Seizure-European Journal of Epilepsy最新文献

{"title":"Prehospital seizure management protocols need standardized guidelines. A descriptive study from Norway","authors":"Ingrid Anette Hustad ,&nbsp;Morten Horn ,&nbsp;Marius Rehn ,&nbsp;Erik Taubøll ,&nbsp;Maren Ranhoff Hov","doi":"10.1016/j.seizure.2024.10.002","DOIUrl":"10.1016/j.seizure.2024.10.002","url":null,"abstract":"<div><h3>Background</h3><div>Patients with convulsive seizures constitute a significant group in acute neurology. No common European clinical practice guidelines on prehospital seizure management exist, and today most patients are brought to hospital for seizure treatment, with great variation in which prehospital treatment is provided. Only 33 % of status epilepticus patients receive a benzodiazepine as first anti-seizure medication (ASM). The aim of this study is to assess the prehospital seizure control protocols in the Emergency Medical Services (EMS) in Norway, and compare these with current evidence for acute management.</div></div><div><h3>Method</h3><div>We performed a descriptive analysis of the 18 regional EMS protocols in Norway and compared the findings with recent evidence on prehospital treatment. We analysed recommended drug and dosage, route of medication administration, number of additional rescue doses permitted, requirements for registration of type of seizures and seizure duration.</div></div><div><h3>Results</h3><div>The protocols vary in terms of preferred medication, administration method, dosage and recommendations regarding first- and second-line therapies. 33 % of protocols explicitly define status epilepticus according to contemporary guidelines, and 16.7 % have an operational definition of <em>when</em> to administer benzodiazepines. All protocols showed variations in dosing and administration instructions and only 28 % had a clearly stated first line treatment.</div></div><div><h3>Conclusion</h3><div>There are disparities in the prehospital seizure management protocols within the Norwegian healthcare system, a system comparable to other European countries. To improve seizure management there is a need for standardised guidelines for prehospital treatment.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"123 ","pages":"Pages 92-96"},"PeriodicalIF":2.7,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631283","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":"Acute effects of Mozart K.448 on interictal epileptiform discharges in adult patients with drug-resistant focal epilepsy: A crossover randomized controlled trial","authors":"Somjet Tosamran ,&nbsp;Thanaporn Pakotiprapha ,&nbsp;Thtiwat Asavalertpalakorn ,&nbsp;Thanakorn Kiatprungvech ,&nbsp;Totsapol Surawattanawong ,&nbsp;Chusak Limotai","doi":"10.1016/j.seizure.2024.10.016","DOIUrl":"10.1016/j.seizure.2024.10.016","url":null,"abstract":"<div><h3>Background</h3><div>This study aimed to validly assess the efficacy of Mozart K.448 on reducing interictal epileptiform discharges (IEDs) in adult patients with drug-resistant focal epilepsy (DRE).</div></div><div><h3>Methods</h3><div>This is a crossover RCT study. Adults with DRE were included. Stratified 1:1 randomization by epileptic foci i.e., temporal versus extratemporal foci, was performed. Intervention consisted of two study arms i.e., “Mozart arm” and “Control arm”. Study period encompassed 2 consecutive nights, each night consisted of baseline and intervention period. Outcomes were IED number and proportion of patients with significant IED reduction i.e., reduction ≥ 25 %. Within-group, within-subject and between-group analyses were used to test differences of IED number when listened to the Mozart piece as compared with baseline or with Control.</div></div><div><h3>Results</h3><div>Twenty-six patients were randomized; 13 in Mozart and 13 in Control arm. Overall, 16 (61.54 %) out of 26 patients had significant IED reduction when listening to the Mozart piece, as compared with only 7 (26.92 %) when continuing sleep (silence). Between-group analysis showed that IED number during intervention period i.e., listening to the Mozart piece in Mozart arm and silence in Control arm was significantly different, with a lower number in Mozart arm, 39.5 (IQR 89) vs 56.5 (IQR 114); <em>p</em> = 0.007.