Seizure-European Journal of Epilepsy最新文献

{"title":"The impact of sleep disorders on quality of life in patients with epilepsy","authors":"Xiang Huang ,&nbsp;Yingying Zhang ,&nbsp;Qiuxing Lin ,&nbsp;Kailing Huang ,&nbsp;Yuming Li ,&nbsp;Peiwen Liu ,&nbsp;Danyang Cao ,&nbsp;Wenhao Li ,&nbsp;Wei Li ,&nbsp;Dong Zhou ,&nbsp;Dongmei An","doi":"10.1016/j.seizure.2025.04.012","DOIUrl":"10.1016/j.seizure.2025.04.012","url":null,"abstract":"<div><h3>Objective</h3><div>We aimed to explore the prevalence of sleep disorders and their impact on the quality of life (QoL) in patients with epilepsy (PWE) in western China.</div></div><div><h3>Methods</h3><div>This cross-sectional study included PWE aged ≥14 years who were assessed using QoL in epilepsy-31 inventory (QOLIE-31), Insomnia Severity Index (ISI), STOP-BANG questionnaire, Epworth sleepiness scale (ESS), Pittsburgh sleep quality index (PSQI), Chinese version of Neurological Disorders Depression Inventory for Epilepsy (C<img>NDDI-E) and Generalized Anxiety Disorder-7 (GAD-7). The impact of sleep disorders, depression and anxiety on all aspects of QOLIE-31 scores in PWE were assessed.</div></div><div><h3>Results</h3><div>A total of 458 PWE were enrolled. Mean QOLIE-31 score was 51.27±9.69. Relevant assessment scales showed that 10.3 % of the patients suffered from insomnia, 12.9 % of the cohort had a high risk of obstructive sleep apnea (OSA), 33.0 % of the patients had excessive daytime sleepiness (EDS), 48.0 % of the patients reported poor sleep, while 46.3 % and 36.5 % of the patients reported depression and anxiety, respectively. The stepwise multivariate linear regression analysis highlighted that depression(β=-0.638, 95 %CI:0.876∼-0.401, <em>p</em> &lt; 0.05), anxiety(β=-0.508, 95 %CI:0.708∼-0.307, <em>p</em> &lt; 0.05), EDS(β=-0.210, 95 % CI:0.364∼-0.057, <em>p</em> = 0.007), number of antiseizure medications (ASMs)(β=-1.268, 95 % CI:2.318∼-0.217, <em>p</em> = 0.018), insomnia(β=-0.161, 95 % CI:0.292∼-0.030, <em>p</em> = 0.016) and seizure frequency(β=-0.570, 95 % CI:1.129∼-0.011, <em>p</em> = 0.046) were the main factors that influenced the total score of QOLIE-31 in PWE.</div></div><div><h3>Conclusions</h3><div>PWE showed a high prevalence of sleep disorders, especially insomnia, OSA and EDS, which significantly reduced the QoL of PWE in western China. Addressing sleep and psychiatric disorders might improve the overall QoL of PWE.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 115-122"},"PeriodicalIF":2.7,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143864710","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":"Problems and needs in everyday life of people with late-onset epilepsy: A scoping review categorization using the international classification of functioning, disability and health (ICF)","authors":"Theresa Eberhart ,&nbsp;Julia Kämmer ,&nbsp;Christoph Ellßel ,&nbsp;Daniel Flemming ,&nbsp;Helga Pelizäus","doi":"10.1016/j.seizure.2025.04.009","DOIUrl":"10.1016/j.seizure.2025.04.009","url":null,"abstract":"<div><h3>Background</h3><div>Despite an increase in incidence and prevalence of late-onset epilepsy, research on the everyday lives of the people affected is lacking. Understanding the problems and needs of this heterogeneous group of people and their already established coping strategies is essential and guides further research.</div></div><div><h3>Methods</h3><div>A scoping review following PRISMA-ScR and JBI methodology was conducted to assess the current state of research on the problems and needs of individuals with late-onset epilepsy. Studies were categorized using the World Health Organization (WHO) ICF framework. A literature search (July 2024) was carried out in Medline, CINAHL, PubPsych, and PsycInfo and included individuals aged 65+ with epilepsy, focusing on everyday life and domesticity.</div></div><div><h3>Results</h3><div>Of 1360 identified records, 14 studies were analyzed. Findings show late-onset epilepsy impairs mental and physical function. The condition can be life-changing, affecting mobility, independence, and social relationships, often leading to isolation and dependence. Managing late-onset epilepsy extends beyond seizure control, necessitating coping strategies, support, effective communication, and addressing comorbidities and seizure unpredictability. The environmental factors influencing late-onset epilepsy include diagnostic tools, treatment options, informal and professional support, attitudes, and care with improved communication and education.