Epilepsia Open最新文献

{"title":"Prevalence and factors associated with seizures among patients with dementia: A retrospective clinic-based study.","authors":"Liz Edenberg Quiles, Prima Kristina Paola Quintay, Veeda Michelle Anlacan, Adrian Espiritu, Viel Mendoza","doi":"10.1002/epi4.70013","DOIUrl":"https://doi.org/10.1002/epi4.70013","url":null,"abstract":"<p><strong>Objective: </strong>Chronic diseases associated with aging, such as dementia and seizures, are expected to rise significantly in the Philippines' growing elderly population. This study aims to determine the frequency, demographic characteristics, and clinical profile of dementia patients who developed new-onset seizures in an outpatient setting.</p><p><strong>Methods: </strong>This descriptive, retrospective, cumulative prevalence study included 245 patients diagnosed with dementia at a tertiary hospital in Manila from February 2010 to February 2020, according to DSM-5 criteria. Patients were stratified into those who developed seizures and those who did not. Data on demographics, type, dementia severity, comorbidities, and seizure characteristics were collected and analyzed using descriptive statistics, bivariate, and multivariate logistic regression analyses.</p><p><strong>Results: </strong>The study included 245 dementia patients, of whom 10 (4.1%) developed seizures, with a higher likelihood observed in those with severe dementia. Most patients were diagnosed with Alzheimer's disease, and seizures were mostly seen in individuals between the ages of 65 and 79. The majority of the seizures were classified as generalized (50%). Compared to mild cases, patients with moderate dementia are about 1.5 times more likely to experience seizures, whereas patients with severe dementia are about 10 times more likely to experience seizures compared to patients with mild dementia. The association is statistically significant for severe cases of dementia.</p><p><strong>Significance: </strong>This study revealed that 4.1% of Filipino patients diagnosed with dementia in an outpatient setting at a tertiary hospital developed new-onset seizures. Seizures were mostly reported in patients with severe Alzheimer's disease. Conventional understanding of seizures among patients with dementia is important to identify features and predictors to provide efficient management among these patients to possibly improve their quality of life.</p><p><strong>Plain language summary: </strong>With the aging Filipino population, there is an expected rise in chronic diseases such as dementia and seizures. This study looked at dementia patients in an outpatient setting over 10 years and found that 4.1% developed seizures. Most patients had Alzheimer's disease, and seizures were more common in severe dementia cases.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656436","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":"Compound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures.","authors":"Zhen Liu, Mei He, Xuan Luo, Hu Pan, Xiao Mao, Jinping Su","doi":"10.1002/epi4.13117","DOIUrl":"https://doi.org/10.1002/epi4.13117","url":null,"abstract":"<p><p>The COX4I1 is responsible for encoding a crucial component of cytochrome c oxidase, integral to electron transport in the mitochondrial respiratory chain. Mutations in COX4I1 can result in a rare autosomal recessive disorder characterized by growth retardation, slow weight gain, microcephaly, and potentially, hematologic symptoms such as Fanconi anemia or neurological impairments including developmental regression and severe epilepsy. In this study, we report the first case of COX4I1 deficiency in China, identified in a 6-year-old boy. The patient exhibited developmental regression, epilepsy, low body weight, microcephaly, generalized muscle hypotonia, and progressive cerebral atrophy, but without hematologic damage or short stature. Compound heterozygosity for a de novo 16q24.1 deletion and a P152T missense mutation in the COX4I1 was detected. The P152T missense mutation is previously reported in patients with similar clinical manifestations. Additionally, we provide the first instance of progressive brain atrophy observed through MRI in a COX4I1 deficiency patient, broadening our understanding of the mutation spectrum and clinical phenotype of this genetic disorder. PLAIN LANGUAGE SUMMARY: We discovered the first case of COX4I1 deficiency in China, identified in a 6-year-old boy. The patient exhibited developmental regression, epilepsy, low body weight, microcephaly, generalized muscle hypotonia, and progressive cerebral atrophy, but without hematologic damage or short stature. Compound heterozygosity for a de novo 16q24.1 deletion and a P152T missense mutation in the COX4I1 was detected. Additionally, we provide the first instance of progressive brain atrophy observed through MRI in a COX4I1 deficiency patient, broadening our understanding of the mutation spectrum and clinical phenotype of this genetic disorder.