt; 0.001), while schizophrenia was diagnosed in 4.13 % of epilepsy patients versus 0.41 % in the general population (&lt;em&gt;p&lt;/em&gt; &lt; 0.001). Trauma was present in 25.0 % of epilepsy patients compared to 16.4 % generally (&lt;em&gt;p&lt;/em&gt; &lt; 0.001), with head trauma specifically in 7.1 % versus 2.5 % (&lt;em&gt;p&lt;/em&gt; &lt; 0.001). Neurocysticercosis, though rare overall (0.0064 % in general population), was notably more prevalent in epilepsy patients (0.289 %, &lt;em&gt;p&lt;/em&gt; &lt; 0.001). Significant sex differences were observed, with females showing higher prevalence of migraine (9.82 % vs 3.89 % in males) and depression (7.33 % vs 4.34 %) within the epilepsy population, while males had higher rates of schizophrenia (4.81 % vs 3.46 %) and head trauma (8.93 % vs 5.32 %).&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusion&lt;/h3&gt;&lt;div&gt;This study provides critical insights into the burden of epilepsy-related comorbidities in Colombia, highlighting the importance of targeted interventions. The substantial comorbidity burden demonstrated across neurological, psychiatric, traumatic, and infectious domains underscores the importance of interdisciplinary, patient-centered care approaches that extend beyond seizure control. By addressing these comorbidities ","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"130 ","pages":"Pages 80-85"},"PeriodicalIF":2.7,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144124354","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":"Predicting antiseizure medication response in newly diagnosed epilepsy using quantitative EEG and machine learning","authors":"Gha-Hyun Lee ,&nbsp;Sang Min Sung ,&nbsp;Kwang-Dong Choi ,&nbsp;Jiyoung Kim ,&nbsp;Jae Wook Cho ,&nbsp;Sang Ho Kim","doi":"10.1016/j.seizure.2025.05.007","DOIUrl":"10.1016/j.seizure.2025.05.007","url":null,"abstract":"<div><h3>Background</h3><div>Predicting long-term outcomes in newly diagnosed epilepsy remains limited by reliance on clinical features and visual EEG interpretation. Machine learning enhances this potential by identifying complex patterns in EEG data, as demonstrated in studies on predicting surgical outcomes and seizure initiation. However, its application to predicting ASM response in newly diagnosed epilepsy has been underexplored. This study aimed to develop a machine learning model to predict ASM response in newly diagnosed epilepsy patients, with the goal of improving personalized treatment strategies and early identification of drug resistance.</div></div><div><h3>Methods</h3><div>This retrospective cohort study included adult patients with a new epilepsy diagnosis who underwent EEG prior to ASM initiation. Patients with structural brain lesions on MRI were excluded. Seizure control was assessed two years after starting ASM treatment, with responders defined as those achieving at least one year of seizure freedom during the second year. We applied three prediction approaches: one using only clinical variables, another using only EEG features, and a third integrating both clinical and EEG data. For each approach, Logistic Regression, Extreme Gradient Boosting (XGBoost) and Random Forest models were implemented to assess predictive performance and suitability for ASM response prediction. Model performance was evaluated at both epoch and patient levels, with patient-level predictions generated by averaging class probabilities across epochs.</div></div><div><h3>Results</h3><div>This study included 94 patients with newly diagnosed epilepsy who received EEG before starting ASM treatment, of whom 77 (81.9%) achieved seizure freedom. Machine learning models using clinical features showed moderate predictive performance, with the XGBoost model achieving the highest AUROC of 0.69. For EEG features, patient-level predictions improved model performance, with the Random Forest model achieving an AUROC of 0.68. The combined clinical-EEG model significantly enhanced accuracy, with Random Forest model achieving the best performance (AUROC: 0.81). Among EEG features, power spectral density (PSD) in the beta and gamma bands, along with sample entropy, were identified as the most predictive of treatment response.