</div></div><div><h3>Conclusions</h3><div>Our study demonstrates an acute effect of the Mozart K.448 on reducing IEDs in adult patients with DRE. Patients with temporal rather than extratemporal lobe epilepsy better responded to the Mozart piece. Mozart K.448 is safe and feasible in real practice. Further RCT study assessing its long-term effect is warranted.</div></div><div><h3>Trial registration</h3><div>Thai Clinical Trials Registry, TCTR20231019005, 19 October 2023, “retrospectively registered”</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"123 ","pages":"Pages 66-73"},"PeriodicalIF":2.7,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142607253","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":"Unraveling the connection: Insights into SARS-CoV-2 vaccines and status epilepticus","authors":"Fedele Dono ,&nbsp;Michelangelo Dasara ,&nbsp;Giacomo Evangelista ,&nbsp;Stefano Sensi","doi":"10.1016/j.seizure.2024.10.015","DOIUrl":"10.1016/j.seizure.2024.10.015","url":null,"abstract":"","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"123 ","pages":"Pages 49-50"},"PeriodicalIF":2.7,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142536084","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":"Intensive treatment course to identify pseudoresistant epilepsy and expedite surgery referrals - A prospective intervention study","authors":"Line Harboe ,&nbsp;Ole Abildgaard Hansen ,&nbsp;Maria Kjerside Døssing ,&nbsp;Marianne Juel Kjeldsen ,&nbsp;Christoph Patrick Beier","doi":"10.1016/j.seizure.2024.10.008","DOIUrl":"10.1016/j.seizure.2024.10.008","url":null,"abstract":"<div><h3>Introduction</h3><div>A significant proportion of patients do not achieve seizure freedom despite treatment attempts with two different anti-seizure medications (ASMs). A subset may not truly have drug-resistant epilepsy (“pseudoresistant”), while rapid referral of patients with genuine drug-resistant epilepsy to surgery is mandated. This study was designed to evaluate a structured and intensive treatment course with the objective of promptly identifying cases of pseudoresistance and accelerating the time to referral to epilepsy surgery.</div></div><div><h3>Methods</h3><div>From May 2017 to February 2021, this prospective interventional study recruited consecutive adult patients with epilepsy treated at Odense University Hospital, Denmark, who had at least one seizure per month despite attempts with two or more ASMs. The predefined endpoint was improvement in seizure activity. Secondary endpoints were referral to epilepsy surgery, patients with pseudoresistance, and achievement of seizure freedom.</div></div><div><h3>Results</h3><div>Of the 41 patients enrolled, 39 completed the study. The intervention comprised a initial seizure documentation, specialist evaluation, EEG monitoring as required, and an individualized plan for intensive treatment. The plans included e.g., optimization of medical treatment, seizure classification, and improvement of medication adherence. The subsequent intensive treatment (1–4 contacts/month; 1–13 contacts in total) was led by epilepsy nurses that executed the treatment plan. The intervention significantly improved seizure control, with 41.1 % of patients achieving seizure freedom and an additional 17.8 % of patients experiencing reduced seizure frequency. One-third of the patients turned out to be “pseudoresistant” due to various reasons, including wrong classification of seizures and inadequate adherence to ASMs. Ten patients were offered a referral for epilepsy surgery at the end of the study after an average of 34.8 weeks.</div></div><div><h3>Conclusion</h3><div>This study demonstrates the efficacy of a standardized, intensive treatment course involving epilepsy nurses in identifying and managing patients with persisting seizures despite treatment attempts with two ASMs. This approach led to favourable seizure outcomes and facilitated expedited referrals for epilepsy surgery where appropriate.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"123 ","pages":"Pages 51-56"},"PeriodicalIF":2.7,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142565266","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":"Association of blood count–derived immunoinflammatory makers and risk of epilepsy: A prospective cohort of 497,291 participants","authors":"Qinlian Huang ,&nbsp;Zhihan Zhang ,&nbsp;Rui Fan ,&nbsp;Shiyi Liu ,&nbsp;Wei Zheng ,&nbsp;Fei Xiao","doi":"10.1016/j.seizure.2024.10.006","DOIUrl":"10.1016/j.seizure.2024.10.006","url":null,"abstract":"<div><h3>Objective</h3><div>To explore the longitudinal association between blood count-derived immunoinflammatory markers and the risk of epilepsy in a large population cohort.