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647801","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":"Phenotype and surgical management of drug-resistant epilepsy in patients with COL4A1 and COL4A2 variants.","authors":"Jie Shi, Jiuluan Lin, Jianjun Bai, Haixiang Wang, Bingqing Zhang, Qian Feng, Zhaohui Sun, Yiou Liu, Jing He, Xiancheng Song, Siyu Wang, Xiaoyan Liu, Wenjing Zhou","doi":"10.1002/epi4.70014","DOIUrl":"https://doi.org/10.1002/epi4.70014","url":null,"abstract":"<p><strong>Objective: </strong>To summarize the clinical features of collagen type IV alpha 1/2 chain (COL4A)1/2-related epilepsy and the seizure outcomes of patients undergoing epilepsy surgery.</p><p><strong>Methods: </strong>We retrospectively analyzed the clinical, electroencephalography, and neuroimaging data; genetic characteristics; surgical details; and prognosis of 8 patients (4 boys) treated for COL4A1/2-related epilepsy at Tsinghua University Yuquan Hospital.</p><p><strong>Results: </strong>Two of the probands had COL4A1 variants and six had COL4A2 variants. Four of the variants were de novo. Prenatal abnormalities consisted of intrauterine growth retardation and ventriculomegaly. Three patients had a low birth weight, and one had perinatal retinal hemorrhage. The median age of seizure onset was 8 months, with 75% (6/8) experiencing epilepsy before age 1. Status epilepticus occurred in 38% (3/8) of patients. All patients experienced focal seizures, and 50% (4/8) had focal epileptic spasms. Hemiparesis was observed in 88% (7/8) of patients, and all 8 had developmental delays. The median number of anti-seizure drugs was 5, and all patients had drug-resistant epilepsy. Seven patients had seizures localized to one of the posterior quadrants, consistent with the magnetic resonance imaging features of blurring of the gray-white matter junction and positron emission tomography features of metabolic abnormalities. Other neuroimaging features included bilateral mild white matter abnormalities; unilateral porencephaly near the basal ganglia; ventriculomegaly; focal cerebral calcification; contralateral schizencephaly; and contralateral cortical thickening and cerebellar abnormalities. Six patients underwent unilateral posterior quadrant disconnection, five (83%) of whom had no recurrence for at least 11 months and experienced developmental improvement. No surgical complications were reported. Pathological examination revealed malformations of cortical development in all six surgical cases (five with focal cortical dysplasia [FCD] type Ia and one with FCD type II).</p><p><strong>Significance: </strong>The results of this case series suggest that early surgical intervention in patients with COL4A1/2-related epilepsy with well-defined epileptogenic zones may improve seizure control and developmental outcomes.</p><p><strong>Plain language summary: </strong>In this case series of eight patients, epilepsy related to variants in the collagen type IV alpha 1/2 chain genes was characterized by drug-resistant localized seizures with an early onset, one-sided muscle weakness, and developmental delay. Neuroimaging revealed various brain abnormalities. Structural abnormalities outside the seizure-onset zone did not appear to affect surgical prognosis. Early surgical intervention in patients with well-defined seizure-onset zones improved seizure control and developmental outcomes.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585205","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":"Bromodomain-containing protein 2 gene polymorphism among patients with photosensitive epilepsy in Indonesia.","authors":"Diah Kurnia Mirawati, Muhana Fawwazy Ilyas, Muhammad Hafizhan, Stefanus Erdana Putra, Suroto Suroto, Subandi Subandi, Rivan Danuaji, Pepi Budianto, Yetty Hambarsari, Baarid Luqman Hamidi, Hanindia Riani Prabaningtyas, Ervina Arta Jayanti Hutabarat, Ira Ristinawati, Teddy Tejomukti, Raden Andi Ario Tedjo, Faris Khairuddin Syah","doi":"10.1002/epi4.70019","DOIUrl":"https://doi.org/10.1002/epi4.70019","url":null,"abstract":"<p><strong>Objectives: </strong>Genetic-associated epilepsy in the Indonesian population is rarely discussed, and no study was specifically studied about photosensitive epilepsy. The fundamental goal of this research endeavor was to evaluate whether the single nucleotide polymorphism (SNP) of the Bromodomain-Containing Protein 2 (BRD2) gene gives vulnerability to photosensitive epilepsy among Indonesian descent.