Epilepsia最新文献

{"title":"Assessing the diagnostic performance of investigations in pediatric myoclonic epilepsies: A retrospective cohort study.","authors":"Sophie Brulé, Blandine Dozières-Puyravel, Hala Nasser, Monique Elmaleh-Bergès, François-Xavier Mauvais, Stéphane Auvin","doi":"10.1111/epi.18383","DOIUrl":"https://doi.org/10.1111/epi.18383","url":null,"abstract":"<p><strong>Objective: </strong>The primary purpose was to assess the diagnostic performance of investigations in children with myoclonic epilepsy. The secondary objectives were to examine the definitive syndromic diagnoses and report the outcomes of pediatric myoclonic epilepsies.</p><p><strong>Methods: </strong>We conducted a retrospective monocentric study from a pediatric center for rare epilepsies. We included pediatric patients investigated for myoclonic epilepsy at our center from 2009 to 2022. Data were collected from their medical records.</p><p><strong>Results: </strong>Forty-one children were included; 32 (78%) underwent untargeted etiological investigations, including brain magnetic resonance imaging and diverse laboratory tests to rule out an underlying etiology for progressive myoclonus epilepsy (PME). These investigations led to an etiological diagnosis of epilepsy for two patients, exclusively based on genetic investigations. At the final follow-up, an underlying etiology for epilepsy was established for nine patients (22%). The definitive syndromic diagnoses were diverse, comprising myoclonic epilepsy in infancy, epilepsy with myoclonic absences, Rasmussen syndrome, and PME. Some patients were diagnosed with nonsyndromic developmental and epileptic encephalopathy or unclassified nonsyndromic myoclonic epilepsy. Developmental delay or regression at the initial evaluation was found to be significantly associated with an unfavorable neurological outcome, the total number of antiseizure medications (ASMs) prescribed, and the unlikelihood of achieving ASM freedom. No patients with an abnormal head circumference or born of a consanguineous union were in the favorable neurological outcome group, although this finding did not reach statistical significance.</p><p><strong>Significance: </strong>Except for the need to promptly identify diseases for which precision medicine treatments are available, a first-line genetic approach seems reasonable to investigate children diagnosed with epileptic myoclonus.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143735884","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}

{"title":"Intestinal dysbiosis alters acute seizure burden and antiseizure medicine activity in Theiler's virus model of encephalitis.","authors":"Inga Erickson, Stephanie Davidson, Hanna Choi, Seongheon Rho, Michelle Guignet, Kristen Peagler, Kenneth Thummel, Aaron Ericsson, Melissa Barker-Haliski","doi":"10.1111/epi.18395","DOIUrl":"https://doi.org/10.1111/epi.18395","url":null,"abstract":"<p><strong>Objective: </strong>Brain infection with Theiler's murine encephalomyelitis virus (TMEV) in C57BL/6J mice produces an etiologically relevant model of acquired seizures. Dietary changes can modify seizure presentation following TMEV brain infection and influence intestinal microbiome diversity and composition. Intestinal dysbiosis may thus similarly affect seizure burden and antiseizure medicine (ASM) activity in this model, independent of pharmacokinetic effects. We thus sought to define the influence of antibiotic (ABX)-induced gut dysbiosis on acute seizure presentation, anticonvulsant activity of carbamazepine (CBZ), and CBZ pharmacokinetics with TMEV infection.</p><p><strong>Methods: </strong>Male C57BL/6J mice (4-5 weeks old) received oral ABX or saline (SAL) once daily beginning on arrival through day 7 after TMEV infection (postinfection [p.i.]). Mice were infected with TMEV or phosphate-buffered saline on day 0. Mice received intraperitoneal (20 mg/kg) CBZ or vehicle (VEH) twice daily on days 3-7 p.i. and were assessed for handling-induced seizures 30 min after treatment. Plasma was collected on day 7 p.i. at 15 and 60 min after CBZ administration for bioanalysis.</p><p><strong>Results: </strong>TMEV infection induced acute seizures, but ABX-induced gut dysbiosis altered seizure presentation. There were 75% SAL-VEH, 35% SAL-CBZ, 35% ABX-VEH, and 72% ABX-CBZ mice with seizures during the 7-day monitoring period. There was a significant pretreatment × ASM interaction (p = .0001), with differences in seizure burden in SAL- versus ABX-pretreated mice (p = .004). CBZ significantly increased latency to seizure presentation, an effect absent in ABX-CBZ mice. Plasma CBZ concentrations did not differ between SAL and ABX pretreatment groups, suggesting that ABX did not influence CBZ pharmacokinetics.</p><p><strong>Significance: </strong>ABX-induced gut dysbiosis markedly altered acute disease trajectory with TMEV-induced encephalitis, reflecting a novel contribution of the gut microbiome to seizure presentation. ABX-induced gut dysbiosis also significantly changed acute seizure control by CBZ, but did not influence plasma CBZ concentrations. The gut-brain axis is thus an underrecognized contributor to TMEV infection-induced seizures, ASM activity, and disease burden.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143735885","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}

