Epilepsia最新文献

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Long-read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms. 癫痫中复发性FGF12重复的长读测序:对结构机制和异常亚型的见解。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-08-21 DOI: 10.1111/epi.18609
Jade Fauqueux, Laurence Chaton, Pierre Cleuziou, Anne-Sophie Diependaële, Nathalie Bach, Nicolas Gruchy, Marion Gerard, Jean-Pascal Meneboo, Céline Villenet, Martin Figeac, Emilie Ait-Yahya, Caroline Thuillier, Elise Boudry, Adeline Trauffler, Sylvie Nguyen-The-Tich, Simon Boussion, Roseline Caumes, Jamal Ghoumid, Thomas Smol
{"title":"Long-read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms.","authors":"Jade Fauqueux, Laurence Chaton, Pierre Cleuziou, Anne-Sophie Diependaële, Nathalie Bach, Nicolas Gruchy, Marion Gerard, Jean-Pascal Meneboo, Céline Villenet, Martin Figeac, Emilie Ait-Yahya, Caroline Thuillier, Elise Boudry, Adeline Trauffler, Sylvie Nguyen-The-Tich, Simon Boussion, Roseline Caumes, Jamal Ghoumid, Thomas Smol","doi":"10.1111/epi.18609","DOIUrl":"https://doi.org/10.1111/epi.18609","url":null,"abstract":"<p><strong>Objective: </strong>Fibroblast growth factor 12 (FGF12), a member of the fibroblast homologous factor family, plays a key role in the modulation of voltage-gated sodium (Nav) channels. Pathogenic variants in the FGF12 gene leading to a gain-of-function mechanism and partial duplication encompassing the FGF12 gene leading to a loss-of-function mechanism are associated with developmental and epileptic encephalopathy (DEE), characterized by developmental delay, intellectual disability, ataxia, and drug-resistant epilepsy. We report two patients with DEE harboring de novo recurrent intragenic duplications of FGF12 identified by long-read sequencing (LRS).</p><p><strong>Methods: </strong>We applied LRS to the DNA and cDNA of patients with FGF12 duplication to fully characterize the DNA's structural organization and its transcriptional consequences. Additionally, we reanalyzed electroencephalographic (EEG) data from patients at different timepoints to identify phenotypical specificities and refine the electroclinical spectrum.</p><p><strong>Results: </strong>These duplications, spanning approximately 536 kbp, were mediated by nonallelic homologous recombination between L1PA2 elements (LINE-1 Primate-specific subfamily A, number 2). cDNA analysis revealed aberrant transcripts, one predicted to encode an elongated FGF12 protein and another leading to premature termination. Both patients shared overlapping clinical features, including postepilepsy onset regression, global developmental delay, and ataxia. EEG studies revealed a marked early encephalopathic pattern with disorganized and high-voltage slow background activity with multifocal spikes at onset evolving later into subcontinuous generalized spike and wave activation.</p><p><strong>Significance: </strong>Our findings are consistent with previous reports linking structural variants to functional disruption, suggesting impaired Nav channel activity due to a shift in inactivation to hyperpolarized potential, leading to a loss-of-function effect. These findings underscore the utility of LRS for DNA and cDNA analysis in resolving structural variants and expanding the electroclinical spectrum of patients with FGF12 duplications.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144947402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Peri-ictal imaging abnormalities in non-convulsive status epilepticus: A systematic review and meta-analysis comparing magnetic resonance imaging and computed tomography perfusion. 非惊厥性癫痫持续状态的周周成像异常:比较磁共振成像和计算机断层扫描灌注的系统回顾和荟萃分析。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-08-19 DOI: 10.1111/epi.18604
Pilar Bosque-Varela, Giorgi Kuchukhidze, Wiebke Hahn, Clara Jünemann, Lukas Machegger, Leona Möller, Johannes Pfaff, Eugen Trinka, Susanne Knake, Panagiota-Eleni Tsalouchidou