</div></div><div><h3>Conclusion</h3><div>Our scoping review suggests that a multidisciplinary, patient-centered approach is essential to address the substantial mental, physical, and social challenges posed by late-onset epilepsy. This includes enhanced education for patients and healthcare providers, improved communication, and targeted interventions to manage comorbidities, reduce stigma, and improve overall quality of life (QoL).</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 88-107"},"PeriodicalIF":2.7,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143852243","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":"Super-rapid titration of vagus nerve stimulation in a patient with DEPDC5-related drug-resistant epilepsy","authors":"Javier Peña-Ceballos ,&nbsp;Breege Staunton-Grufferty ,&nbsp;Nicola Dempsey ,&nbsp;Ming-Sheng Lim ,&nbsp;Patrick B. Moloney ,&nbsp;Ronan D. Kilbride ,&nbsp;Hany El Naggar ,&nbsp;Donncha O'Brien ,&nbsp;Norman Delanty ,&nbsp;David Lewis-Smith","doi":"10.1016/j.seizure.2025.04.007","DOIUrl":"10.1016/j.seizure.2025.04.007","url":null,"abstract":"<div><div>Pathogenic mutations in <em>DEPDC5</em> are responsible for a broad range of focal lesional and non-lesional epilepsies. Drug resistance and normal structural neuroimaging findings are common in more than half of patients. Neuromodulation techniques like vagus nerve stimulation (VNS) might be particularly attractive for those patients who are less likely to have a good outcome from surgical resection due to normal neuroimaging or whose epileptogenic zone involves eloquent regions, which if disrupted by resection could leave new deficits. Here, we report the <em>super-rapid</em> titration of stimulation, starting on the day of implantation, of a VNS Model 1000 without complications in an 18-year-old woman with drug-resistant non-lesional <em>DEPDC5</em>-related focal epilepsy experiencing very frequent seizures. This achieved ≥50 % seizure reduction, allowing reduction of the burden of medication.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 84-87"},"PeriodicalIF":2.7,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143838968","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 diagnosis and prediction algorithm for juvenile myoclonic epilepsy based on clinical and quantitative EEG features","authors":"Yibo Zhao ,&nbsp;Qi Wang ,&nbsp;Zhe Ren ,&nbsp;Bin Wen ,&nbsp;Ying Li ,&nbsp;Na Wang ,&nbsp;Bin Wang ,&nbsp;Ting Zhao ,&nbsp;Yanan Chen ,&nbsp;Pan Zhao ,&nbsp;Mingmin Li ,&nbsp;Zongya Zhao ,&nbsp;Beijia Cui ,&nbsp;Jiuyan Han ,&nbsp;Yang Hong ,&nbsp;Xiong Han","doi":"10.1016/j.seizure.2025.04.006","DOIUrl":"10.1016/j.seizure.2025.04.006","url":null,"abstract":"<div><h3>Objective</h3><div>To develop an objective ensemble machine learning model combining clinical features and quantitative EEG metrics (phase locking value [PLV] and multiscale sample entropy [MSE]) to support accurate diagnosis of juvenile myoclonic epilepsy (JME).</div></div><div><h3>Methods</h3><div>A total of 75 JME patients, 51 frontal lobe epilepsy (FLE) patients, and 30 normal controls were included. Eight clinical features, along with 684 PLV and 152 MSE features derived from EEG data, were extracted. Four models were constructed using ensemble XGBoost and GBDT classifiers, with performance evaluated through accuracy, precision, recall, F1-score, and AUC. The performance of these models was assessed using a five-fold cross-validation method. The Fisher Score method ranked the most influential features in the best-performing model.</div></div><div><h3>Results</h3><div>The combined model (clinical, PLV, and MSE features) achieved an accuracy of 85.26 % and an AUC of 0.97. Key features included specific PLV metrics and family history of epilepsy. Notably, the PLV of Fp2-O1 in the δ band (δ-PLV_Fp2-O1) significantly differed among JME, FLE, and normal controls.</div></div><div><h3>Conclusion</h3><div>The ensemble model effectively distinguished JME, and highlighted δ-PLV_Fp2-O1 as a potential distinguishing feature, paving the way for more objective diagnostic approaches.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 59-69"},"PeriodicalIF":2.7,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143823806","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":"Levetiracetam-induced seizure aggravation-case series and literature review","authors":"Tal Friedman-Korn ,&nbsp;Tal Benoliel-Berman ,&nbsp;Diya Doufish ,&nbsp;Tzlil Shifman ,&nbsp;Mordekhay Medvedovsky ,&nbsp;Dana Ekstein","doi":"10.1016/j.seizure.2025.04.005","DOIUrl":"10.1016/j.seizure.2025.04.005","url":null,"abstract":"<div><h3>Purpose</h3><div>Levetiracetam (LEV) is often a first-line epilepsy treatment due to its broad efficacy and favorable side effect profile. While LEV-induced seizure aggravation (LISA) has been reported in up to 18 % of LEV users in certain patient populations, the risk factors for LISA have not been well delineated. This study aims to provide a comprehensive assessment of seizure aggravation associated with LEV.