{"title":"Determinants of intellectual and developmental outcomes in a multicenter pediatric hemispherotomy cohort.","authors":"Georgia Ramantani, Dorottya Cserpan, Martin Tisdall, Willem M Otte, Georg Dorfmüller, Isabelle Jambaqué, J Helen Cross, Monique van Schooneveld, Pieter van Eijsden, Gitta Reuner, Niklaus Krayenbühl, Sarah Ferrand-Sorbets, Josef Zentner, Kees P J Braun, Christine Bulteau","doi":"10.1111/epi.18391","DOIUrl":"https://doi.org/10.1111/epi.18391","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to identify the determinants of intellectual and developmental outcomes following pediatric hemispherotomy in a large, contemporary multicenter cohort.</p><p><strong>Methods: </strong>We retrospectively analyzed the intellectual and developmental outcomes of 296 children and adolescents who underwent hemispherotomy between 2000 and 2016 and received a standardized postsurgical evaluation of intelligence or developmental quotient (IQ/DQ). Outcomes at the last follow-up were classified into four categories: normal (IQ/DQ > 85), mildly impaired (IQ/DQ = 70-84), moderately impaired (IQ/DQ = 55-69), or severely impaired (IQ/DQ < 55). Determinants of these outcomes were identified using ordinal regression modeling with imputation for missing data.</p><p><strong>Results: </strong>At a median follow-up of 2.1 years (interquartile range = 1.3-5.3), 84% of the children and adolescents were seizure-free, and 60% had discontinued antiseizure medication (ASM). Intellectual and developmental functioning at the last assessment was normal in 11% of the patients, mildly impaired in 16%, moderately impaired in 22%, and severely impaired in 51%. Higher functioning was less likely in patients with polymicrogyria as the underlying etiology (odds ratio [OR] = .3 [.11-.77], p = .013), those with contralateral magnetic resonance imaging abnormalities (OR = .47 [.22-.99], p = .047), and those who continued ASM after surgery (OR = .51 [.29-.9], p = .021). Conversely, patients with a later age at epilepsy onset were more likely to achieve higher functioning (OR = 1.16 [1.04-1.3], p = .011).</p><p><strong>Significance: </strong>Age at epilepsy onset, underlying etiology, presence of bilateral structural brain abnormalities, and postsurgical ASM management were key determinants of intellectual and developmental outcomes following hemispherotomy. These findings underscore the importance of timely ASM discontinuation as the only modifiable factor that may optimize intellectual and developmental trajectories. Although direct presurgical comparisons were not possible, the observed associations provide valuable insights into factors influencing cognitive outcomes.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729507","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}

{"title":"The association of air pollution with new-onset epilepsy.","authors":"Tresah C Antaya, Britney Le, Tor Oiamo, Piotr Wilk, Kathy N Speechley, Jorge G Burneo","doi":"10.1111/epi.18389","DOIUrl":"https://doi.org/10.1111/epi.18389","url":null,"abstract":"<p><strong>Objective: </strong>Air pollution has been associated with certain neurological disorders, but its association with epilepsy has been insufficiently explored. The study's objective was to estimate the association of long-term exposure to fine particulate matter (PM_2.5), nitrogen dioxide (NO₂), and ozone (O₃) with the risk of new-onset epilepsy among adults in Ontario, Canada.</p><p><strong>Methods: </strong>We used a nested case-control study design and linked health and environmental databases, including Ontario residents ages 18 to 80 as of January 1, 2010, without prior diagnoses of seizures or epilepsy. We identified cases as those who developed epilepsy by December 31, 2016, and matched each with up to five controls on age and sex. We used individual- and multi-pollutant conditional logistic regression models to estimate the associations between interquartile range (IQR) increases in each pollutant and new-onset epilepsy.</p><p><strong>Results: </strong>We included 24 761 cases and 118 692 controls. The median (IQR) pollutant concentrations were 7.9 (1.3) μg/m³ for PM_2.5, 9.6 (9.2) ppb for NO₂, and 42.7 (5.4) ppb for O₃. In the individual pollutant models, we observed significant associations with epilepsy for PM_2.5 (incident rate ratio [IRR] = 1.055, 95% confidence interval [CI]: 1.034-1.076), NO₂ (IRR = 0.938, 95% CI: 0.903-0.974), and O₃ (IRR = 1.096, 95% CI: 1.074-1.119). In the multi-pollutant model, we observed significant associations with epilepsy for NO₂ (IRR = 0.928, 95% CI: 0.891-0.965) and O₃ (IRR = 1.090, 95% CI: 1.060-1.121). Although the association for NO₂ was negative overall, the association was positive among individuals 65 and older.</p><p><strong>Significance: </strong>PM_2.5 and O₃ may be associated with an increased risk of new-onset epilepsy. We also observed a negative association for NO₂. However, residual confounding may have occurred. Future research should continue exploring the associations between specific air pollutants and new-onset epilepsy.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729510","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}