{"title":"Peri-ictal imaging abnormalities in non-convulsive status epilepticus: A systematic review and meta-analysis comparing magnetic resonance imaging and computed tomography perfusion.","authors":"Pilar Bosque-Varela, Giorgi Kuchukhidze, Wiebke Hahn, Clara Jünemann, Lukas Machegger, Leona Möller, Johannes Pfaff, Eugen Trinka, Susanne Knake, Panagiota-Eleni Tsalouchidou","doi":"10.1111/epi.18604","DOIUrl":"10.1111/epi.18604","url":null,"abstract":"<p><strong>Objective: </strong>To assess and compare the detection rates of peri-ictal abnormalities using magnetic resonance imaging (MRI) and computed tomography perfusion (CTP) in patients with non-convulsive status epilepticus (NCSE).</p><p><strong>Methods: </strong>We conducted a systematic literature search in five databases up to February 2025. Studies reporting peri-ictal MRI abnormalities (PMAs) or cerebral perfusion abnormalities (CPAs) in patients with NCSE were included. Meta-analyses of proportions were performed using a random-effects model. Subgroup analyses and meta-regression were used to compare detection rates across imaging modalities.</p><p><strong>Results: </strong>Nineteen studies were included (15 MRI, 4 CTP), comprising 562 patients for MRI and 72 for CTP. The pooled detection rate of peri-ictal abnormalities was 50.0% (95% confidence interval [CI]: 34.0%-65.0%) for MRI and 79.3% (95% CI: 54.3%-92.5%) for CTP. Among the MRI modalities, arterial spin labeling (ASL) demonstrated the highest detection rate at 88.8% (95% CI: 32.9%-99.2%). CTP showed a significantly higher detection rate than MRI (χ<sup>2</sup> = 3.97, p = 0.046); meta-regression indicated increased odds of detection with CTP (odds ratio [OR] = 4.06, 95% CI: 0.97-16.99, p = 0.055). No statistically significant difference was found between ASL and CTP (χ<sup>2</sup> = 0.22, p = 0.636).</p><p><strong>Conclusions: </strong>CTP demonstrates a higher detection rate than conventional MRI for peri-ictal abnormalities in patients with NCSE, supporting its utility in rapid diagnosis and differential workup. Among MRI sequences, ASL showed the highest detection rates, highlighting its potential role in the diagnostic assessment of NCSE. Although MRI remains essential for clarifying etiology, its effectiveness in detecting PMA is highly dependent on the sequences used.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144872052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Absence seizures and sleep-wake abnormalities in a rat model of GRIN2B neurodevelopmental disorder. GRIN2B神经发育障碍大鼠模型的缺失、癫痫发作和睡眠觉醒异常。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-08-19 DOI: 10.1111/epi.18606
Katerina Hristova, Melissa C M Fasol, Niamh McLaughlin, Mohammad Sarfaraz Nawaz, Mehmet Taskiran, Ingrid Buller-Peralta, Anjanette P Harris, Andrew Sutherland, Alejandro Bassi, Adrian Ocampo-Garces, Javier Escudero, Peter C Kind, Alfredo Gonzalez-Sulser
{"title":"Absence seizures and sleep-wake abnormalities in a rat model of GRIN2B neurodevelopmental disorder.","authors":"Katerina Hristova, Melissa C M Fasol, Niamh McLaughlin, Mohammad Sarfaraz Nawaz, Mehmet Taskiran, Ingrid Buller-Peralta, Anjanette P Harris, Andrew Sutherland, Alejandro Bassi, Adrian Ocampo-Garces, Javier Escudero, Peter C Kind, Alfredo Gonzalez-Sulser","doi":"10.1111/epi.18606","DOIUrl":"10.1111/epi.18606","url":null,"abstract":"<p><strong>Objective: </strong>Pathogenic mutations in GRIN2B are an important cause of severe neurodevelopmental disorders resulting in epilepsy, autism, and intellectual disability. GRIN2B encodes the GluN2B subunit of N-methyl-d-aspartate receptors (NMDARs), which are ionotropic glutamate receptors critical for normal development of the nervous system and synaptic plasticity. Here, we characterized a novel Grin2b heterozygous knockout rat model with electroencephalography (EEG) and pharmacological interventions to block spontaneous seizures.</p><p><strong>Methods: </strong>Through western blot analysis we assessed the extent of GluN2B protein knockdown in knockout (Grin2b<sup>+/-</sup>) rats compared to controls. We recorded 24-h wireless multi-channel EEG to test whether seizure activity was present and analyzed sleep-wake cycles through a novel automated sleep-scoring algorithm. We tested the effects of systemic and intracerebral reticular thalamic nucleus administration of ethosuximide, a T-type voltage-gated calcium channel blocker, and memantine, a noncompetitive NMDAR antagonist, on seizures.