</div></div><div><h3>Methods</h3><div>We conducted a comprehensive literature review of LISA case reports and case series. Additionally, we report a case series of seven patients treated at Hadassah Medical Center from 2015 to 2025 who experienced LISA.</div></div><div><h3>Results</h3><div>Our literature review identified 26 papers comprising 143 patient descriptions of LISA. Patients were 9 months to 80 years old, and seizure aggravation manifested as increased seizure frequency, status epilepticus, and the appearance of non-habitual seizures. Patients had both focal and generalized epilepsy, secondary to a variety of underlying lesion, and genetic mutation. LEV dosing ranged from 500 to 4500 mg per day. All patients in our case series experienced increased seizure frequency during LEV treatment, with two patients developing epilepsia partialis continua. Reducing or stopping LEV decreased seizures, sometimes leading to seizure freedom.</div></div><div><h3>Conclusion</h3><div>We found that LISA can occur across different age groups, epilepsy types and underlying etiologies. Clinicians should consider LISA in the differential diagnosis of seizure exacerbation following LEV treatment and evaluate the potential benefits of LEV discontinuation. Further studies are needed to determine the occurrence and risk factors of LISA to optimize ASM treatment.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 77-83"},"PeriodicalIF":2.7,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143838967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors influencing neurologists' prescribing of antiseizure medication: The role of physician biography and patient characteristics","authors":"Jenny Stritzelberger ,&nbsp;Katrin Walther ,&nbsp;David Olmes ,&nbsp;Stephanie Gollwitzer ,&nbsp;Tamara M. Welte ,&nbsp;Johannes D. Lang ,&nbsp;Caroline Reindl ,&nbsp;Stefan Schwab ,&nbsp;Peter Kriwy ,&nbsp;Hajo M. Hamer","doi":"10.1016/j.seizure.2025.04.004","DOIUrl":"10.1016/j.seizure.2025.04.004","url":null,"abstract":"<div><h3>Objective</h3><div>Although committed to equal treatment, physicians may be influenced by various non-medical factors when deciding how to treat patients and allocate treatment costs. This study examines how biographical factors and patient characteristics influence physicians’ decisions in the context of antiseizure medication (ASM) prescriptions.</div></div><div><h3>Methods</h3><div>We re-analysed a cohort from a previous factorial study focusing on physicians’ characteristics. Vignettes showed a fictitious person with epilepsy (PWE) receiving a fictitious ASM. The characteristics of the PWE, the ASM and the epilepsy varied. We asked neurologists to rate the likelihood that they would prescribe the drug to the patient, and to complete a survey on personal characteristics (including age, sex, living situation, professional experience and contact with PWE).</div></div><div><h3>Results</h3><div>46 neurologists (age 37.1 ± 9.6 years, 65.2 % female) completed the questionnaire. Neurologists who rated themselves as being in the best possible health state or who had private contact with PWE were more likely to prescribe ASM.</div></div><div><h3>Conclusion</h3><div>Neurologists’ biographies and experiences influenced their decisions about the likelihood of prescribing ASM therapy.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 55-58"},"PeriodicalIF":2.7,"publicationDate":"2025-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143823816","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":"Diagnostics and Non-pharmacological interventions for refractory and super refractory status epilepticus in Germany: A comprehensive analysis of 4 years of billing data","authors":"Larissa Fink ,&nbsp;Berthold Voges ,&nbsp;Marcel A. Kamp ,&nbsp;Christiane von Saß ,&nbsp;Maxine Dibué","doi":"10.1016/j.seizure.2025.04.003","DOIUrl":"10.1016/j.seizure.2025.04.003","url":null,"abstract":"<div><h3>Background</h3><div>Status epilepticus (SE) is a critical neurological emergency, with its most severe form, refractory status epilepticus (RSE) and super-refractory status epilepticus (SRSE), posing significant treatment challenges and high mortality rates. Despite robust early-phase treatment evidence, effective management of RSE and SRSE remains less defined.</div></div><div><h3>Objective</h3><div>This study aimed to assess the incidence of potential RSE and SRSE in Germany from 2019 to 2022, evaluate diagnostic and non-pharmacological interventions, and analyze associated healthcare costs.