Epileptic Disorders最新文献

{"title":"Evolution from reflex myoclonic epilepsy of infancy to childhood absence epilepsy in NRXN1-related disorder.","authors":"Shanine Kamgang, Kenneth A Myers","doi":"10.1002/epd2.70409","DOIUrl":"https://doi.org/10.1002/epd2.70409","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148957110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk of hostility and aggression with perampanel monotherapy versus combination therapy in pediatric epilepsy: A Japanese post-marketing database study using a nested case-control design.","authors":"Yukitoshi Takahashi, Masato Takeuchi, Akiko Yoshimura, Kasumi Daidoji, Kazuhiro Matsutani, Mika Ishii","doi":"10.1002/epd2.70399","DOIUrl":"https://doi.org/10.1002/epd2.70399","url":null,"abstract":"<p><strong>Objective: </strong>To compare the incidence of hostility- and aggression-related adverse events in children with focal-onset seizures (FOS), with or without focal to bilateral tonic-clonic seizures (FBTCS), receiving perampanel as monotherapy or in combination with other antiseizure medications (ASMs).</p><p><strong>Methods: </strong>This analysis used a real-world Japanese database integrating claims data, electronic medical records, and Diagnosis Procedure Combination data, alongside study-specific physician-reported outcomes. Children aged 4-11 years treated with perampanel for FOS with or without FBTCS were included. Using a nested case-control design, analyses adjusted for baseline covariates were conducted to compare the incidence of hostility- and aggression-related adverse events in children treated with perampanel as monotherapy vs. combination therapy with other ASMs.</p><p><strong>Results: </strong>Among 158 prospectively collected patients included in the primary analysis set, 10 (6.3%) experienced 14 hostility- and aggression-related adverse events, including irritability (n = 5), aggression (n = 5), anger (n = 2), anxiety (n = 1), and hallucinations (n = 1). There were no significant differences in the risk of hostility or aggression between patients receiving perampanel as monotherapy or in combination with other ASMs. Secondary and sensitivity analyses confirmed the robustness of these findings.</p><p><strong>Significance: </strong>The safety profile of perampanel in routine pediatric practice was consistent with prior clinical trial data. The potential for hostility- and aggression-related adverse events warrants caution, but rates did not differ between perampanel as monotherapy vs. in combination with other ASMs. This study also demonstrated the feasibility of integrating physician-reported outcomes into post-marketing surveillance using a real-world database, providing detailed insights beyond standard medical information.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148957247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Postoperative outcomes and predictors of functional sequelae following hemispheric surgery in Rasmussen's encephalitis: A retrospective cohort study from the global pediatric epilepsy surgery registry.","authors":"Krish Nair, Nicholas Benjamin, Emily Harford, Levi Shelton, Ariel Heller, Katherine Cobb-Pitstick, Luis Fernandez, Ross Carson, Monika Jones, William Welch, Taylor J Abel, Ruba Al-Ramadhani","doi":"10.1002/epd2.70394","DOIUrl":"https://doi.org/10.1002/epd2.70394","url":null,"abstract":"<p><strong>Objective: </strong>Rasmussen's encephalitis (RE) is a rare and progressive, immune-mediated epileptic encephalopathy characterized by drug-resistant seizures and neurological decline. While hemispheric disconnection (HD) is the gold standard treatment for effective seizure control, this procedure carries significant risk of permanent neurological sequelae. Systematic evaluation of both seizure and functional outcomes is essential to guide surgical decision-making.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study using caregiver survey data from the Global Pediatric Epilepsy Surgery Registry. Children with RE who underwent HD and had complete postoperative data were included (n = 37). The primary outcome was to examine pre and postoperative functional status, including seizure freedom, motor and mobility changes, visual impairments, language difficulties, operative complications, and caregiver-reported quality of life (QoL) and regret. Multivariable analysis was run on candidate predictors (seizure onset, age at surgery, hemisphere of surgery, seizure frequency, number of surgeries, hydrocephalus).</p><p><strong>Results: </strong>Mean age at seizure onset was under 6 years, with mean age at surgery 8.4 years and mean time to surgery 3.6 years. Postoperatively, 84.8% achieved seizure freedom, which correlated with QoL improvement (p = .008). Hemiparesis increased from 22% to 97%; 35.8% lost the ability to run, 6.1% to walk, 6.4% to stand, and 31.2% to roll unassisted. Visual deficits rose from 16% to 84.4%. Left-sided surgery predicted language deficits (p = .019), while older age at surgery was associated with increased loss of motor milestones (p = .016). Hydrocephalus occurred in 18.2%. Overall, 86% of caregivers reported QoL improvement; 54.8% wished surgery had been performed earlier, and 12.5% expressed regret.