</p><p><strong>Results: </strong>Compared to wild-type rats, Grin2b<sup>+/-</sup> rats had a higher incidence of spontaneous spike and wave discharges (SWDs), the electrographic correlate of absence seizures. SWDs were longer in duration and displayed higher delta band spectral power in Grin2b<sup>+/-</sup> animals. Heterozygous animals displayed a reduction in total rapid eye movement sleep and altered distributions of non-rapid eye movement sleep and wake epochs. This was accompanied by a decrease in overall spectral wake power and an increase in beta band power during non-rapid eye movement sleep. The sleep-wake phenotypes were largely uncorrelated with the incidence of SWDs. Systemic ethosuximide reduced the number and duration of SWDs, whereas memantine only reduced their duration. Intrathalamic infusion of both ethosuximide and memantine reduced the number of SWDs.</p><p><strong>Significance: </strong>Our data show that the new rat Grin2b haploinsufficiency model exhibits clinically relevant phenotypes and highlights two potential therapeutic options for GRIN2B-related epilepsy.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144872048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
MRI-negative epilepsy: A systematic review and meta-analysis. mri阴性癫痫:系统回顾和荟萃分析。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-08-19 DOI: 10.1111/epi.18616
Ravnoor S Gill, Francesco Deleo, Boris Bernhardt, Samuel Wiebe, Neda Bernasconi, Andrea Bernasconi
{"title":"MRI-negative epilepsy: A systematic review and meta-analysis.","authors":"Ravnoor S Gill, Francesco Deleo, Boris Bernhardt, Samuel Wiebe, Neda Bernasconi, Andrea Bernasconi","doi":"10.1111/epi.18616","DOIUrl":"10.1111/epi.18616","url":null,"abstract":"<p><strong>Objective: </strong>Drug-resistant focal epilepsy is commonly dichotomized based on magnetic resonance imaging (MRI) lesion visibility into positive (MRI-pos) and negative (MRI-neg). Yet, the criteria used to ascribe such categorization are variable. We used a systematic review and meta-analysis to synthesize evidence for the designation of MRI-neg status.</p><p><strong>Methods: </strong>In accordance with Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines, the systematic review (1990-2025) across Embase, Cochrane, and Medline databases identified cohorts with MRI-neg epilepsy. Unsupervised clustering stratified studies based on co-occurrence of imaging modalities. Within identified classes, we assessed the consistency of reporting MRI parameters, rater expertise, post-processing, and stereo-electroencephalography (SEEG). Meta-analyses evaluated the effects of post-processing on diagnostic yield and MRI-neg status on post-surgical outcome.</p><p><strong>Results: </strong>We screened 2622 records and assessed the eligibility of 448 full-text articles, 246 of which met the inclusion criteria for systematic review: 108 (44%) provided data only on MRI-neg and 138 (56%) on mixed adult cohorts, for a total of 10.463 MRI-neg and 7436 MRI-pos patients. Compared to MRI-pos, MRI-neg patients underwent SEEG more frequently (75% vs 54%, p < 0.05), underwent surgery less frequently (73% vs 84%; odds ratio [OR] = 1.14, p < 0.001), and had less favorable outcomes (61% vs 72%, p < 0.05). Clustering identified three classes: MRI-dominant, typified by consistent reporting of MRI parameters (ORs >3.11, p < 0.001), rater-expertise (ORs >9.94, p < 0.001), and post-processing (ORs >3.38, p < 0.03), as opposed to Limited-MRI (χ<sup>2</sup> = 41.08, p < 0.001); MRI-and-nuclear-imaging class was typified by use of SEEG (ORs >3.33, p < 0.02). Meta-analyses showed a 39% gain in diagnostic yield after post-processing (11.10, 95% confidence interval [CI] 7.45-16.53) and a higher proportion of favorable surgical outcome in MRI-pos compared to MRI-neg (75% vs 58%; χ<sup>2</sup> = 19.10, p < 0.001). Time-based sensitivity analyses did not affect results.</p><p><strong>Significance: </strong>The designation of MRI-neg is ambiguous, with most studies lacking details on imaging parameters and reader expertise. Given a 39% gain in diagnostic yield, MRI post-processing should be performed systematically as part of a modern multimodal approach to epilepsy surgery before ascribing MRI-neg status.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144872051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Novel neuropathological observations in an adult with Dravet syndrome. 成人Dravet综合征的新神经病理学观察。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-08-19 DOI: 10.1111/epi.18613