{"title":"Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.","authors":"Angela De Dominicis, Fabrizia Stregapede, Marina Trivisano, Francesco Nicita, Jacopo Sartorelli, Francesca Piceci Sparascio, Alessandra Terracciano, Antonio Novelli, Nicola Specchio, Enrico Silvio Bertini, Vito Luigi Colona","doi":"10.1111/epi.18385","DOIUrl":"https://doi.org/10.1111/epi.18385","url":null,"abstract":"","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729504","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}

{"title":"In vitro models of valproic acid to assess neurodevelopmental toxicity: A scoping review.","authors":"Daniel Sandvik, Elena Vianca, Alison Anderson, Muhammad Shahid Javaid, Terence J O'Brien, Ana Antonic-Baker","doi":"10.1111/epi.18392","DOIUrl":"https://doi.org/10.1111/epi.18392","url":null,"abstract":"<p><p>Valproic acid (VPA) is a first-line antiseizure medication (ASM) that is highly efficacious for treating generalized and focal epilepsy disorders. Unfortunately, due to its strong association with teratogenic effects culminating in fetal valproate spectrum disorder (FVSD), which may include neurocognitive and neurobehavioral deficits, the drug has become highly regulated/restricted for women of childbearing potential. This includes those who have been shown to respond well to the drug and respond poorly to alternative ASMs. Concurrently, VPA's neurotoxic, teratogenic mechanisms have been studied in vitro, and continued research may aid in providing depth to our understanding so that superior evidence-based care plans and novel drug designs can be made for patients with epilepsy disorders. This scoping review systematically assesses what in vitro studies have discovered regarding VPA's effects on neural cells and the proposed cellular neurotoxic mechanisms. Neurotoxicity studies have captured the cytotoxic, dysmorphological, genetic, and epigenetic effects in murine and human primary, immortalized, and stem cells in vitro. This includes extensive identification of many genes and gene pathways associated with neurodevelopmental disorders, a hallmark of FVSD. Although published studies have illuminated much about VPA's neurotoxic, teratogenic effects, a lack of standardization in testing methodologies renders making direct comparisons between the results of different studies challenging. Nevertheless, the recent use of human stem cell-based models provides a richer understanding of what cellular, molecular, genetic, and epigenetic effects are caused by VPA exposure. Future in vitro studies may improve their clinical translatability by administering clinically relevant concentrations of VPA to human stem cell-derived neural cells and fostering a better understanding of VPA's neural cell type-specific and epigenetic effects. In vitro VPA neurotoxicity studies on neurodevelopment show a clear potential to provide data that may help construct superior personalized evidence-based treatment plans and novel drug designs for women of childbearing potential with epilepsy disorders.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729509","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}