</div></div><div><h3>Methods</h3><div>A cross-sectional retrospective analysis was conducted using data from the Institute for the Hospital Remuneration System (InEK). Cases were identified using ICD-10 code G41 and included patients who underwent mechanical ventilation for at least one hour. Data on demographics, diagnostic procedures, therapeutic interventions, discharge outcomes, and healthcare costs were extracted and analyzed.</div></div><div><h3>Results</h3><div>Between 2019 and 2022, 89,921 SE cases were identified, with 21,729 (24.2 %) progressing to potential RSE or SRSE. Male patients comprised 56 % of these cases. The majority of cases occurred in patients aged 65–74 years. The overall mortality or hospice transfer rate for potential RSE/SRSE cases was 33.7 %. Common diagnostic procedures included EEG (80 %) and CT scans (113 %), while non-pharmacological interventions such as hypothermia therapy were used in 10 % of cases, and plasmapheresis was employed in 1 %. Electroconvulsive therapy, vagus nerve stimulation, deep brain stimulation, transcranial magnetic stimulation, ketogenic diet, resection of foreign tissue from the brain, and epilepsy surgery were not performed at all. 4 % of the patients who died in the hospital or were discharged to a hospice received interventions in a palliative care setting. The total estimated cost for potential RSE/SRSE cases in 2022 was approximately €44.24 million, highlighting the economic burden on the healthcare system.</div></div><div><h3>Conclusion</h3><div>The study underscores the need for improved diagnostic and therapeutic strategies in managing RSE and SRSE. It also calls for exploration of non-pharmacological treatments to reduce the high mortality and economic costs associated with these conditions. Further research is essential to establish evidence-based protocols for RSE and SRSE management.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 108-114"},"PeriodicalIF":2.7,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143864709","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":"What extent of adverse drug reactions seems acceptable for what degree of seizure reduction in paediatric patients with epilepsy?—An exploratory study on the parents' perspective","authors":"Martina P. Neininger ,&nbsp;Esther Meise ,&nbsp;Sarah Jeschke ,&nbsp;Samuel Tomczyk ,&nbsp;Silke Schmidt-Schuchert ,&nbsp;Thilo Bertsche ,&nbsp;Astrid Bertsche","doi":"10.1016/j.seizure.2025.04.002","DOIUrl":"10.1016/j.seizure.2025.04.002","url":null,"abstract":"<div><div>Purpose We aimed to explore the perspectives of parents of children with epilepsy regarding the extent of adverse drug reactions (ADRs) of antiseizure medications (ASMs) they are willing to accept for a certain degree of seizure reduction.</div><div>Methods We presented a table showing two levels of the likelihood of occurrence (low/high) and two levels of severity (mild/severe) for a number of ADRs including irritability, impairment of attention, and fatigue. For each combination of likelihood and severity, 98 parents were asked to indicate the degree of seizure reduction for which they were willing to accept the given ADR.</div><div>Results Even in exchange for seizure-freedom, severe irritability occurring with a high likelihood was unacceptable to 53 % of parents. This applied to 51 % concerning impairment of attention, and to 40 % concerning fatigue. At 50 % seizure reduction, 2 % of parents were willing to accept a high likelihood of occurrence of severe irritability. This applied to 5 % of parents concerning impairment of attention, and 9 % of parents concerning fatigue. With regard to mild forms of ADRs very likely to occur, 16 % of parents considered impairment of attention to be unacceptable despite seizure freedom; this applied to 12 % of parents for irritability, and 6 % of parents for fatigue.</div><div>Conclusion Even for seizure freedom or a major reduction in seizures, parents often refused to accept ADRs. Therefore, it is important to consider the parents’ perspective when choosing an ASM, and to find the optimal balance between desired effectiveness and ADRs acceptable to parents and paediatric patients.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 29-32"},"PeriodicalIF":2.7,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143785220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Stereoelectroencephalography versus subdural electrodes for invasive monitoring of drug-resistant epilepsy patients: a systematic review and meta-analysis","authors":"Fernando Cotrim Gomes ,&nbsp;Anna Laura Lima Larcipretti ,&nbsp;Ofonime Chantal Udoma-Udofa ,&nbsp;Bárbara Alves de Abreu Rocha ,&nbsp;Maria Eduarda Bezerra Mota ,&nbsp;Mateus Machado Decina ,&nbsp;Júlia Oliveira Dabien Haddad ,&nbsp;Matheus de Andrade Bannach ,&nbsp;Niels Pacheco-Barrios ,&nbsp;John D. Rolston","doi":"10.1016/j.seizure.2025.04.001","DOIUrl":"10.1016/j.seizure.2025.04.