Danielle M Andrade, Anne S Bassett, Quratulain ZulfiqarAli, Victor S T Lira, Nikolai Gil Reyes, M Carmela Tartaglia, Alfonso Fasano, Gabor G Kovacs
{"title":"Novel neuropathological observations in an adult with Dravet syndrome.","authors":"Danielle M Andrade, Anne S Bassett, Quratulain ZulfiqarAli, Victor S T Lira, Nikolai Gil Reyes, M Carmela Tartaglia, Alfonso Fasano, Gabor G Kovacs","doi":"10.1111/epi.18613","DOIUrl":"https://doi.org/10.1111/epi.18613","url":null,"abstract":"<p><p>Dravet syndrome (DS) is a developmental and epileptic encephalopathy associated with pathogenic variants in the SCN1A gene. The neuropathological features of adult DS remain poorly understood. We report the postmortem findings of a 55-year-old woman with DS due to a confirmed SCN1A pathogenic variant leading to Nav1.1 loss of function. Clinically, she developed pharmacoresistant seizures, intellectual disability, progressive ataxia, parkinsonism, and cognitive decline. Neuropathological examination revealed a striking excess and several layers of corpora amylacea (wasteosomes) covering the whole convexity of the brain. In addition, abundant p62-positive gray matter neuritic profiles were found mostly in limbic regions and in the white matter in neocortical regions. Pericellular TMEM106B-positive deposits and prominent immunoreactivity for aquaporin 4 were also observed. There was severe Purkinje cell loss in some lobes of the cerebellum together with variable neuronal loss in the substantia nigra, neocortex, and hippocampus. No α-synuclein, amyloid-β, or phospho-TDP-43 pathology was present. Immunostaining for phosphorylated tau revealed neurofibrillary pathology consistent with Braak stage I (left) -II (right). In summary, our study reveals pathological alterations suggestive of chronic glymphatic insufficiency, impaired autophagy, and some degree of neuronal loss without currently known misfolded protein deposits. These findings are suggestive of an accelerated aging and neurodegenerative process in this adult with DS.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145069317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Peripheral blood mononuclear cell secretome from patients with autoimmune encephalitis promotes seizures in vitro. 自身免疫性脑炎患者外周血单核细胞分泌组促进体外癫痫发作。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-08-18 DOI: 10.1111/epi.18600
Sara Prevosti, Alessio Passalacqua, Maria Cristina Regondi, Giada D'Ambrosio, Alessandra Morano, Michele Romoli, Giulia Maira, Flavio Villani, Pietro Mattioli, Diego Franciotta, Andrea Stabile, Marco de Curtis, Matteo Gastaldi, Francesco Deleo, Laura Librizzi
{"title":"Peripheral blood mononuclear cell secretome from patients with autoimmune encephalitis promotes seizures in vitro.","authors":"Sara Prevosti, Alessio Passalacqua, Maria Cristina Regondi, Giada D'Ambrosio, Alessandra Morano, Michele Romoli, Giulia Maira, Flavio Villani, Pietro Mattioli, Diego Franciotta, Andrea Stabile, Marco de Curtis, Matteo Gastaldi, Francesco Deleo, Laura Librizzi","doi":"10.1111/epi.18600","DOIUrl":"https://doi.org/10.1111/epi.18600","url":null,"abstract":"<p><strong>Objective: </strong>Autoimmune encephalitis (AE) is characterized by inflammatory processes in the central nervous system and frequently presents with seizures. Even though an ictogenic potential has been shown for some antibodies against neuronal surface antigens (NSAbs), AE pathophysiology is complex, and NSAbs-independent mechanisms are likely to contribute to seizures. We investigated whether the secretome released by peripheral blood mononuclear cells (PBMCs) from AE patients contributes to seizure generation independently of NSAbs.