Epileptic Disorders最新文献

{"title":"Persistence of EEG abnormalities in KCNT1-related DEE in an adult patient.","authors":"Haania Kakwan, Omar Nofal, Doyle Yuan, Irfan S Sheikh","doi":"10.1002/epd2.70018","DOIUrl":"https://doi.org/10.1002/epd2.70018","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143789258","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":"Addressing the long-term growth impact of the modified Atkins diet in pediatric epilepsy: A call for further research.","authors":"Shih-Jie Wang, Lien-Chung Wei","doi":"10.1002/epd2.70022","DOIUrl":"https://doi.org/10.1002/epd2.70022","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143784636","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 postoperative seizures in patients with adult-type diffuse gliomas: Incidence, risk factors, and clinical outcomes.","authors":"Jiajia Liu, Gan You, Shengyu Fang, Shimeng Weng, Zhong Zhang, Xing Fan, Hui Qiao","doi":"10.1002/epd2.70019","DOIUrl":"https://doi.org/10.1002/epd2.70019","url":null,"abstract":"<p><strong>Objective: </strong>The current study aimed to clarify the representation of early postoperative seizures (EPSs) in different glioma subtypes under the 2021 WHO classification, explore the risk factors for EPSs in glioma patients, and investigate the clinical impact of EPSs on seizure and survival outcomes.</p><p><strong>Methods: </strong>Data from 78 patients were analyzed. The differences in clinical-pathological features between patients with EPSs and those without were compared using appropriate statistical methods. Multivariate binary logistic regression analysis was subsequently conducted to explore potential risk factors for EPSs. Finally, the Kaplan-Meier method was applied to analyze the correlation of EPSs with progression-free survival and overall survival.</p><p><strong>Results: </strong>Early postoperative seizures occurred in 17 patients (21.8%). The incidence of EPSs was highest in patients with oligodendroglioma, IDH-mutant, and 1p/19q-codeleted (25.7%), followed by astrocytoma, IDH-mutant (20.8%), and glioblastoma, IDH-wildtype (12.5%). An extent of resection (EOR) of less than 92.24% was identified as the only independent predictor for EPSs (Odds ratio 8.490, 95% confidence interval 1.873-38.488, p = .006) through multivariate regression analysis. In addition, EPSs showed no significant impact on late postoperative seizure occurrence and survival outcome.</p><p><strong>Significance: </strong>In glioma patients, EPSs are considered neurological disorders induced by surgery-related factors rather than a tumor-related mechanism. EPSs are more prone to occur in patients with an EOR of less than 92.24%, which can contribute to improving individualized glioma management.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781725","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 and anatomical characteristics of basal temporal seizures: A systematic review.","authors":"Fabrice Bartolomei, Francesca Pizzo, Stanislas Lagarde","doi":"10.1002/epd2.70020","DOIUrl":"https://doi.org/10.1002/epd2.70020","url":null,"abstract":"<p><p>This review aimed to characterize the clinical semiology and anatomical correlates of seizures originating in the basal temporal region, an underrecognized epilepsy subtype, and to identify features that distinguish it from other forms of temporal lobe epilepsies (TLE). We performed a systematic review of the literature following PRISMA guidelines. The search included terms related to the basal temporal region (e.g., fusiform gyrus and rhinal cortex) and epilepsy, encompassing clinical, anatomical, and neurophysiological studies. Studies with video-EEG monitoring, SEEG evaluations, and surgical outcomes were prioritized. Semiological features, imaging findings, and post-surgical outcomes were extracted and analyzed. Fifteen studies encompassing 83 patients were analyzed. Most cases involved MRI-detectable lesions. Findings revealed that basal temporal seizures frequently present with language disturbances, motor phenomena, and less pronounced emotional and sensory signs compared to other TLE forms. SEEG identified epileptogenic zones predominantly in the fusiform gyrus, rhinal cortices, and parahippocampal region. Post-surgical outcomes revealed 57% of patients achieving Engel Class I results after 1 year, highlighting the potential benefits of accurate diagnosis and intervention. However, diagnostic challenges persist due to overlapping with other TLE subtypes, emphasizing the importance of advanced imaging and SEEG. Further studies are needed to refine diagnostic criteria and improve understanding of the functional implications of basal temporal epilepsies.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781722","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":"Ictal SPECT in hypothalamic lesions.","authors":"Christine Van Winssen, Poul Espino Alvarado, Jorge Burneo, David A Steven, Ana Suller-Marti","doi":"10.1002/epd2.70021","DOIUrl":"https://doi.org/10.1002/epd2.70021","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765665","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":"MECP2 duplication syndrome-Typical EEG characteristics.","authors":"Walter Otu, Ritu Sudhakaran, German Garza-Garcia, Krishna Parekh, Irfan S Sheikh","doi":"10.1002/epd2.70015","DOIUrl":"https://doi.org/10.1002/epd2.70015","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143755631","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":"Eye closure sensitivity and related EEG findings: Persistence rates and classification of epilepsy syndromes by the International League Against Epilepsy.","authors":"Dilara Mermi Dibek, Betül Baykan","doi":"10.1002/epd2.70014","DOIUrl":"https://doi.org/10.1002/epd2.70014","url":null,"abstract":"<p><strong>Background: </strong>We aimed to investigate the frequency and persistence rates of eye closure-related epileptiform EEG findings in a cohort with epilepsy and classify them according to the latest epilepsy syndrome classification by the International League Against Epilepsy (ILAE).