{"title":"Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real-world study.","authors":"Emanuele Cerulli Irelli, Adolfo Mazzeo, Roberto H Caraballo, Marco Perulli, Patrick B Moloney, Javier Peña-Ceballos, Marica Rubino, Katarzyna M Mieszczanek, Andrea Santangelo, Laura Licchetta, Valentina De Giorgis, Gabriela Reyes Valenzuela, Susanna Casellato, Elisabetta Cesaroni, Francesca F Operto, Jana Domínguez-Carral, Alia Ramírez-Camacho, Alessandro Ferretti, Giuseppe Santangelo, Angel Aledo-Serrano, Andrea Rüegger, Maria M Mancardi, Giulia Prato, Antonella Riva, Luca Bergonzini, Duccio M Cordelli, Paolo Bonanni, Francesca Bisulli, Giancarlo Di Gennaro, Sara Matricardi, Pasquale Striano, Norman Delanty, Carla Marini, Domenica Battaglia, Carlo Di Bonaventura, Georgia Ramantani, Elena Gardella, Alessandro Orsini, Antonietta Coppola","doi":"10.1111/epi.18378","DOIUrl":"https://doi.org/10.1111/epi.18378","url":null,"abstract":"<p><strong>Objective: </strong>This real-world, retrospective, multicenter study aims to investigate the effectiveness of highly purified cannabidiol (CBD) in a large cohort of patients with epilepsy of genetic etiology due to an identified monogenic cause. Additionally, we examine the potential relationship between specific genetic subgroups and treatment response.</p><p><strong>Methods: </strong>This study was conducted across 27 epilepsy centers and included patients with monogenic epileptic disorders (pathogenic or likely pathogenic variants) who were treated with highly purified CBD for at least 3 months.</p><p><strong>Results: </strong>A total of 266 patients (135 females, 50.8%) with monogenic epilepsies were included with a median age at CBD initiation of 12 years (interquartile range [IQR] = 7-19) and a median follow-up duration of 17 months (IQR = 12-24). Overall, 77 different monogenic epilepsies have been included, with the most common genes being SCN1A (32.3%), TSC2 (13.5%), CDKL5, and MECP2 (4.5% each). The mean seizure reduction at the last follow-up was 38.6%, with 47.5% of patients achieving ≥50% seizure reduction and 7.4% achieving seizure freedom. The Clinical Global Impression scale indicated improvement in 65.8% of patients. The general linear mixed model revealed that a shorter maximum duration of seizure freedom before CBD initiation and a higher degree of intellectual disability were independently associated with lower CBD effectiveness. Conversely, no significant differences in seizure outcome were observed across different epilepsy syndromes (Lennox-Gastaut syndrome, Dravet syndrome, tuberous sclerosis complex epilepsy, and other developmental and epileptic encephalopathy), between approved indications and off-label use, or between concomitant clobazam use or not.</p><p><strong>Significance: </strong>This study supports CBD as a potential treatment for monogenic epilepsies beyond its licensed indications, demonstrating comparable effectiveness between approved and off-label use and suggesting genetic subgroups with promising treatment responses.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143691141","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}

{"title":"Video-based detection of tonic-clonic seizures using a three-dimensional convolutional neural network.","authors":"Aidan Boyne, Hsiang J Yeh, Anthony K Allam, Brandon M Brown, Mohammad Tabaeizadeh, John M Stern, R James Cotton, Zulfi Haneef","doi":"10.1111/epi.18381","DOIUrl":"https://doi.org/10.1111/epi.18381","url":null,"abstract":"<p><strong>Objective: </strong>Seizure detection in epilepsy monitoring units (EMUs) is essential for the clinical assessment of drug-resistant epilepsy. Automated video analysis using machine learning provides a promising aid for seizure detection, with resultant reduction in the resources required for diagnostic monitoring. We employ a three-dimensional (3D) convolutional neural network with fully fine-tuned backbone layers to identify seizures from EMU videos.</p><p><strong>Methods: </strong>A two-stream inflated 3D-ConvNet architecture (I3D) classified video clips as a seizure or not a seizure. A pretrained action classifier was fine-tuned on 11 h of video containing 49 tonic-clonic seizures from 25 patients monitored at a large academic hospital (site A) using leave-one-patient-out cross-validation. Performance was evaluated by comparing model predictions to ground-truth annotations obtained from video-electroencephalographic review by an epileptologist on videos from site A and a separate dataset from a second large academic hospital (site B).</p><p><strong>Results: </strong>The model achieved a leave-one-patient-out cross-validation F1-score of .960 ± .007 (mean ± SD) and area under the receiver operating curve score of .988 ± .004 at site A. Evaluation on full videos detected all seizures (95% binomial exact confidence interval = 94.1%-100%), with median detection latency of 0.0 s (interquartile range = 0.0-3.0) from seizure onset. The site A model had an average false alarm rate of 1.81 alarms per hour, although 36 of the 49 videos (73.5%) had no false alarms. Evaluation at site B demonstrated generalizability of the architecture and training strategy, although cross-site evaluation (site A model tested on site B data and vice versa) resulted in diminished performance.</p><p><strong>Significance: </strong>Our model demonstrates high performance in the detection of epileptic seizures from video data using a fine-tuned I3D model and outperforms similar models identified in the literature. This study provides a foundation for future work in real-time EMU seizure monitoring and possibly for reliable, cost-effective at-home detection of tonic-clonic seizures.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143691234","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}

