Seizure-European Journal of Epilepsy最新文献

{"title":"A proposal for a machine-learning algorithm for the prediction of seizure recurrence risk at 2 years after discontinuation of anti-seizure medications","authors":"Margherita Contento ,&nbsp;Bruno Bertaccini ,&nbsp;Martina Biggi ,&nbsp;Matteo Magliani ,&nbsp;Ylenia Failli ,&nbsp;Marco Paganini ,&nbsp;Luca Massacesi ,&nbsp;Eleonora Rosati","doi":"10.1016/j.seizure.2025.09.020","DOIUrl":"10.1016/j.seizure.2025.09.020","url":null,"abstract":"<div><h3>Background</h3><div>This article presents a novel method to create a scale for predicting the risk of seizure recurrence 2 years after discontinuation of anti-seizure medications (ASMs). The approach enables the development of a straightforward, easily calculable score scale with a clear-cut threshold to effectively identify high-risk patients.</div></div><div><h3>Methods</h3><div>Clinical and demographic features of epileptic patients who had discontinued their ASMs were incorporated into a customized R algorithm. This algorithm evaluated each covariate and its corresponding weight to determine the combination of weighted scores creating the scale with the highest accuracy for predicting seizure recurrence risk. Moreover, the algorithm generated a threshold that differentiates between low- and high-risk patients.</div></div><div><h3>Results</h3><div>In our dataset, the 10 covariates whose combination was associated with the scale with the maximized Youden index (0.51) selected by the algorithm were: “duration of epilepsy”, “duration of the seizure-free period on therapy”, “duration of ASM tapering”, “development delay”, “age at ASM withdrawal over 50 years”, “gender”, “age at ASM withdrawal over 40 years”, “structural etiology of epilepsy”, “failure of previous ASM discontinuations”, “age at seizure onset”; The sensitivity and specificity of the scale were 0.87 and 0.64 respectively. Scale scores above 5 identify high-risk patients.</div></div><div><h3>Conclusions</h3><div>This work does not aim to propose a definitive scale to predict the risk of seizure recurrence 2 years after discontinuation of ASMs. Rather, it introduces a data-driven tool to support the development of a scale with a clear-cut threshold, easily applicable in the clinical practice and understandable to patients.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"133 ","pages":"Pages 73-79"},"PeriodicalIF":2.8,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145318728","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":"History of Lennox–Gastaut Syndrome: An electro-clinical voyage in search of an epileptic syndrome","authors":"Philippe Gélisse ,&nbsp;Arielle Crespel ,&nbsp;Pierre Genton ,&nbsp;Charlotte Dravet","doi":"10.1016/j.seizure.2025.11.001","DOIUrl":"10.1016/j.seizure.2025.11.001","url":null,"abstract":"<div><div>Lennox<strong>–</strong>Gastaut syndrome (LGS), one of the most severe childhood epileptic encephalopathies, was described stepwise in the United States and France. Gibbs (1938) and Gibbs <em>et al</em>. (1939) identified a characteristically slow spike-and-wave pattern, which they called the ‘<em>petit mal variant,</em>’ as opposed to typical spike-and-waves at 3 Hz observed in ‘<em>petit mal.</em>’ Shortly after participating in the description of this pattern, William G. Lennox reported children with 1) diffuse slow spike-and-waves, 2) mental deficiency, and 3) three seizure types with—myoclonic jerks—a variant of petit mal absences described as brief episodes of immobility—and drops of the head on the chest or of the whole body on the ground. Henri Gastaut arranged three symposia over six years in Marseille to discuss the entity conceptualized by Lennox. Charlotte Dravet’s medical dissertation (1965) was the basis of a paper published in <em>Epilepsia</em> by Gastaut <em>et al.</em> (1966), enriched with 50 new cases. Gastaut <em>et al</em>. proposed describing this epileptic syndrome under the name ‘<em>Lennox syndrome.