</div></div><div><h3>Methods</h3><div>We used data from the UK Biobank (UKB) to investigate the association between pre-diagnostic peripheral immunoinflammatory cells and their derived ratios, including the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), lymphocyte-to-monocyte ratio (LMR), systemic immune-inflammation index (SII), and the risk of epilepsy. This was a longitudinal cohort study in which multivariate Cox proportional hazards models and a series of sensitivity and subgroup analyses were performed to explore the nature of these associations.</div></div><div><h3>Results</h3><div>We examined these associations in a prospective UKB cohort of 497,291 participants. During a median follow-up of 12.43 years, 2,715 participants developed epilepsy. After adjusting for all covariates, the results showed that higher monocyte counts and some blood count-derived immunoinflammatory metrics (monocyte counts, hazard ratio [HR]=1.093, 95 % confidence interval [CI] 1.052–1.136, <em>P</em> <em>&lt;</em> <em>0.001</em>; NLR, HR=1.062, 95 % CI 1.022–1.103, <em>P</em> <em>=</em> <em>0.002</em>; PLR, HR=1.096, 95 % CI 1.055–1.139, <em>P</em> <em>&lt;</em> <em>0.001</em>; SII, HR=1.041, 95 % CI 1.003–1.082, <em>P</em> <em>=</em> <em>0.036</em>) were associated with an increased risk of epilepsy. Conversely, we found that higher lymphocyte counts and LMR were negatively associated with the risk of epilepsy (lymphocyte count, HR=0.889, 95 % CI 0.856–0.923, <em>P</em> &lt; <em>0.001</em>; LMR, HR=0.85, 95 % CI 0.82–0.881, <em>P</em> &lt; <em>0.001</em>).</div></div><div><h3>Conclusions</h3><div>Monocyte count, NLR, PLR, and SII increased the risk of epilepsy, whereas lymphocyte count and LMR decreased it. Further studies will help translate these findings into clinical practice or targeted treatments.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"123 ","pages":"Pages 9-16"},"PeriodicalIF":2.7,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142479027","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":"Facial infiltrating lipomatosis with contralateral hemimegalencephaly","authors":"Hongrui Chen ,&nbsp;Bin Sun ,&nbsp;Chen Hua ,&nbsp;Xiaoxi Lin","doi":"10.1016/j.seizure.2024.10.010","DOIUrl":"10.1016/j.seizure.2024.10.010","url":null,"abstract":"","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"123 ","pages":"Pages 34-36"},"PeriodicalIF":2.7,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142511659","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":"Neurological care and outcomes in a cohort of Canadian pregnant patients with epilepsy","authors":"Julien Hébert ,&nbsp;Sharon Ng ,&nbsp;Yajur Iyengar ,&nbsp;Sabrina S.-W. Chan ,&nbsp;John W. Snelgrove ,&nbsp;Esther Bui","doi":"10.1016/j.seizure.2024.10.001","DOIUrl":"10.1016/j.seizure.2024.10.001","url":null,"abstract":"<div><h3>Purpose</h3><div>To characterize anti-seizure medication (ASM) use over time, therapeutic drug monitoring, ASM dose adjustments and gestational seizure frequency among Canadian people with epilepsy of childbearing potential seen in an urban tertiary care center.</div></div><div><h3>Methods</h3><div>Participants were retrospectively identified from the medical records of pregnant patients with epilepsy seen at the University Health Network Comprehensive Epilepsy Program between 2014 and 2021. A descriptive analysis of outcomes, a logistic regression analysis of the odds of patients being on three ASMs associated with higher rates of teratogenicity (i.e., valproate, carbamazepine, and topiramate) over time, and a second logistic regression for predictors of seizure freedom during pregnancy were performed.</div></div><div><h3>Results</h3><div>195 pregnancies were included: 52 % had a maternal diagnosis of generalized epilepsy and 92 % were prescribed at least one ASM, with 75 % on monotherapy. The majority underwent therapeutic drug monitoring (77 %) with approximately two-thirds requiring dose adjustments (69 %), typically dosage increases (82 %). The proportion of patients on either valproate, topiramate, or carbamazepine decreased over time (OR=0.80; <em>p</em> <em>&lt;</em> <em>0.01</em>). Fifty-seven percent of pregnancies maintained seizure freedom, with seizure-freedom for ≥1 year prior to conception being the strongest predictor of this outcome (OR of gestational seizure recurrence=0.04; <em>p</em> &lt; 0.01).