Epileptic Disorders最新文献

{"title":"Empagliflozin in Lafora disease: A first-in-human 6-month pilot study with electroclinical and FDG-PET findings.","authors":"Giuseppe d'Orsi, Antonella Liantonio, Paola Imbrici, Graziano Lolli, Giorgia Dinoi, Elena Conte, Cosimo Damiano Altomare, Filomena Ciccone, Ezio Calò, Elio Perrone, Giulia Cazzanelli, Massimo Carella","doi":"10.1002/epd2.70442","DOIUrl":"https://doi.org/10.1002/epd2.70442","url":null,"abstract":"<p><strong>Objective: </strong>Lafora disease (LD) is a rare, fatal neurodegenerative epilepsy with no approved treatments. Empagliflozin, a sodium-glucose cotransporter-2 (SGLT2) inhibitor, has shown neuroprotective actions in preclinical models through modulation of glycogen metabolism, induction of a pseudo-ketogenic state, improved mitochondrial efficiency, and reduction of excitatory neurotransmission. Based on this rationale, we conducted a first-in-human pilot study of empagliflozin in two genetically confirmed LD patients.</p><p><strong>Methods: </strong>Two patients with genetically confirmed LD received empagliflozin 10 mg/day for 6 months. Serial assessments included safety and tolerability, seizure frequency, myoclonus severity, electroencephalographic findings, neuropsychological and motor evaluations, brain MRI, and quantitative FDG-PET with regional Z-score analysis.</p><p><strong>Results: </strong>Empagliflozin was safe and well tolerated, with no serious adverse events. Seizure frequency, myoclonus, and overall clinical status remained largely stable over 6 months, although some neuropsychological and motor measures showed variable changes between patients. EEG background activity and spike index were largely unchanged. Brain MRI showed stable mild cortical atrophy in both patients. In contrast, FDG-PET revealed progressive and spatially expanding cerebral hypometabolism in both patients, with worsening regional Z-scores, particularly in the parietal and precuneus regions.</p><p><strong>Significance: </strong>In this first-in-human, 6-month pilot study, empagliflozin showed acceptable short-term safety and feasibility in LD, but no definitive conclusions on efficacy can be drawn. The dissociation between relative electroclinical stability and progressive metabolic impairment suggests that quantitative FDG-PET may represent a sensitive biomarker for monitoring disease trajectory in this ultra-rare epilepsy.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149197579","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":"Resective epilepsy surgery in an adult with ARID1B-related disorder and focal cortical dysplasia type IIb.","authors":"Émile Moura Coelho da Silva, Ibrahim Lafi, David Rodriguez-Buritica, Jessica Johnson, Nitin Tandon, Samden Lhatoo","doi":"10.1002/epd2.70444","DOIUrl":"https://doi.org/10.1002/epd2.70444","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149197546","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":"Affective symptoms in focal epilepsy: A scoping review of localization and lateralizing findings.","authors":"S S Sanchez-Boluarte, A Lagunas, E Acton, S Guevara-Lazo, E Carrazana, B Freund, F A Nascimento, S Beniczky, W O Tatum","doi":"10.1002/epd2.70438","DOIUrl":"https://doi.org/10.1002/epd2.70438","url":null,"abstract":"<p><p>Emotional experiences during focal seizures are often misinterpreted as psychiatric disorders. We aimed to evaluate symptoms involving affective symptoms at seizure onset. We aimed to identify the most prevalent affective symptoms at seizure onset and characterize their localizing and lateralizing value. We performed a scoping review based on Preferred Reporting Items for Systematic reviews and Meta-Analyses-extension for Scoping Reviews guidelines. A systematic search identified records from 4 databases: PubMed, Embase, CINAHL (via EBSCOhost), and Web of Science. Two reviewers independently screened titles/abstracts and full texts; discrepancies were resolved by consensus. This review focused on patients with focal seizures, as affective symptoms may occur in generalized epilepsies. The affective symptoms: fear, anxiety, panic, sadness, mystic, ecstatic, sexual, and mirth were identified, and semiology was evaluated in accordance with ILAE guidelines. Symptom onset, frequency, brain localization, and video-EEG monitoring technique were evaluated to assess localization and lateralization of regional networks. Scalp EEG, invasive EEG recordings, and electrical stimulation were analyzed. A total of 1276 documents were identified, with 98 studies included for review. Fear was the most frequently reported ictal emotion, identified in 274 patients (66%), predominantly in temporal lobe epilepsy. Sadness and sexual, ecstatic symptoms were also consistently associated with temporal networks. Mirth was more frequently reported with frontal onset seizures. Evidence, primarily from Class IV studies, reported right hemispheric predominance for ecstasy, mystic, and sexual symptoms at seizure onset. Ictal affective symptoms at seizure onset yield localizing information. The limbic system, especially the temporal lobe, followed by the frontal lobe, was the most common site of origin. Fear was the most common spontaneous and electrically elicited symptom, followed by anxiety. While bi-hemispheric lateralization occurred, right lateralization predominated. Recognizing paroxysmal affective symptoms as ictal phenomena may reduce misdiagnosis and aid presurgical evaluation in drug-resistant focal epilepsy.