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Invasive monitoring for epilepsy surgery is critical for localizing epileptogenic zones. Stereoelectroencephalography (SEEG) and subdural electrodes (SDE) are two primary techniques used for this purpose. This meta-analysis aims to compare the effectiveness and safety of SEEG and SDE regarding various clinical outcomes in patients undergoing invasive epilepsy monitoring.</div></div><div><h3>Methods</h3><div>We conducted a systematic review and meta-analysis of studies comparing SEEG and SDE for invasive epilepsy monitoring. PubMed, Embase, and Cochrane Library databases were searched for relevant studies. Two reviewers performed data extraction and quality assessment through Cochrane's ROBINS-I tool independently. Statistical analyses were conducted using a random-effects model in R Studio.</div></div><div><h3>Results</h3><div>A total of 16 studies involving 3751 patients were included in the analysis, with 1750 who underwent SDE and 2001 in the SEEG group. There was no statistically significant difference between groups regarding seizure freedom at last follow-up (OR 1.05; 95 % CI 0.61–1.81; I2 = 56 %; <em>p</em> = 0.86). The SEEG group, however, was associated with lower incidence of complications (OR 0.50; 95 %CI 0.28, 0.91; I² 74 %; <em>p</em> &lt; 0.01), fewer major bleeding events (OR 0.23; 95 %CI 0.11, 0.49; I² 0 %; <em>p</em> &lt; 0.01), fewer post-operative neurological deficits (OR 0.39; 95 %CI 0.21, 0.73; I² 23 %; <em>p</em> &lt; 0.05), and shorter operative time (MD -76.28 min; 95 %CI -101.86, -50.70; I² 92 %; <em>p</em> &lt; 0.05).</div></div><div><h3>Conclusion</h3><div>SEEG and SDE are both effective in achieving seizure freedom for drug-resistant epilepsy patients undergoing invasive monitoring. SEEG may offer advantages in terms of safety and healthcare utilization, with fewer complications and shorter operative times. These findings support the growing adoption of SEEG as a preferred method for epilepsy surgery, though further prospective studies are needed to validate these results.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 33-41"},"PeriodicalIF":2.7,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143799688","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 real-world comparison between the diagnostic yield of trio-whole exome sequencing and proband-only targeted exome sequencing in complex childhood epilepsy","authors":"Alfiya Fasaludeen ,&nbsp;Manna Jose ,&nbsp;Aswathi U ,&nbsp;Surabhi Prasannakumar ,&nbsp;Moinak Banerjee ,&nbsp;Soumya Sundaram ,&nbsp;Madhusoodanan UK ,&nbsp;Ashalatha Radhakrishnan ,&nbsp;Ramshekhar N Menon","doi":"10.1016/j.seizure.2025.03.020","DOIUrl":"10.1016/j.seizure.2025.03.020","url":null,"abstract":"<div><h3>Purpose</h3><div>Exome sequencing is the preferred method for the molecular diagnosis of childhood drug-resistant epilepsies (DRE) of uncertain etiology, particularly the developmental and epileptic encephalopathies (DEE) with a challenge being genotype-phenotype heterogeneity. This study assesses the diagnostic utility of trio-whole exome sequencing (trio-WES) over a panel-based targeted exome sequencing (TES).</div></div><div><h3>Methods</h3><div>We performed genetic testing in 400 probands (age of onset &lt;12 years) who had been diagnosed with complex pediatric epilepsy syndromes (refractory focal/generalized epilepsies of uncertain etiology and DEE). Among the 400 probands, 158 underwent trio-WES and 242 underwent TES.</div></div><div><h3>Results</h3><div>The overall yield of pathogenic/likely pathogenic variants was similar, at 42.1 % for 242 patients who underwent TES and 42.4 % for 158 patients with trio-WES. However, among 67 disease causing variants identified by trio-WES, 67.2 % were established as <em>de novo</em> at baseline evaluation. A major highlight is that trio-WES achieved a diagnosis in 10 (35.7 %) of 28 patients with inconclusive/negative TES. The cost analysis shows that trio-WES ($534) is probably the more cost-effective method in early childhood wherein <em>de novo</em> pathogenic variants are likely to be causative, as ordering it after negative or inconclusive TES results will have an added cost.</div></div><div><h3>Conclusion</h3><div>This study demonstrates real world utility of trio-WES as a useful and cost-efficient tool for determining <em>de novo</em> genetic etiologies for unexplained childhood DRE phenotypes.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 51-54"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143823815","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}