</p><p><strong>Methods: </strong>PBMCs were isolated from 19 patients with AE (including both those with and those without detectable NSAbs) and 13 healthy volunteers. After 6 h in culture, the PBMC supernatant (secretome) was infused into a heterologous in vitro whole guinea pig brain preparation. Neurophysiological activity was monitored in the isolated in vitro guinea pig brain preparation during coperfusion of PBMC-derived supernatant (secretome) with the endotoxin lipopolysaccharide and human recombinant serum albumin, to induce and mimic, respectively, a mild functional blood-brain barrier impairment. Morphological analysis of ionized calcium-binding adapter molecule 1-positive glial cells was performed in these brains after the electrophysiological experiment. Secretome obtained after 6 h in culture was analyzed with the Multiplex ELLA array system for inflammatory mediator detection.</p><p><strong>Results: </strong>Electrophysiological recordings and immunofluorescence analyses revealed that the secretome from PBMCs derived from AE patients induced seizurelike events and microglial activation in our in vitro brain preparation. Multiplex ELLA immunoassay analysis showed significantly lower concentration of interleukin (IL)-10, IL-1Ra, tumor necrosis factor-α, IL-2, and IL-6 in the secretome of PBMCs derived from AE patients compared to healthy subjects. IL-1β levels were comparable in the secretome of PBMCs derived from AE and healthy subjects.</p><p><strong>Significance: </strong>Our findings suggest, for the first time, that peripheral inflammatory mediators could represent a trigger factor for seizure activity in AEs, beyond a possible antibody-mediated mechanism.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144872053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Differential outcomes in familial and sporadic SCN8A self-limited infantile epilepsies: Insights from a large international registry. 家族性和散发性SCN8A自限性婴儿癫痫的差异结局:来自大型国际注册的见解
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-08-18 DOI: 10.1111/epi.18569
Francesca Furia, Sopio Gverdtsiteli, Wibke Janzarik, Christian Korff, Gaetan Lesca, Maria Margherita Mancardi, Martino Montomoli, Marina Nikanorova, Romina Romaniello, Guido Rubboli, Steffen Syrbe, Federico Vigevano, Rikke S Møller, Elena Gardella
{"title":"Differential outcomes in familial and sporadic SCN8A self-limited infantile epilepsies: Insights from a large international registry.","authors":"Francesca Furia, Sopio Gverdtsiteli, Wibke Janzarik, Christian Korff, Gaetan Lesca, Maria Margherita Mancardi, Martino Montomoli, Marina Nikanorova, Romina Romaniello, Guido Rubboli, Steffen Syrbe, Federico Vigevano, Rikke S Møller, Elena Gardella","doi":"10.1111/epi.18569","DOIUrl":"https://doi.org/10.1111/epi.18569","url":null,"abstract":"","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144872049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Epilepsy as a dynamic disease: Toward actionable, individualized seizure risk prediction. 癫痫作为一种动态疾病:走向可操作的、个体化的癫痫发作风险预测。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-08-18 DOI: 10.1111/epi.18602
Kai Michael Schubert, Anthony G Marson, Eugen Trinka, Marian Galovic
{"title":"Epilepsy as a dynamic disease: Toward actionable, individualized seizure risk prediction.","authors":"Kai Michael Schubert, Anthony G Marson, Eugen Trinka, Marian Galovic","doi":"10.1111/epi.18602","DOIUrl":"https://doi.org/10.1111/epi.18602","url":null,"abstract":"<p><p>The current definition of epilepsy allows diagnosis after a single unprovoked seizure if the estimated 10-year recurrence risk is ≥60%. While this framework is grounded in epidemiological evidence, it does not align with the shorter time horizons that guide many clinical and personal decisions. In acquired epilepsies, such as those following stroke, traumatic brain injury, or CNS infections, most recurrences occur within 1-2 years, with risk declining sharply thereafter. This temporal clustering challenges the use of static, long-term risk thresholds in isolation. Dynamic tools, such as the Chance of an Occurrence of a Seizure in the Next Year (COSY) and validated prognostic models (e.g., SeLECT, CAVE, RISE), offer recalculable, near-term estimates that reflect evolving patient status. These metrics can improve communication, inform treatment thresholds through Number Needed to Treat (NNT) calculations, and enhance clinical trial recruitment by targeting periods of highest risk. However, barriers remain, including limited integration into guidelines, gaps in external validation, and the \"Oedipus effect,\" where probabilistic predictions influence patient behavior, treatment decisions, and research outcomes. Incorporating individualized, time-sensitive risk prediction into clinical frameworks may better align diagnostic definitions with patient needs, reduce overtreatment, and optimize both everyday care and research in epilepsy prevention and management.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144872050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Seizure classifications across the years: A translation table. 多年来的扣押分类:翻译表。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-08-18 DOI: 10.1111/epi.18608