</div></div><div><h3>Conclusion</h3><div>Quantitative EEG analysis using machine learning shows significant potential in predicting the long-term prognosis of newly diagnosed epilepsy, even in patients without structural brain lesions or visually abnormal background EEGs. By integrating clinical variables with quantitative EEG features, these machine learning models demonstrate potential to support individualized treatment planning and the early identification of drug resistance. However, further validation in larger and diverse populations is needed before clinical implementation.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"130 ","pages":"Pages 59-67"},"PeriodicalIF":2.7,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144072386","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 EpiLing-Tool: A new tool to distinguish epileptic seizures from dissociative seizures in the first encounter between physician and patient","authors":"Joachim Opp ,&nbsp;Katja Kreul ,&nbsp;Markus Reuber ,&nbsp;Birte Schaller-Birkenhake ,&nbsp;Theodor W. May ,&nbsp;Barbara Frank-Job","doi":"10.1016/j.seizure.2025.04.019","DOIUrl":"10.1016/j.seizure.2025.04.019","url":null,"abstract":"<div><h3>Purpose</h3><div>Studies have shown that conversation analysis of doctor-patient-encounters can help with the distinction of accounts of epileptic seizures (ES) and dissociative seizures (DS). We were keen to make these linguistic insights available to clinicians.</div></div><div><h3>Methods</h3><div>We analyzed 80 doctor-patient-encounters with young seizure patients (aged 6.1 to 17.9 years, mean 13.9 years). The conversations followed a guideline highlighting the importance of open invitations for patients to talk.</div><div>Based on previous studies, we created the EpiLing-Tool: a scoring-table with two sets of eight items – either favoring a diagnosis of ES or DS. The items focus on how patients describe the seizures, on their attitude towards the seizures, seizure interruption strategies and the course of the conversation.</div><div>In two one-day-training sessions clinicians blinded to the medical diagnosis used the EpiLing-Tool on recordings of patient interviews. In one session 50 participants rated eleven recordings, in the other session 25 participants rated ten different recordings.</div></div><div><h3>Results</h3><div>A mean of 30.8 EpiLing-Tools (range 9 to 49) were completed for every recording. In the eight patients with DS, the correct diagnostic conclusion was documented in 206 of 237 ratings using the EpiLing-Tool (sensitivity 86.9 %). In the ES group, the correct diagnosis was identified in 364 of 409 ratings (sensitivity 89.0 %); the sensitivity of the tool did not differ between the five patients with focal ES (sensitivity 88.6 %), and the eight patients with generalized ES (sensitivity 89.2 %).</div></div><div><h3>Conclusions</h3><div>The EpiLing-Tool is a simple and promising scoring table that can help clinicians to recognize DS when they first take the history of children and adolescents with seizures.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"130 ","pages":"Pages 100-105"},"PeriodicalIF":2.7,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144194761","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":"Seizure admissions in Australia: Further perspectives","authors":"Areeb Fatima ,&nbsp;Muhammad Irtaza Hussain Bakhtiari ,&nbsp;Maryam Adnan","doi":"10.1016/j.seizure.2025.05.006","DOIUrl":"10.1016/j.seizure.2025.05.006","url":null,"abstract":"<div><div>This letter offers additional perspectives on the valuable analysis of seizure-related hospital admissions in Australia presented by Muthusamy et al. (2025). While the study provides important quantitative insights, we suggest that considering certain factors could further enhance the interpretation of its findings. Specifically, the study's focus on public hospital data requires careful consideration in the context of Australia's mixed public-private healthcare system. Additionally, incorporating qualitative data to complement the quantitative analysis could provide a more detailed understanding of patient experiences. Finally, we propose that a more comprehensive definition of healthcare access, beyond geographical distance, would be beneficial. Addressing these points, including the role of private healthcare, patient-reported outcomes, and the multifaceted nature of access, may contribute to the development of more comprehensive and equitable strategies for epilepsy care in Australia.