</em>’ They preferred this designation over ‘<em>petit mal variant</em>’ because of the term's exclusive electroencephalographic significance that cannot be employed to designate a clinical syndrome. Furthermore, Henri Gastaut wanted to use the term ‘<em>Lennox syndrome</em>’ in the same manner as ‘<em>West syndrome</em>’ was used to describe infantile myoclonic encephalopathy with hypsarrhythmia. Margaret Lennox–Buchthal, daughter of William Lennox, co-chaired the second meeting dedicated to the concept developed by her father, held in Marseille in September 1966 and suggested that the syndrome be called the LGS in honor of her father’s first description, later confirmed and completed by the Marseille school. Nowadays, the clinical and EEG characteristics of the LGS are well-defined. The Marseille school stressed the importance of sleep electroencephalographic recording to highlight bilateral fast epileptic rhythms and axial tonic seizures. The eponym LGS should be restricted to a relatively homogeneous entity, clinical expression, and prognosis, with multiple possible etiologies.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"133 ","pages":"Pages 251-260"},"PeriodicalIF":2.8,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145507467","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":"Efficacy and safety of cannabidiol in children with developmental and epileptic encephalopathies: A systematic review","authors":"Anna Saranti ,&nbsp;Pinelopi Dragoumi ,&nbsp;Konstantinos Pavlogiannis ,&nbsp;Evangelos Pavlou ,&nbsp;Dimitrios Zafeiriou","doi":"10.1016/j.seizure.2025.10.001","DOIUrl":"10.1016/j.seizure.2025.10.001","url":null,"abstract":"<div><h3>Background</h3><div>Developmental and epileptic encephalopathies (DEEs) constitute rare epileptic conditions characterized by treatment-resistant seizures, neurodevelopmental delay, and various comorbidities. None of the currently available drugs have proven effective in suppressing epileptiform activity in those conditions.</div></div><div><h3>Objectives</h3><div>We aimed to assess the efficacy and safety of cannabidiol in children with DEEs through a systematic review.</div></div><div><h3>Methods</h3><div>We searched MEDLINE, Cochrane Central Register of Controlled Trials, trial registries, and reference lists of included studies. We conducted the last search on March 9, 2024. All study types investigating pharmaceutical cannabidiol in children with DEEs were considered eligible, with no language or date restrictions. Risk of bias was assessed using RoB2 and ROBINS-I V2.</div></div><div><h3>Results</h3><div>Of the 722 records identified, 14 met the inclusion criteria. The included studies varied in design and involved a total of 682 children. Cannabidiol was administered to a maximum dose of 50mg/kg/day. Almost all studies reported positive outcomes with cannabidiol, leading to a reduction of a 50% or above in seizure frequency in at least 20% of patients included in 11 studies. Adverse events were relatively common across studies and included somnolence, loss of appetite, diarrhea, fatigue, and increased serum aminotransferases. Most of them were mild to moderate and reversible.</div></div><div><h3>Conclusions</h3><div>Cannabidiol is generally well tolerated and has been shown to effectively reduce seizure frequency in children with DEEs whose seizures are refractory to concomitant antiepileptic medications. Future research should explore the long-term effects of cannabidiol on seizure control, developmental outcomes, and quality of life in this population.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"133 ","pages":"Pages 114-127"},"PeriodicalIF":2.8,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145364361","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":"Efficacy and safety of vigabatrin as preventive therapy for children with tuberous sclerosis complex: A systematic review and meta-analysis","authors":"Nagita Devi ,&nbsp;Pooja Soni ,&nbsp;Priyanka Madaan ,&nbsp;Indrasish Ray Chaudhuri ,&nbsp;Vaishakh Anand ,&nbsp;Dipika Bansal ,&nbsp;Jitendra Kumar Sahu ,&nbsp;Kollencheri Puthenveettil Vinayan ,&nbsp;Sheffali Gulati","doi":"10.1016/j.seizure.2025.10.008","DOIUrl":"10.1016/j.seizure.2025.10.008","url":null,"abstract":"<div><h3>Purpose</h3><div>Tuberous sclerosis complex (TSC) is associated with early-onset epilepsy, often leading to drug-resistant epilepsy (DRE) and developmental impairment. Preventive therapy with vigabatrin (VGB) has been proposed as a strategy to modify disease progression, but its efficacy and safety remain uncertain. This systematic review and meta-analysis aimed to evaluate the impact of preventive VGB therapy on seizure occurrence [including infantile epileptic spasms syndrome (IESS) and DRE], neurocognitive outcomes, and adverse events in infants with TSC.