</p><p><strong>Methods: </strong>This observational case-control study includes patients of Indonesian descent with Javanese ancestry. Clinical and neurophysiological data, along with electroencephalographic (EEG) recordings, were used to diagnose epilepsy and photosensitive epilepsy. Blood samples were collected and analyzed for BRD2 gene SNPs (rs206781, rs188245, and rs15912) using polymerase chain reaction (PCR), electrophoresis, and the Sanger sequencing method.</p><p><strong>Results: </strong>This study included 27 participants, consisting of 17 patients in the epilepsy group (nine patients with photosensitive epilepsy and eight patients without photosensitive epilepsy) and 10 patients in the non-epilepsy group. Significant statistical differences were found in genotype (rs206781, p = 0.008 and rs188245, p = 0.004) and allele frequencies (rs206781, p < 0.001 and rs188245, p < 0.001) of the BRD2 gene in Indonesian descent with Javanese race patients diagnosed with photosensitive epilepsy and in those without this condition.</p><p><strong>Significance: </strong>Our study corroborates the observation that genetic diversity within the BRD2 locus (rs206781 and rs188245) is associated with PE in Indonesian descendants of the Javanese race. To acquire a complete knowledge of the development of photosensitive epilepsy, further polymorphism studies at other SNP locations or genes are necessary.</p><p><strong>Plain language summary: </strong>This study investigated whether genetic differences in the BRD2 gene were linked to photosensitive epilepsy (a type of epilepsy triggered by visual stimuli like flashing lights) in individuals of Indonesian Javanese descent. We analyzed deoxyribonucleic acid (DNA) samples from patients with epilepsy, including those with photosensitive epilepsy, and found that certain variations in the BRD2 gene were significantly more common in people with photosensitive epilepsy. These findings imply that genetic factors, specifically variations in the BRD2 gene, could elevate the risk of individuals in this population experiencing photosensitive epilepsy.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572593","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":"Interim analysis of the long-term efficacy and safety of azetukalner in an ongoing open-label extension study following a phase 2b clinical trial (X-TOLE) in adults with focal epilepsy.","authors":"Jacqueline A French, Roger J Porter, Emilio Perucca, Martin J Brodie, Michael A Rogawski, Cynthia Harden, Jenny Qian, Constanza Luzon Rosenblut, Christopher Kenney, Gregory N Beatch","doi":"10.1002/epi4.70015","DOIUrl":"https://doi.org/10.1002/epi4.70015","url":null,"abstract":"<p><strong>Objective: </strong>To report interim data from an ongoing, open-label extension (OLE) of a Phase 2b study (X-TOLE) of azetukalner in adults with focal onset seizures (FOS) receiving 1-3 antiseizure medications.</p><p><strong>Methods: </strong>Eligible participants enrolled in the 7-year OLE at 20 mg azetukalner once daily with food. Long-term seizure outcomes included median percentage change (MPC) in monthly (28 days) FOS frequency from the double-blind phase (DBP) baseline and achievement of ≥50%, ≥75%, ≥90%, and 100% seizure reductions.</p><p><strong>Results: </strong>285 participants completed the DBP, and 275 (96.5%) enrolled in the OLE. At the 24-month interim analysis (September 5, 2023), 182 participants had been treated for ≥12 months and 165 for ≥24 months; 152 (55.3%) continued in the study. The median (range) treatment duration in the OLE was 26.3 (0.1-46.6) months. MPC reduction was 83.2% at 24 months in the OLE vs. DBP baseline. For all participants who entered the OLE, 56.4% (155/275) and 44.4% (122/275) achieved a ≥50% seizure reduction, 28.4% (78/275) and 19.6% (54/275) achieved a ≥90% seizure reduction, and 22.2% (61/275) and 14.9% (41/275) achieved seizure freedom (100% seizure reduction) for any consecutive ≥6- and ≥12-month period, respectively. For those who reached ≥24 months in the OLE, seizure freedom was achieved by 34.5% (57/165) and 23.6% (39/165) for any consecutive ≥6- and ≥12-month period, respectively. The majority of treatment-emergent adverse events (TEAEs) were mild or moderate. The most common TEAEs were dizziness (21.8%), headache (15.3%), coronavirus infection (15.3%), somnolence (12.7%), fall (12.7%), and memory impairment (10.9%). Serious AEs were reported in 35 (12.7%) participants.