</p><p><strong>Method: </strong>Consecutive patients referred to the EEG laboratory, showing eye closure sensitivity (ECS) and related EEG findings, were included between October 2022 and August 2024. Their epilepsy syndromes were classified according to ILAE. EEG patterns were categorized as ECS, eye-closed sensitivity, and fixation-off sensitivity (FOS). Persistence rates were calculated for each patient by examining all eye closures in the EEG records. The clinical findings and persistence rates were compared between subgroups by SPSSv26.</p><p><strong>Results: </strong>Of 5084 EEG traces, 63 (1.3%) from 35 patients with ECS and related EEG findings were included, with a mean age of 21.28 ± 8.38 years, and 68.6% of them were female. ECS was present in 85.7% of the patients, while 14.3% had eye-closed sensitivity, of which 11.1% had FOS. In the cohort, 25.7% had focal epilepsy, whereas 74.3% had generalized epilepsy. The most frequent generalized epilepsy syndrome was epilepsy with eyelid myoclonia (EEM) in 25.7%. Genetic etiology was disclosed in one patient with propionic acidemia, and another had chromosomal duplication at 8p11.21q11.1. ECS was exacerbated by hyperventilation, awakening, and intermittent photic stimulation. Photoparoxysmal response (PPR) was more frequently associated with ECS than with eye-closed sensitivity (95% vs. 5%, respectively). Although the persistence rates (mean: 47.7% ± 8.3%) did not significantly differ with respect to clinical outcomes (18% vs. 21%, p = .33), age was negatively correlated with this ratio (r = -.521, p = .002).</p><p><strong>Significance: </strong>Eye closure sensitivity and related sensitivities in EEG exhibit heterogeneity across epileptic syndromes and prognosis. Investigating ECS within the framework of the latest epilepsy syndrome classification, alongside co-occurrences of other activation methods, and calculating persistence rates may offer valuable insights for future genetic research and long-term management.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143676949","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":"Neonatal/infantile-onset genetic epilepsies: The utility of genetic testing for molecular etiology-specific diagnosis concerning therapeutic implications.","authors":"Muhittin Ozcan, Seda Kanmaz, Erdem Simsek, Dilara Ece Toprak, Cemile Büsra Olculu, Tugce Ince, Ozlem Yılmaz, Yavuz Atas, Gursel Sen, Ayca Aykut, Asude Durmaz, Hüseyin Onay, Sanem Yılmaz, Hasan Tekgul","doi":"10.1002/epd2.70012","DOIUrl":"https://doi.org/10.1002/epd2.70012","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the significance of genetic testing in neonatal- and infantile-onset genetic epilepsies (NIGEP) for enhanced molecular diagnosis with management implications.</p><p><strong>Methods: </strong>A single-center cohort of 128 patients with NIGEP (aged 0-36 months) from 2010 to 2022 was retrospectively assessed. The diagnostic utility of genetic testing, including next-generation sequencing (NGS) and chromosome-based approaches, was surveyed to determine their impact on antiseizure medication adjustments and precision medicine.</p><p><strong>Results: </strong>Molecular diagnoses were obtained in 110 patients (85.9%) using NGS and in 18 (14.1%) using chromosome-based tests, identifying pathogenic genetic variants. The most frequently identified genetic variants were SCN1A (12.2%), TSC1-2 (12.2%), ALDH7A1 (10.2%), CDKL5 (10.2%), KCNQ2 (10%), and STXBP1 (6.1%) in the neonatal- and early infantile-onset group (0-3 months); SCN1A (25.3%), TSC1-2 (11.3%), UBE3A (10.1%), and STXBP1 (3.7%) in the late infantile-onset group (>3 months). A molecular-etiopathogenetic categorization was based on the genes encoding ion channels and transporters (n = 40, 31.2%), proteins with cell functions (n = 42, 32.8%), proteins and enzymes in metabolic pathways (n = 36, 28.2%), and an undefined group (n = 10, 7.8%). The molecular-genetic diagnostic provided a potential treatment yield of 61.7% (79/128) for targeted therapy with antiseizure modification/precision therapy. The targeted therapy group demonstrated lower rates of drug-resistant epilepsy (46.7%) and developmental and epileptic encephalopathy (82.3%).</p><p><strong>Significance: </strong>The current study emphasizes the value of genetic testing in enabling the management of targeted therapies in the context of antiseizure medication modifications or precision therapy implications in the presented NIGEP cohort, contributing to more favorable outcomes.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607078","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":"Regional epilepsy: Unraveling the epileptic phenomenon.","authors":"Shreyashish Roy-Chowdhury, Elma Paredes-Aragon, Richard S McLachlan, Jorge G Burneo, David A Steven, Ana Suller Marti","doi":"10.1002/epd2.70007","DOIUrl":"https://doi.org/10.1002/epd2.70007","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617667","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":"Asymmetrical limb dystonia and hypokinesia in anti-Ma2-associated encephalitis.","authors":"Chia-Yen Lin, Hsin Tung","doi":"10.1002/epd2.70009","DOIUrl":"10.1002/epd2.70009","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607062","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}