</div></div><div><h3>Methods</h3><div>We performed a systematic search of MEDLINE, EMBASE, Scopus, and Web of Science. Studies were eligible if they enrolled infants with TSC without prior seizures and compared preventive VGB to standard treatment. Risk of bias was assessed using the ROB 2.0 tool for randomized trials and the Newcastle-Ottawa Scale for observational studies. Meta-analyses were performed using a random-effects model, with results expressed as risk ratios (RR) or standardized mean differences (SMD) and 95 % confidence intervals (CI).</div></div><div><h3>Results</h3><div>Three studies with 149 children were included. There was reduced occurrence of seizures (including IESS and DRE) in the preventive therapy group (39/68 vs 64/81). However, the risk ratios were not statistically significant for occurrence of seizures (RR: 0.72; 95 % CI: 0.47–1.10), IESS (RR: 0.23; 95 % CI: 0.04–1.25), and DRE (RR: 0.74; 95 % CI: 0.49–1.12). Neurocognitive outcomes did not differ significantly between the two groups (SMD: 0.35; 95 % CI: -0.21– 0.91). Preventive vigabatrin was generally well-tolerated, with few adverse events and rare treatment discontinuation reported.</div></div><div><h3>Conclusion</h3><div>Preventive vigabatrin therapy may prevent the development of epilepsy, including IESS and DRE, in children with TSC, with an acceptable safety profile. Although statistical significance was not achieved, the favorable trend highlights the potential clinical benefits of early intervention with VGB. Larger, high-quality randomized trials are warranted to confirm these findings and explore the long-term neurodevelopmental outcomes.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"133 ","pages":"Pages 137-143"},"PeriodicalIF":2.8,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145364362","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 path to post-traumatic epilepsy: A review of emerging biomarkers and therapeutic targets","authors":"Soheil M. Yazdi ,&nbsp;Andres Jimenez- Gomez ,&nbsp;Alica Goldman ,&nbsp;Spyridoula Tsetsou","doi":"10.1016/j.seizure.2025.10.021","DOIUrl":"10.1016/j.seizure.2025.10.021","url":null,"abstract":"<div><h3>Background</h3><div>Post-traumatic epilepsy (PTE) is a common, disabling sequela of traumatic brain injury (TBI), contributing to long-term morbidity. Short-term antiseizure prophylaxis reduces early provoked seizures, but no interventions prevent late unprovoked seizures or PTE. This gap arises from limited understanding of underlying mechanisms.</div></div><div><h3>Objective</h3><div>This review synthesizes PTE pathophysiology and emerging mechanism-based prevention strategies, emphasizing a shift from reactive management to personalized prophylaxis.</div></div><div><h3>Evidence Synthesis</h3><div>PTE develops via epileptogenesis—a latent, multifactorial process distinct from acute seizure triggers—involving chronic neuroinflammation (e.g., IL-1β, NLRP3 pathways), blood-brain barrier dysfunction, maladaptive gliosis with glutamate dysregulation, and aberrant plasticity (e.g., mTOR signaling, interneuron loss). These insights identify targets for intervention. Promising repurposed agents include IL-1 receptor antagonists (anakinra), mTOR inhibitors (rapamycin), and glutamate modulators (ceftriaxone), with preclinical data showing reduced seizure burden. Predictive biomarkers (neuroimaging, EEG, cytokines, microRNAs) are essential for risk stratification in prophylactic trials.</div></div><div><h3>Conclusions</h3><div>The field is pivoting toward disease prevention through targeted therapies and precision medicine. Translating these advances could yield the first PTE-preventive treatment, altering TBI outcomes for survivors.