</p><p><strong>Significance: </strong>The efficacy demonstrated by azetukalner in reducing FOS seizure frequency in the DBP was sustained in this interim analysis. Azetukalner was generally well tolerated, with no new safety signals compared to the DBP. These data suggest sustained long-term efficacy and safety of azetukalner in a difficult-to-treat population.</p><p><strong>Plain language summary: </strong>This long-term study assessed the safety and efficacy of azetukalner to treat focal seizures. Patients taking azetukalner daily with food for about 2 years had far fewer focal seizures with azetukalner than before taking the medication. For those who had been treated for 24 months, about a third were seizure-free for a consecutive 6-month period, and about a quarter were seizure-free for a consecutive 12-month period. Most side effects were mild or moderate, and these included dizziness, headache, and somnolence (sleepiness).</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572596","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":"Statins' protective effects on focal epilepsy are independent of LDL-C.","authors":"Zhen Sun, Jing Zhang, Yulong Li, Miao Tuo, Limin Yu, Yun Wang, Yanping Sun","doi":"10.1002/epi4.70008","DOIUrl":"https://doi.org/10.1002/epi4.70008","url":null,"abstract":"<p><strong>Objective: </strong>This study evaluates the potential protective effects of statins against epilepsy, focusing on their differential impacts on focal and generalized epilepsy. It investigates the role of statins through the HMGCR gene and associated low-density lipoprotein (LDL) cholesterol levels.</p><p><strong>Methods: </strong>A two-sample Mendelian randomization (MR) and summary-data-based MR (SMR) approach were employed using genetic instruments from genome-wide association studies (GWASs) and expression quantitative trait loci (eQTLs). Subgroup analyses examined focal and generalized epilepsy, with sensitivity tests, including MR-Egger regression and MR-PRESSO, to assess horizontal pleiotropy and robustness.</p><p><strong>Results: </strong>SMR analysis found no significant association between HMGCR expression and epilepsy risk across subtypes (p > 0.05). However, inverse-variance-weighted MR (IVW-MR) showed that elevated LDL cholesterol mediated by HMGCR was linked to an increased risk of focal epilepsy (OR = 1.251, 95% CI = 1.135-1.378). No such association was observed for generalized epilepsy. Statins showed promise in reducing post-stroke epilepsy risk, likely through anti-inflammatory and neuroprotective effects.</p><p><strong>Significance: </strong>The findings suggest that statins' protective effects may be subtype-specific, particularly in post-stroke focal epilepsy. Further research is needed to elucidate underlying mechanisms and optimize their therapeutic potential in epilepsy management.</p><p><strong>Plain language summary: </strong>Statins, drugs typically used to manage cholesterol, may also lower the risk of developing certain types of epilepsy, especially post-stroke focal epilepsy, by reducing inflammation and protecting brain cells. The research found no clear effect of statins on generalized epilepsy or epilepsy caused by other factors. These results could aid in creating better treatments for epilepsy in the future.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572598","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":"Frequency-specific network changes in mesial temporal lobe epilepsy: Analysis of chronic and transient dysfunctions in the temporo-amygdala-orbitofrontal network using magnetoencephalography.","authors":"Tomotaka Ishizaki, Satoshi Maesawa, Takahiro Suzuki, Miki Hashida, Yoshiki Ito, Hiroyuki Yamamoto, Takafumi Tanei, Jun Natsume, Minoru Hoshiyama, Ryuta Saito","doi":"10.1002/epi4.70018","DOIUrl":"https://doi.org/10.1002/epi4.70018","url":null,"abstract":"<p><strong>Objective: </strong>Mesial temporal lobe epilepsy (MTLE) is associated with disruptions in the temporo-amygdala-orbitofrontal (TAO) network, a key component of the limbic system. We aimed to investigate TAO network alterations in patients with MTLE using magnetoencephalography (MEG), which overcomes susceptibility artifacts that limit functional MRI analysis of the orbitofrontal cortex.