{"title":"Clinical implications of naming performance and seizure lateralization in bilingual children with epilepsy.","authors":"Melanie R Somekh, Mary Lou Smith, William S MacAllister, Nahal D Heydari, Robyn M Busch, Robert Fee, Christine Salinas, Marla J Hamberger","doi":"10.1111/epi.18373","DOIUrl":"https://doi.org/10.1111/epi.18373","url":null,"abstract":"<p><strong>Objective: </strong>Naming difficulty is a common symptom of left (i.e., language dominant) hemisphere epilepsy. As such, in the presurgical evaluation for drug-resistant epilepsy, which aims to localize the epileptogenic region, identification of a naming deficit typically implicates the left temporal region. However, the well-established finding of poor naming in those with left but not right (i.e., nondominant) hemisphere seizures in monolingual patients is unreliable in bilingual adults with epilepsy, despite proficiency in the language tested. We aimed to examine naming performance and its relation with seizure lateralization in bilingual children with epilepsy.</p><p><strong>Methods: </strong>This multisite study included 57 bilingual and 202 monolingual pediatric epilepsy patients, aged 6-17 years. All patients underwent neuropsychological evaluation including assessment of auditory and visual object naming in English.</p><p><strong>Results: </strong>In the context of age-appropriate English expressive vocabulary skills, bilingual children with epilepsy demonstrated significantly weaker auditory and visual naming than monolingual patients. Additionally, unlike monolingual patients, who showed poorer naming among those with left compared to those with right hemisphere seizures, bilingual children with unilateral left and right hemisphere seizures demonstrated similarly weak naming performances. Furthermore, naming score cutoffs failed to differentiate individual bilingual patients with left versus right hemisphere seizure onset as they did among monolingual patients.</p><p><strong>Significance: </strong>Despite conversational proficiency and normal English expressive vocabulary, the relation between seizure laterality and naming performance demonstrated in monolingual children with unilateral seizures was not observed in a comparable group of bilingual children. Consequently, poor naming performance in bilingual children with epilepsy may be misinterpreted, most seriously in those with nondominant hemisphere seizures, as scores may be erroneously interpreted to reflect dominant hemisphere seizure involvement, potentially leading to unnecessary invasive and costly procedures. Results suggest cautious interpretation of naming performance in bilingual children with epilepsy.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143691111","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}

{"title":"Clinical phenotypic spectrum of NRXN1 microdeletions and their association with epilepsy: A systematic review and meta-analysis.","authors":"Xintong Guo, Chengzhe Wang, Dingju Long, Heyu Zhang, Sijing Yin, Xinxin Peng, Yicong Liu, Siqing Chen, Yue Liu, Wenyao Huang, Jinming Zhang, Jingjing Chen, Guanzhong Ni, Ziyi Chen","doi":"10.1111/epi.18337","DOIUrl":"https://doi.org/10.1111/epi.18337","url":null,"abstract":"<p><strong>Objective: </strong>NRXN1 microdeletions are associated with an increased genetic risk for various neuropsychiatric disorders, with diverse breakpoints complicating research, diagnosis, and treatment. This study aims to investigate the deletion rate and penetrance of NRXN1 microdeletions across different clinical phenotypes through meta-analysis while exploring their relationship with epilepsy and summarizing the characteristics of NRXN1 biallelic variations.</p><p><strong>Methods: </strong>For meta-analysis, a systematic review of published studies was conducted to calculate NRXN1 microdeletion rates and penetrance across different disorders, with comparisons to control groups. For systematic review, data from 401 cases across 57 studies were analyzed to compare microdeletion characteristics in patients with and without epilepsy, alongside a review of NRXN1 biallelic variation clinical features.</p><p><strong>Results: </strong>NRXN1 microdeletion carriers had a 3.20-fold higher disease risk compared to noncarriers. The deletion rate was elevated in patients with autism, schizophrenia, and Tourette syndrome relative to controls. Additionally, NRXN1 microdeletions were more prevalent in epilepsy patients with comorbidities than in those with epilepsy alone. Among epilepsy patients, 81.3% had comorbidities. Deletions involving exons 1-6 were more frequent in patients with epilepsy, of whom 71.42% were diagnosed with genetic generalized epilepsy (GGE). Among those with NRXN1 biallelic variations, 53.84% had epilepsy, and all experienced generalized seizures.</p><p><strong>Significance: </strong>Understanding genotype-phenotype associations in NRXN1 microdeletion-related diseases is critical for early diagnosis and management. Our study shows that NRXN1 microdeletions have been associated with various neuropsychiatric disorders and exhibit incomplete penetrance. In epilepsy, patients with NRXN1 microdeletions are associated with mental comorbidities and generalized seizure types, particularly involving exon 1-6 deletions, and are common in patients with GGE.</p>","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143691126","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}