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"133 ","pages":"Pages 195-201"},"PeriodicalIF":2.8,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145446311","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":"Cardiac safety of low-dose ACTH therapy in infantile spasms: Evidence from electrocardiography and advanced echocardiography","authors":"Borakay Dilek ,&nbsp;Saylan Cevik Berna ,&nbsp;Unver Olcay ,&nbsp;Doganci Demet Deniz ,&nbsp;Gunes Sager Safiye ,&nbsp;Turkdogan Dilsad","doi":"10.1016/j.seizure.2025.10.020","DOIUrl":"10.1016/j.seizure.2025.10.020","url":null,"abstract":"<div><h3>Objective</h3><div>Infantile epileptic spasms syndrome (IESS) is a catastrophic epileptic encephalopathy of infancy. While adrenocorticotropic hormone (ACTH) remains the most effective first-line therapy, its cardiac safety profile, particularly at low doses, has not been systematically evaluated. This study aimed to investigate the effects of low-dose ACTH therapy on cardiac conduction and function using electrocardiography (ECG) and advanced echocardiography.</div></div><div><h3>Methods</h3><div>This prospective controlled study included 24 infants with IESS and 24 age- and sex-matched healthy controls. All patients received low-dose ACTH (Synacthen® Depot, intramuscular; 0.5 mg/kg if &lt; 10 kg, 1 mg/kg if ≥ 10 kg; 18 injections over 8 weeks). Serial 12-lead ECGs and echocardiographic assessments, including M-mode, Doppler, tissue Doppler imaging (TDI), and speckle-tracking strain, were performed at baseline and at 2, 4, and 6 months. Controls underwent single baseline assessments.</div></div><div><h3>Results</h3><div>No patient developed overt arrhythmia or hypertension during treatment. However, ECG analysis revealed progressive prolongation of PR, QRS, QT, QTc, Tp–Te, and Tp–Te-related ratios (p &lt; 0.001). Echocardiography demonstrated significant increases in LVEDD, LVESD, LV mass, and MPI, with impaired diastolic relaxation and progressive deterioration of longitudinal and circumferential strain (p &lt; 0.05). Subgroup analyses showed no significant differences among genetic, hypoxic-ischemic, and hypoxia-related etiologies.</div></div><div><h3>Conclusion</h3><div>Even short-term, low-dose ACTH therapy is associated with subclinical conduction abnormalities and myocardial dysfunction in IESS patients. Routine cardiac monitoring, including advanced imaging modalities, should be integrated into ACTH protocols. Multidisciplinary management and larger multicenter studies are warranted to clarify the long-term cardiovascular implications of ACTH therapy in IESS.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"133 ","pages":"Pages 268-274"},"PeriodicalIF":2.8,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145520657","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":"Characteristics of epilepsy associated with hemophagocytic lymphohistiocytosis","authors":"Xue Wang,&nbsp;Hongyan Bi,&nbsp;Yingying Zhao,&nbsp;Yongbo Zhang","doi":"10.1016/j.seizure.2025.11.003","DOIUrl":"10.1016/j.seizure.2025.11.003","url":null,"abstract":"<div><h3>Objective</h3><div>Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome frequently complicated by severe neurological manifestations, including epilepsy. This study aimed to characterize the clinical phenotype, identify risk factors, and determine outcomes specific to HLH-associated epilepsy.</div></div><div><h3>Methods</h3><div>We conducted a retrospective cohort study of 76 patients with HLH, comparing those with epilepsy (<em>n</em> = 25) and those without (<em>n</em> = 51). Comprehensive clinical, laboratory, genetic, electroencephalogram, and neuroimaging data were analyzed.</div></div><div><h3>Results</h3><div>Patients with HLH-associated epilepsy were significantly younger and had a higher prevalence of primary HLH. They demonstrated a more severe inflammatory profile, marked by elevated ferritin, interleukin-6, and cerebrospinal fluid (CSF) pleocytosis. Multivariate analysis identified age ≤25 years, ferritin &gt;20,000 ng/mL, CSF pleocytosis, and evolution to cortical atrophy as independent risk factors for epilepsy. Neuroimaging revealed a characteristic \"enhancement-to-atrophy\" sequence, where acute contrast-enhancing lesions (64.0 % vs. 29.4 %) often progressed to cortical atrophy (56.0 % vs. 19.6 %), highlighting a trajectory from acute neuroinflammation to permanent structural injury. The epilepsy group had significantly poorer survival (median 19 vs. 23 months). Although systemic HLH remission was achieved, the majority of patients (68.0 %) developed refractory epilepsy, necessitating long-term antiseizure medication.