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"130 ","pages":"Pages 68-69"},"PeriodicalIF":2.7,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144098818","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":"In vitro modelling of the neuropathophysiological features of mitochondrial epilepsy.","authors":"Laura A Smith, Ella B Keane, Kate Connor, Felix Chan, Mark O Cunningham","doi":"10.1016/j.seizure.2025.05.005","DOIUrl":"https://doi.org/10.1016/j.seizure.2025.05.005","url":null,"abstract":"<p><p>Epilepsy is a common and severe neurological manifestation of primary mitochondrial disease, affecting approximately 60 % of paediatric patients and 20 % of adult patients. Many of the mitochondrial epilepsies, particularly those presenting in childhood, are refractory to anti-epileptic treatment. Moreover, these conditions are typically characterised by severe neurodegeneration and closely associated with neurological decline and premature death. Indeed, there persists an urgent need to delineate the mechanisms underpinning mitochondrial epilepsy in order to develop effective treatments. In this review, we provide an overview of currently available in vitro models of the mitochondrial epilepsies. Such models offer opportunities to characterise early disease pathophysiology and interrogate novel mitochondrial-targeting and anti-epileptic treatments, with an overall aim to modulate seizure associated pathology and activity for the mitochondrial epilepsies. We discuss the use of acute cortical and subcortical brain slice preparations, obtained from both neurosurgical patients and rodents, for modelling the common neuropathophysiological features of mitochondrial epilepsy. We also review the use of induced pluripotent stem cell derived neural and glial culture models, and the development of three-dimensional cerebral organoids, generated from fibroblasts obtained from patients with primary mitochondrial disease. Human-derived, disease-relevant in vitro model systems which recapitulate the complexity and pathological features observed in patient brain tissues are crucial to help bridge the gap between animal models and patients living with mitochondrial epilepsy.</p>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144133155","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":"Clinical and EEG-EMG characteristics of perioral myoclonia with absence seizures","authors":"Haipo Yang,&nbsp;Xiaoyan Liu,&nbsp;Jiaoyang Lu,&nbsp;Chenlu Jia,&nbsp;Qiujun Zhou,&nbsp;Lixuan Xu,&nbsp;Shuhui Fan,&nbsp;Shuang Wang","doi":"10.1016/j.seizure.2025.03.011","DOIUrl":"10.1016/j.seizure.2025.03.011","url":null,"abstract":"<div><h3>Objective</h3><div>This study aimed to explore the clinical and electrophysiological characteristics and treatment prognosis of patients with perioral myoclonia with absence (POMA).</div></div><div><h3>Method</h3><div>Patients with POMA were selected from our EEG database. The collected data included detailed clinical information, VEEG characteristics, and brain MRI results. Previously reported patients with POMA were also screened for inclusion in the study.</div></div><div><h3>Result</h3><div>Nineteen patients were included in the study. The median seizure onset age was 5 years (range, 2–11 years), with 84.2 % (16/19) of the patients being male. POMA was VEEG monitored in 73.7 % of the patients during both wakefulness and sleep, and 63.2 % (12/19) could be induced by hyperventilation (HV). Synchronized perioral electromyography confirmed that the ictal 3-Hz discharge was time-locked with the myoclonic jerks. Twelve patients underwent VEEG follow-up, with 66.7 % achieving seizure-free with valproate (VPA) monotherapy. A review of previous reports on 15 patients with POMA revealed that 66.7 % of patients being male. Five patients experienced worsening of seizures with oxcarbazepine (OXC), carbamazepine (CBZ), or phenytoin.</div></div><div><h3>Conclusion</h3><div>POMA epilepsy, although rare, still presents distinctive characteristics. POMA tends to occur more frequently in males. 73.7 % of the patients had POMA during both wakefulness and sleep. The VEEG background is mostly normal, with rhythmic 3-Hz generalized spike and wave discharges during the ictal period that are time-locked with perioral myoclonia. Patients with POMA respond well to VPA. POMA may be misdiagnosed as focal seizures, but the use of OXC, CBZ, and phenytoin sodium for treatment should be avoided.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"130 ","pages":"Pages 51-55"},"PeriodicalIF":2.7,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143934763","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}