</p><p><strong>Significance: </strong>HD in pediatric RE yields high rates of seizure freedom and caregiver-perceived QoL improvement but carries substantial risks of motor, language, and visual sequelae. These findings emphasize the importance of individualized, patient-centered counseling and support the need for prospective studies to refine prognostic models and inform surgical decision-making.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148957140","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Global inequalities in epilepsy of genetic or unknown cause: Mortality-disability divergence across socio-demographic settings, 1990-2023.","authors":"Francesco Brigo, Gloria Brigiari, Gianfranco Di Gennaro, Simona Lattanzi, Johan Zelano, Eugen Trinka","doi":"10.1002/epd2.70398","DOIUrl":"https://doi.org/10.1002/epd2.70398","url":null,"abstract":"<p><strong>Aims: </strong>To quantify global, long-term trends in epilepsy of genetic/unknown cause, defined as \"idiopathic epilepsy\" in the Global Burden of Disease (GBD) framework, assessing how mortality, disability, and their balance have evolved across socio-demographic settings from 1990 to 2023.</p><p><strong>Methods: </strong>Using GBD 2023 estimates for 1990-2023, we analyzed age-standardized disability-adjusted life years (DALYs), years of life lost (YLL), and years lived with disability (YLD) across the five Socio-demographic Index (SDI) categories. Temporal patterns were examined descriptively and through segmented regression to identify SDI-specific breakpoints. Long-term changes were quantified using Estimated Annual Percentage Change (EAPC). Differences across SDI strata were assessed using interaction models. The mortality-disability balance was evaluated using the YLL/YLD ratio, modeled on the log scale with year, SDI, and their interaction.</p><p><strong>Results: </strong>DALY and YLL rates declined across all SDI groups, with steeper reductions in High-middle and High SDI. YLD rates showed smaller declines, with a modest SDI gradient. EAPCs confirmed consistent socioeconomic differences: declines were modest in Low, Low-middle, and Middle SDI but nearly doubled in High-middle and High SDI. The YLL/YLD ratio decreased during the 1990s and early 2000s but increased again in recent years in Low SDI. Log-linear modeling showed significantly lower baseline ratios in all higher-SDI groups and steeper long-term improvements in High-middle and High SDI.</p><p><strong>Conclusions: </strong>Global inequalities in epilepsy persist, driven primarily by divergent mortality patterns. Higher-SDI settings show faster improvements, especially in mortality-related outcomes, whereas Low-SDI regions face stagnation or reversal in mortality trends despite relatively stable disability patterns.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical trial barriers in neurostimulation for pediatric drug-resistant epilepsy.","authors":"Mira C Hasner, Faith C Robertson, Nathaniel D Sisterson, Gabriel Lazaro-Munoz, Florence T Bourgeois, James W Wheless, Steven M Wolf, Peter C Warnke, Saadi Ghatan, Joffre Olaya, Catherine J Chu, Brian N Lundstrom, Sanjeev V Kothare, Marytery Fajardo, Marike L D Broekman, R Mark Richardson","doi":"10.1002/epd2.70388","DOIUrl":"https://doi.org/10.1002/epd2.70388","url":null,"abstract":"<p><strong>Objective: </strong>The NeuroPace responsive neurostimulation (RNS) System effectively treats focal drug-resistant epilepsy (DRE) in adults but lacks pediatric regulatory approval. Despite effective off-label pediatric use, systemic device-trial challenges have impeded label expansion. The prospective RESPONSE Study (NCT04839601), evaluating RNS in children with focal DRE, terminated prematurely after enrolling nine of 200 planned participants. We aimed to identify barriers to pediatric device-trial participation and evaluate whether anticipated ethical concerns about insurance-based access disparities materialized in practice.</p><p><strong>Methods: </strong>We conducted a mixed-methods study: a multi-site cross-sectional survey of barriers to RESPONSE participation, and a retrospective single-site case study at Massachusetts General Hospital (MGH) analyzing insurance distribution against state benchmarks in 96 RNS patients (73 adults and 23 pediatric), with denial rates and time to first reimbursement in a 62-patient subset (2020-2025).</p><p><strong>Results: </strong>Survey respondents comprised 8 of 9 RESPONSE sites plus MGH (which declined): 2 active, 6 withdrawn, and 1 declined. Study-design and enrolment feasibility were the dominant barriers (89%), followed by financial (44%), resource (33%), ethical (22%), and regulatory concerns (11%). The narrow eligible population reflected a mismatch between regulatory-aligned criteria (≤ 2 seizure-onset zones; exclusion of generalized or multifocal epilepsy; ages 12-17) and the heterogeneous presentations of real-world pediatric DRE, limiting recruitment. Insurance distributions did not differ from statewide benchmarks (p = .13) or between pre- and post-evaluation periods (p = .15). Denial occurred in 2/26 off-label pediatric (7.7%) and 1/36 focal adult (2.8%) RNS indications, all upheld on appeal and resolved by institutional subsidy; time to reimbursement did not differ (p = .31).