</div></div><div><h3>Conclusion</h3><div>The proportion of patients on three ASMs associated with higher rates of teratogenicity has decreased over the duration of this study. Seizure-freedom prior to conception was associated with a decreased risk of gestational seizure recurrence.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"123 ","pages":"Pages 60-65"},"PeriodicalIF":2.7,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142593545","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":"Exploration of the potential association between newer antiseizure medications and arrhythmias: Integrating pharmacovigilance and bioinformatics evidence","authors":"Jianxing Zhou ,&nbsp;Zhenhui Chen ,&nbsp;Mengjun Zhang ,&nbsp;Yanrong Ye ,&nbsp;Yun Shen ,&nbsp;Xuemei Wu","doi":"10.1016/j.seizure.2024.10.011","DOIUrl":"10.1016/j.seizure.2024.10.011","url":null,"abstract":"<div><h3>Introduction</h3><div>Arrhythmias resulting from newer antiseizure medications (ASMs) may significantly impact the safety and quality of life of patients with epilepsy. This study investigated the potential association between new first-line or second-line ASMs and arrhythmias.</div></div><div><h3>Methods</h3><div>Pharmacovigilance analysis was conducted using data from the Food and Drug Administration Adverse Event Reporting System (FAERS) from 2004 to 2023. A disproportionality analysis was performed to compare newer ASMs with other drugs, using carbamazepine and valproate as positive controls. Newer ASMs were categorized into sodium channel (SCN) main mechanism, SCN possible mechanism, and non-SCN group. The bioinformatics analysis involved retrieving therapeutic gene targets for ASMs from the DrugBank and OMIM databases, as well as identifying arrhythmia disease targets from the GeneCards database. Additionally, enrichment analysis of gene ontology functions and KEGG pathways was conducted.</div></div><div><h3>Results</h3><div>A total of 3,457 cases of arrhythmias associated with newer ASMs were identified in the FAERS database. Disproportionality analysis indicates that brivaracetam (IC025 = 0.08), zonisamide (IC025 = 0.13), eslicarbazepine (IC025 = 0.39), and lacosamide (IC025 = 0.84) exhibited a positive signal for arrhythmias, with signals predominantly observed in the SCN main mechanism group. Furthermore, bioinformatics analysis revealed the involvement of adrenergic signaling in cardiac myocytes, as well as the participation of sodium channel genes in ASM-induced arrhythmias.</div></div><div><h3>Conclusion</h3><div>Our findings suggest a potential association between SCN-ASMs and arrhythmias, highlighting the importance of monitoring and evaluating the safety profiles of newer ASMs in clinical practice. Further research is necessary to elucidate the underlying mechanisms and inform patient care strategies.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"123 ","pages":"Pages 26-33"},"PeriodicalIF":2.7,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142511658","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":"CCDC22 variants caused X-linked focal epilepsy and focal cortical dysplasia","authors":"Yu-Lei He ,&nbsp;Yi-Chen Ye ,&nbsp;Peng-Yu Wang ,&nbsp;Xiao-Yu Liang ,&nbsp;Yu-Jie Gu ,&nbsp;Si-Qi Zhang ,&nbsp;Dong-Qian Han ,&nbsp;Qi Chi ,&nbsp;Wen-Hui Liu ,&nbsp;Peng Zhou ,&nbsp;Qiong-Xiang Zhai ,&nbsp;Bing-Mei Li ,&nbsp;Yong-Hong Yi ,&nbsp;Sheng Luo ,&nbsp;Heng Meng ,&nbsp;China Epilepsy Gene 1.0 Project","doi":"10.1016/j.seizure.2024.10.007","DOIUrl":"10.1016/j.seizure.2024.10.007","url":null,"abstract":"<div><h3>Background</h3><div>The <em>CCDC22</em> gene plays vital roles in regulating the NF-κB pathway, an essential pathway for neuroinflammation, neurodevelopment, and epileptogenesis. Previously, variants in <em>CCDC22</em> were reported to be associated with intellectual disability. This study aimed to explore the association between <em>CCDC22</em> and epilepsy.