Sabrina Tavella-Burka, Patrick Hartnett, Mark Quigg
{"title":"Seizure classifications across the years: A translation table.","authors":"Sabrina Tavella-Burka, Patrick Hartnett, Mark Quigg","doi":"10.1111/epi.18608","DOIUrl":"https://doi.org/10.1111/epi.18608","url":null,"abstract":"<p><p>In 2025, the International League Against Epilepsy introduced a revised seizure classification, building on user feedback and increased knowledge of seizure mechanisms, as an update to the 1981 and 2017 classifications previously established. Given the expectation of slow adoption, with continued use of the previous terminology in published literature, education, regulatory bodies, and even clinical practice, we provide a translation table of seizure terminology classifications.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145069391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Predictive power of phase 1 studies for the identification of seizure onset zone in phase 2 in a pediatric epilepsy cohort. 一期研究对儿童癫痫队列二期癫痫发作区识别的预测能力。
IF 6.6 1区 医学
Epilepsia Pub Date : 2025-08-18 DOI: 10.1111/epi.18596
Kalman Katlowitz, Anthony Allam, Nealen Laxpati, Steven Lee, John P McGinnis, Akshat Katyayan, Irfan Ali, Kimberly M Houck, Anu Nayak, Sonali Sen, Gloria Diaz-Medina, Deepankar Mohanty, Dave Clarke, Rohini Coorg, Elaine S Seto, James J Riviello, Anne E Anderson, Howard L Weiner, Daniel J Curry
{"title":"Predictive power of phase 1 studies for the identification of seizure onset zone in phase 2 in a pediatric epilepsy cohort.","authors":"Kalman Katlowitz, Anthony Allam, Nealen Laxpati, Steven Lee, John P McGinnis, Akshat Katyayan, Irfan Ali, Kimberly M Houck, Anu Nayak, Sonali Sen, Gloria Diaz-Medina, Deepankar Mohanty, Dave Clarke, Rohini Coorg, Elaine S Seto, James J Riviello, Anne E Anderson, Howard L Weiner, Daniel J Curry","doi":"10.1111/epi.18596","DOIUrl":"https://doi.org/10.1111/epi.18596","url":null,"abstract":"<p><strong>Objective: </strong>Surgical outcomes in the management drug-resistant epilepsy (DRE) rely heavily on proper identification of the seizure onset zone (SOZ). Stereo-electroencephalography (sEEG) can be used to localize SOZs but must be hypothesis driven. Proper utilization of phase 1, noninvasive studies can maximize sEEG planning.</p><p><strong>Methods: </strong>We performed a retrospective chart review of pediatric patients who underwent sEEG implantation for DRE at a single institution and then subsequently had treatment for an identified SOZ. Each sEEG lead was identified by phase 1, noninvasive data indicating possible SOZ localization. SOZ and patient outcomes were correlated with phase 1 study findings.</p><p><strong>Results: </strong>One hundred patients with a total of 1777 leads implanted over the span of 10 years were analyzed. A total of 242 SOZs were identified; 41.5% of patients were seizure-free at 1 year, and 75.4% had at least a 50% reduction in seizure frequency. Multivariate modeling showed that anatomical findings such as lesions (odds ratio [OR] = 1.6) and calcifications (OR = 2.5) as well as magnetoencephalography (OR = 1.5) and semiology (OR = 1.7) were the most predictive of SOZ. Predictive power varied with the underlying seizure etiology.</p><p><strong>Significance: </strong>These results highlight the importance of a multimodal approach to SOZ identification in the noninvasive evaluation phase. A deeper understanding of the potential of each individual preoperative testing modality can guide sEEG placement to minimize surgical risk while maximizing diagnostic yield.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144872054","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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