</p><p><strong>Significance: </strong>The RESPONSE Study's premature termination reflected systemic barriers to pediatric device trials rather than isolated site failures. Anticipated insurance-based access disparities did not materialize locally. Advancing pediatric neuromodulation will require practice-aligned protocol design, alternative evidence pathways including registry-based real-world evidence, and leadership from well-resourced centers in collaborative evidence generation.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply to Letter to the Editor for: \"The hidden burden of sleep in adolescents with idiopathic generalized epilepsy\".","authors":"Carlo Alberto Quaranta, Martina Paola Zanaboni, Elena Ripamonti, Gaia Garghetti, Massimiliano Celario, Serena Grumi, Helene Vitali, Valentina De Giorgis, Ludovica Pasca","doi":"10.1002/epd2.70393","DOIUrl":"https://doi.org/10.1002/epd2.70393","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148913931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clonazepam-induced manic episode: A clinical vignette.","authors":"Fahrettin Sertaç Yapar, Aslı Ercan Doğan, Candan Gürses","doi":"10.1002/epd2.70410","DOIUrl":"https://doi.org/10.1002/epd2.70410","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148913964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Authors' response to the letter to the editor \"Knowing enough: On the limits of knowing the patient in epilepsy care\".","authors":"Hemant Kumar Tiwari, Mamta Bhushan Singh","doi":"10.1002/epd2.70407","DOIUrl":"https://doi.org/10.1002/epd2.70407","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148913821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early-onset maculopapular eruption with palmoplantar desquamation following intravenous levetiracetam.","authors":"Ahmet Yildirim, Ezgi Aslan, Temel Tombul","doi":"10.1002/epd2.70402","DOIUrl":"https://doi.org/10.1002/epd2.70402","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148901486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Functional (dissociative) seizures in PCDH19-clustering epilepsy: Clinical characteristics and diagnostic challenges.","authors":"Rita Cagigal, Javier Peña-Ceballos, Patrick B Moloney, Elena González-Alguacil, Nuria Lamagrande, Ethan Tennant, Maria Jesus Martínez-González, Victor Gomez-Mayordomo, Andrea Garcia-Ortega, Radu-Ștefan Perjoc, Oana-Aurelia Vladâcenco, Kette Valente, Rhys H Thomas, Victor Soto-Insuga, Norman Delanty, Rikke S Møller, Ángel Aledo-Serrano","doi":"10.1002/epd2.70406","DOIUrl":"https://doi.org/10.1002/epd2.70406","url":null,"abstract":"<p><strong>Objective: </strong>Functional (dissociative) seizures (FDS) are increasingly recognized among individuals with epilepsy, intellectual disability (ID), and psychiatric disorders, but their occurrence in PCDH19-clustering epilepsy (CE) has not been systematically described. We aimed to characterize the clinical features, diagnostic pathways, and management of FDS in individuals with genetically confirmed PCDH19-CE.</p><p><strong>Methods: </strong>We conducted a multicenter retrospective study across six tertiary European Epilepsy Centers. Individuals with genetically confirmed PCDH19-CE and a diagnosis of FDS according to the International League Against Epilepsy (ILAE) criteria were included. Demographic, clinical, neuropsychiatric, neurophysiological, neuroimaging, and treatment-related data were collected from medical records.</p><p><strong>Results: </strong>Among 27 individuals with genetically confirmed PCDH19-CE, eight (29.6%) experienced FDS. The median age at FDS onset was 16 years. Most affected individuals had some degree of ID, and nearly all exhibited psychiatric comorbidities, particularly behavioral dysregulation and autism spectrum disorder. Six patients were initially misdiagnosed with epileptic seizures, resulting in unnecessary antiseizure medication (ASM) escalation and hospitalizations. Following FDS diagnosis, ASM reduction or modification was undertaken in three patients. Multidisciplinary management involving psychiatry, psychology, and occupational therapy was implemented in most cases, and all treated individuals demonstrated clinical improvement.</p><p><strong>Significance: </strong>FDS may constitute an important comorbidity in individuals with PCDH19-CE, particularly during adolescence and adulthood. Early recognition of FDS may prevent unnecessary diagnostic and therapeutic interventions, reduce inappropriate ASM escalation, and improve patient outcomes through timely multidisciplinary care.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148901403","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}