</div></div><div><h3>Methods</h3><div>Trios-based whole-exome sequencing (WES) was performed in a cohort of patients with epilepsy of unknown cause recruited from the China Epilepsy Gene 1.0 Project. Damaging effects of variants were analysed using protein modelling.</div></div><div><h3>Results</h3><div>Hemizygous missense <em>CCDC22</em> variants were identified in three unrelated cases. These variants had no hemizygous frequencies in controls. All missense variants identified in this study were predicted to be “damaging” by multiple <em>in silico</em> tools and to alter the hydrogen bonds with surrounding residues and/or protein stability. The three patients presented with focal epilepsy of varying severity, including one with refractory seizures and focal cortical dysplasia (FCD) and two with seizures responding to antiseizure medicine. Notably, the variant associated with the severe phenotype was located in the coiled-coil domain and predicted to alter hydrogen bonding and protein stability, whereas the two variants associated with mild epilepsy were located outside functional domains and had moderate molecular alterations. Analysis of spatiotemporal expression indicated that <em>CCDC22</em> was expressed in brain subregions with three peaks in the fetal stage, infancy, and early adulthood, especially in the fetal stage, explaining the occurrence of developmental abnormities.</div></div><div><h3>Significance</h3><div><em>CCDC22</em> variants are potentially associated with X-linked focal epilepsy and FCD. The molecular subregional effects supported the occurrence of FCD.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"123 ","pages":"Pages 1-8"},"PeriodicalIF":2.7,"publicationDate":"2024-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142479028","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":"Therapeutic implications of etiology-specific diagnosis of early-onset developmental and epileptic encephalopathies (EO-DEEs): A nationwide Turkish cohort study","authors":"Seda Kanmaz ,&nbsp;Hasan Tekgul ,&nbsp;Hulya Kayilioglu ,&nbsp;Yavuz Atas ,&nbsp;Pinar Ozkan Kart ,&nbsp;Nihal Yildiz ,&nbsp;Hakan Gumus ,&nbsp;Kursad Aydin","doi":"10.1016/j.seizure.2024.09.021","DOIUrl":"10.1016/j.seizure.2024.09.021","url":null,"abstract":"<div><h3>Objective</h3><div>To evaluate the etiology-specific diagnosis of early-onset developmental epileptic encephalopathies (EO-DEEs) in a nationwide Turkish cohort to determine the implications for therapeutic management.</div></div><div><h3>Methods</h3><div>The cohort comprised 1450 patients who underwent EO-DEE. The utility of genetic testing was assessed with respect to the initial phases of next generation sequencing (NGS) (2005–2013) and the current NGS era (2014–2022). A predefined four-stepwise diagnostic model was evaluated using cost-effectiveness analysis. The diagnostic and potential therapeutic yields of the genetic tests were subsequently determined.</div></div><div><h3>Results</h3><div>Gene-related EO-DEEs were identified in 48.3 % (<em>n</em> = 701) of the cohort: non-structural genetic (62.6 %), metabolic genetic (15.1 %), and structural genetic (14.1 %). The most common nonstructural genetic variants were <em>SCN1A</em> (<em>n</em> = 132, 18.8 %), <em>CDKL5</em> (<em>n</em> = 30, 4.2 %), <em>STXBP1</em> (<em>n</em> = 21, 2.9 %), <em>KCNQ2</em> (<em>n</em> = 21, 2.9 %), and <em>PCDH19</em> (<em>n</em> = 17, 2.4 %). The rate of ultra-rare variants (&lt; 0.5 %) was higher in the NGS era (52 %) than that in the initial phase (36 %). The potential therapeutic yields with precision therapy and antiseizure drug modification were defined in 34.5 % and 56.2 % in genetic-EO-DEEs, respectively. The diagnostic model provided an etiology-specific diagnosis at a rate of 78.7 %: structural (nongenetic) (31.4 %), genetic (38.5 %), metabolic (6.1 %), and immune-infectious (2.8 %). Based on a cost-effectiveness analysis, the presented diagnostic model indicated the early implementation of whole-exome sequencing for EO-DEEs.</div></div><div><h3>Significance</h3><div>In the present cohort, the higher rate (48.3 %) of gene-related EO-DEE diagnoses in the NGS era provides a potential therapeutic management plan for more patients.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"123 ","pages":"Pages 17-25"},"PeriodicalIF":2.7,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142511661","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}