</div></div><div><h3>Significance</h3><div>HLH-associated epilepsy constitutes a severe clinical entity driven by intense neuroinflammation, which frequently results in irreversible brain damage. Early identification of its hallmark features, including young age, extreme hyperferritinemia, CSF pleocytosis, and the distinctive \"enhancement-to-atrophy\" neuroimaging sequence, is crucial for prompt intervention and long-term neurological management.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"133 ","pages":"Pages 275-280"},"PeriodicalIF":2.8,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145520658","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":"Efficacy of adjunctive cenobamate by focal seizure subtypes: a randomized, double-blind, placebo-controlled, multicenter study in a multinational Asian population","authors":"Xintong Wu ,&nbsp;Ling Chen ,&nbsp;Eunyeong Choe ,&nbsp;Kyoung Heo ,&nbsp;Seung Bong Hong ,&nbsp;Koji Iida ,&nbsp;Yong Heui Jeon ,&nbsp;Jiwon Jung ,&nbsp;Marc Kamin ,&nbsp;Kensuke Kawai ,&nbsp;Ji Hyun Kim ,&nbsp;Myung Won Kim ,&nbsp;Sang Kun Lee ,&nbsp;Sunita N Misra ,&nbsp;Jungshin Park ,&nbsp;William E Rosenfeld ,&nbsp;Tiancheng Wang ,&nbsp;Takamichi Yamamoto ,&nbsp;Peimin Yu ,&nbsp;Louis Ferrari","doi":"10.1016/j.seizure.2025.09.021","DOIUrl":"10.1016/j.seizure.2025.09.021","url":null,"abstract":"<div><h3>Objectives</h3><div>To assess the efficacy of adjunctive cenobamate by seizure subtype in Asian patients with uncontrolled focal epilepsy during a 24-week controlled study (NCT04557085 [C035]).</div></div><div><h3>Methods</h3><div>Adults 18–70 years old with ≥8 focal seizures (focal aware motor [FAM], focal impaired awareness [FIA], and/or focal to bilateral tonic-clonic [FBTC]) during an 8-week baseline, despite treatment with 1–3 antiseizure medications, were randomized 1:1:1:1 to receive placebo or cenobamate 100, 200, or 400 mg/day, starting at 12.5 mg/day and uptitrated at 2-week intervals. The study design included an 18-week titration phase and a 6-week maintenance phase. Median percent change from baseline in 28-day seizure frequency and responder rates for patients with FAM, FIA, and/or FBTC seizures were assessed during the maintenance phase and during a 12-week treatment period that combined the last 6 weeks of titration and the 6-week maintenance phase.</div></div><div><h3>Results</h3><div><em>N</em> = 519 patients were randomized (maintenance phase <em>n</em> = 446, 12-week period <em>n</em> = 478). During both periods assessed, numerically greater reductions vs placebo occurred across all cenobamate doses and seizure subtypes. For cenobamate 200 and 400 mg/day, maintenance-phase median seizure frequency reductions were 76 %-100 % across all seizure subtypes; seizure-free rates were up to 52.4 % (FAM), 57.5 % (FIA), and 75.0 % (FBTC). The most common cenobamate-related treatment-emergent adverse events (≥20 %) were dizziness and somnolence.</div></div><div><h3>Conclusions</h3><div>Cenobamate reduced all focal seizure subtypes in a generally dose-response manner in adult Asian patients, including maintenance-phase seizure frequency reductions of 76 %-100 %. Notably high seizure-free rates were observed for patients with FBTC seizures, an important contributor to morbidity/mortality in focal epilepsy patients.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"133 ","pages":"Pages 43-51"},"PeriodicalIF":2.8,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145309813","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":"Enhancing diagnostic yield in functional seizures: A narrative review, design and implementation of a novel ictal testing battery for video telemetry","authors":"Elisaveta Sokolov ,&nbsp;Rohan Kandasamy ,&nbsp;Michael Kinney ,&nbsp;Nigel Lyttle ,&nbsp;Mahinda Yogarajah ,&nbsp;Beate Diehl","doi":"10.1016/j.seizure.2025.10.012","DOIUrl":"10.1016/j.seizure.2025.10.012","url":null,"abstract":"<div><div>Evaluation of behavioural impairment during functional seizures (FS) is critical for medical decision making, including accurate diagnosis, and future management recommendations. To date this type of behavioural evaluation in the setting of FS in an inpatient telemetry unit has not been closely reviewed. Here we perform a narrative review of the literature examining ictal testing and how best to improve diagnostic yield in the context of FS. We propose a novel ictal testing battery to obtain the most pertinent clinical information in people with functional seizures (PWFS). We then applied this novel ictal testing battery to patients as part of a service improvement project and compared it with the standard procedures in the video telemetry (VT) unit. This demonstrated significant improvement (Student’s T-Statistic of 2.284 and a p-value of 0.014) in the amount of FS-specific information extracted as identified in the review, suggesting that such a battery is useful and can be utilised in the VT setting.