</p><p><strong>Methods: </strong>Nine seizure-free patients with MTLE post-temporal lobectomy and nine age- and sex-matched healthy controls were recruited. Preoperative MEG data were collected and segmented into frequency bands ranging from delta to ripple to assess functional connectivity (FC) between the bilateral hippocampi and TAO network.</p><p><strong>Results: </strong>Patients with MTLE exhibited increased FC between the affected hippocampus and amygdala across all frequency bands. Additionally, FC between the affected hippocampus and the medial prefrontal cortex (mPFC), orbitofrontal gyrus (OFG), and amygdala was elevated in the gamma and ripple bands compared with healthy controls. Conversely, FC between the healthy hippocampus and mPFC decreased in the alpha and beta bands. Furthermore, FC within the TAO network fluctuated before and after epileptic spikes; there was a decrease in the delta band between the bilateral hippocampi and the amygdala, OFG, and thalamus, whereas FC between the hippocampus and mPFC increased in the alpha, beta, and ripple bands.</p><p><strong>Significance: </strong>These findings suggest the formation of an abnormal network involving the affected hippocampus and the TAO network, particularly in the gamma-ripple bands, indicating epilepsy-induced network disruptions. Reduced FC in the healthy hippocampus and the TAO network may reflect frontal lobe dysfunction related to emotion and cognition. Additionally, both chronic and transient FC changes observed via MEG may contribute to the cognitive and psychiatric impairments experienced by patients with MTLE. This study highlights the significance of frequency-specific network alterations in understanding MTLE's pathophysiology and its impact on limbic system functions.</p><p><strong>Plain language summary: </strong>In mesial temporal lobe epilepsy, there may be abnormal connectivity between the hippocampus and the limbic system, which is involved in memory, cognition, and emotion. The changes in connectivity observed using magnetoencephalography may be implicated in cognitive and psychiatric problems experienced by patients with mesial temporal lobe epilepsy. Examining disruptions in the connectivity across brain regions in relation to epileptic activity could further the understanding of the pathophysiology of this debilitating condition and its impact on behavioral and emotional functions, among others.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143565820","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 following neonatal encephalopathy-Future directions.","authors":"Carol M Stephens, Jacopo Proietti, Sean R Mathieson, Vicki Livingstone, Brian McNamara, Niamh McSweeney, Olivia O'Mahony, Brian H Walsh, Deirdre M Murray, Geraldine B Boylan","doi":"10.1002/epi4.70011","DOIUrl":"https://doi.org/10.1002/epi4.70011","url":null,"abstract":"","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540633","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":"Quantitative EEG signatures in patients with and without epilepsy development after a first seizure.","authors":"Marysol Segovia-Oropeza, Erik Hans Ulrich Rauf, Ev-Christin Heide, Niels K Focke","doi":"10.1002/epi4.13128","DOIUrl":"https://doi.org/10.1002/epi4.13128","url":null,"abstract":"<p><strong>Objective: </strong>Diagnosing epilepsy after a first unprovoked seizure in the absence of visible epileptogenic lesions and interictal epileptiform discharges (IED) in the electroencephalogram (EEG) is challenging. Quantitative EEG analysis and functional connectivity (FC) have shown promise in identifying patterns across epilepsy syndromes. Hence, we retrospectively investigated whether there were differences in FC (imaginary part of coherency) and spectral band power in non-lesional, IED-free, unmedicated patients after a first unprovoked seizure in contrast to controls. Further, we investigated if there were differences between the patients who developed epilepsy and those who remained with a single seizure for at least 6 months after the first seizure.</p><p><strong>Methods: </strong>We used 240 s of resting-state EEG (19 channels) recordings of patients (n = 41) after a first unprovoked seizure and age and sex-matched healthy controls (n = 46). Twenty-one patients developed epilepsy (epilepsy group), while 20 had no further seizures during follow-up (single-seizure group). We computed source-reconstructed power and FC in five frequency bands (1 ± 29 Hz). Group differences were assessed using permutation analysis of linear models.