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"133 ","pages":"Pages 242-250"},"PeriodicalIF":2.8,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145477347","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":"Genotypic and phenotypic analysis of epilepsy associated with NPRL2/NPRL3 genes","authors":"Song Su ,&nbsp;Hongwei Zhang ,&nbsp;Qi Zhang ,&nbsp;Fen Zhao ,&nbsp;Wandong Hu ,&nbsp;Yong Liu ,&nbsp;Fang Fang","doi":"10.1016/j.seizure.2025.10.023","DOIUrl":"10.1016/j.seizure.2025.10.023","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Objective&lt;/h3&gt;&lt;div&gt;Summary and analysis of clinical phenotypes, genotypes, and their correlations in epilepsy patients associated with NPRL2 and NPRL3 gene variants.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Methods&lt;/h3&gt;&lt;div&gt;Retrospective analysis and statistical investigation of clinical phenotypes and genotype-phenotype correlations in children with NPRL2/NPRL3 gene variants, combining clinical data from Shandong University Affiliated Children’s Hospital and Beijing Children’s Hospital, Capital Medical University, with literature review.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;Our institution collected 8 epilepsy patients with NPRL2 variants, and 32 additional cases were identified from the literature, resulting in a total cohort of 40 patients. Among the available clinical data, 20 patients (54.3 %) were male and 16 (45.7 %) were female. The median age of seizure onset was 21.0 months (2.5–55.0 months). Twenty-five distinct variant types were identified, with nonsense variants (8/25, 32.0 %) being the most prevalent. Focal seizures were observed in 26 patients (75.8 %). Cortical developmental abnormalities Malformations of Cortical Development (MCD) were present in 15 patients (51.7 %), normal cortical structure in 12 (41.4 %), tumor in 1 (3.4 %), and hippocampal sclerosis in 1 (3.4 %). Regarding treatment, 18 patients (69.2 %) had drug-resistant epilepsy (DRE), while seizures were pharmacologically controlled in 8 (30.8 %). Thirteen patients underwent epilepsy surgery, and 8 achieved postoperative seizure freedom. Our institution collected 11 epilepsy patients with NPRL3 variants, combined with 145 cases reported in the literature, totaling 156 cases. A total of 67 variant sites and 6 variant types were identified, with frameshift variants (20/67, 29.9 %) being the most common. The cohort included 87 males (60 %) and 58 females (40 %), with a median age of onset of 48.0 months (12.0–120.0 months). Focal seizures were observed in 95 patients (79.2 %). MRI results showed normal findings in 69 patients (63.3 %) and MCD in 38 (34.9 %), including 30 cases of focal cortical dysplasia (FCD). DRE was reported in 52 patients (54.2 %), with 20 achieving seizure control through monotherapy. Twenty-nine patients underwent surgical resection, and 15 (51.7 %) achieved postoperative seizure freedom. Among 4 drug-resistant epilepsy patients treated with ketogenic diet therapy (KDT), 2 showed no response, 1 achieved seizure control, and 1 experienced recurrence after discontinuing KDT and undergoing surgery. Five patients received rapamycin therapy, with 4 showing no improvement. Comparative analysis between MCD and non-MCD groups revealed significant differences in age of onset and proportion of drug-resistant epilepsy (&lt;em&gt;P&lt;/em&gt; = 0.001, 0.033, and &lt; 0.001, respectively). When comparing NPRL2 and NPRL3 variant cohorts, significant differences were observed in age of onset (&lt;em&gt;P&lt;/em&gt; = 0.030) and presence of MCD (&lt;em&gt;P&lt;/em&gt; = 0.046). No significant differences were fou","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"133 ","pages":"Pages 208-218"},"PeriodicalIF":2.8,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145460426","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}