</p><p><strong>Results: </strong>Patients who developed epilepsy showed increased theta power and FC, increased delta power, and decreased delta FC compared to healthy controls. The single-seizure group exhibited reduced beta-1 FC relative to the control group. In comparison with the single-seizure group, patients with epilepsy demonstrated elevated delta and theta power and decreased delta FC.</p><p><strong>Significance: </strong>Source-reconstructed data from routine EEGs identified distinct network patterns between non-lesional, IED-free, unmedicated patients who developed epilepsy and those who remained with a single seizure. Increased delta and theta power, along with decreased delta FC, could be a potential epilepsy biomarker. Further, decreases in beta-1 FC after a single seizure may point toward a protective mechanism for patients without further seizures.</p><p><strong>Plain language summary: </strong>After a first seizure, some people develop epilepsy, while others do not. We looked at brain activity in people who had a seizure but showed no clear signs of epilepsy. By comparing those who later developed epilepsy to those who did not, we found that certain slow brain wave patterns (delta and theta) might indicate a higher risk of developing epilepsy. This could help doctors identify high-risk patients sooner.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143556226","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 role of ubiquitin C-terminal hydrolase (UCH-L1) and protein S100B in differentiating patients with epileptic and psychogenic non-epileptic seizures - Pilot study.","authors":"Biljana Dapic Ivancic, Zeljka Petelin Gadze, Lana Ganoci, Petra Nimac Kozina, Dunja Rogic, Maja Zivkovic","doi":"10.1002/epi4.13130","DOIUrl":"https://doi.org/10.1002/epi4.13130","url":null,"abstract":"<p><strong>Objective: </strong>Psychogenic non-epileptic seizures (PNES) are functional neurological disorders that are often misdiagnosed and treated as epileptic seizures (ES). Video-electroencephalography (v-EEG) is the gold standard for differentiating ES from PNES. However, blood biomarkers provide a faster and more accessible methodology, particularly for unwitnessed events. Ubiquitin C-terminal hydrolase L1 (UCH-L1) and protein S100B are key biomarkers released following neuronal and glial damage. Previous experimental and clinical studies have shown increased postictal serum and cerebrospinal fluid (CSF) levels of UCH-L1 and S100B in patients with ES.</p><p><strong>Methods: </strong>This prospective cohort pilot study compared postictal serum levels of UCH-L1 and S100B proteins in subjects with ES to those with PNES, aiming to identify specific biomarkers for distinguishing these conditions. To exclude confounding factors, the inclusion criteria required normal magnetic resonance (MR) findings of the brain. Strict timing of blood sampling and v-EEG monitoring were used for diagnosing PNES. The study included 32 subjects with epilepsy, 36 with PNES, and 30 healthy controls.</p><p><strong>Results: </strong>A significant difference in postictal UCH-L1 levels was observed among the groups. Subjects with ES had significantly higher postictal UCH-L1 levels (pg/mL) compared to those with PNES (p = 0.049) and healthy controls (p = 0.029). No significant differences were found between PNES subjects and healthy controls (p = 0.756). Postictal protein S100B levels did not differ significantly between the groups (p = 0.515).</p><p><strong>Significance: </strong>This study confirms the potential of postictal UCH-L1 levels as a biomarker for distinguishing ES from PNES. However, it also raises questions about the utility of protein S100B as a biomarker in epilepsy. Given the pilot nature of this study, UCH-L1 cannot yet be adopted for clinical use due to the small sample size, as statistical significance may have been driven by a subset of eight patients.</p><p><strong>Plain language summary: </strong>This study evaluated two potential biomarkers, UCH-L1 and S100B, to differentiate ES from PNES in clinical practice. Our findings showed elevated postictal UCH-L1 levels in subjects with epilepsy compared to those with PNES, while no significant differences in S100B levels were observed among the groups.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537048","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}