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149185887","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":"Development and external validation of a nomogram for predicting in-hospital mortality in status epilepticus patients in the intensive care unit: A MIMIC-IV and eICU-CRD study.","authors":"Yin Fangzhao, Wang Yudan, Cui Deqiu","doi":"10.1002/epd2.70437","DOIUrl":"https://doi.org/10.1002/epd2.70437","url":null,"abstract":"<p><strong>Objective: </strong>To develop and externally validate a nomogram for predicting in-hospital mortality in ICU patients with SE, using readily available clinical data collected within the first 24 h of ICU admission.</p><p><strong>Methods: </strong>We identified adult SE patients from MIMIC-IV (training cohort, 2008-2019) using ICD-9/ICD-10 codes. Twenty-seven candidate predictors were screened by LASSO logistic regression with 10-fold cross-validation. The final model was constructed with multivariable logistic regression and presented as a nomogram. Internal validation used 1000 bootstrap resamples with optimism correction. External validation was performed in an independent SE cohort from the eICU-CRD database (2014-2015).</p><p><strong>Results: </strong>The training cohort comprised 299 patients (69 deaths, 23.1% mortality). LASSO selected nine predictors: age, first ICU care unit, Glasgow Coma Scale, temperature, SpO₂, white blood cell count, glucose, bicarbonate, and the Elixhauser comorbidity index. The optimism-corrected AUC was .807 (95% CI, .754-.860) with a Brier score of .124. External validation in 597 eICU patients yielded an AUC of .750 (95% CI, .685-.815). In sensitivity analyses, a reduced model without the comorbidity score achieved an optimism-corrected AUC of .786 and an external AUC of .730, and a model without the ICU care-unit type achieved .817 and .764, respectively.</p><p><strong>Significance: </strong>This nine-variable nomogram provides a validated, bedside-applicable tool for mortality risk stratification in ICU SE patients, enabling manual risk calculation without electronic computation.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149185166","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":"Chronic phenytoin toxicity presenting with asterixis, cerebellar signs, and encephalopathy.","authors":"Tatsuya Ueno","doi":"10.1002/epd2.70436","DOIUrl":"https://doi.org/10.1002/epd2.70436","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149185125","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":"An interview with Ahmed Gaballa, the 2026 Epileptic Disorders prize winner.","authors":"Ahmed Gaballa","doi":"10.1002/epd2.70432","DOIUrl":"https://doi.org/10.1002/epd2.70432","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149185212","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":"Taking a clinical history in adolescents and adults presenting with seizures or epilepsy.","authors":"Athanasios Gaitatzis, Sándor Beniczky, Josemir W Sander, Piero Perucca, Alexandra Seewann","doi":"10.1002/epd2.70368","DOIUrl":"https://doi.org/10.1002/epd2.70368","url":null,"abstract":"<p><p>Despite advances in EEG, neuroimaging, and other diagnostic technologies, a carefully obtained clinical history remains the cornerstone of diagnosis, classification, and treatment planning. However, structured guidance on history-taking that integrates state-of-the-art evidence and the updated 2025 International League Against Epilepsy (ILAE) seizure classification is limited. We performed a review of evidence published between January 2000 and April 2026, supplemented by landmark earlier studies, ILAE position papers, and National Institute for Health and Care Excellence (NICE) guidelines. Evidence was synthesized to develop a practical framework for obtaining and interpreting the clinical history in adolescents and adults presenting with a first seizure, recurrent seizures, or established epilepsy. We present a structured approach that follows the sequence of a clinical consultation, encompassing the presenting complaint, detailed event reconstruction, semiology, collateral witness accounts, smartphone video recordings, seizure triggers and temporal patterns, past medical history, medication review, family history, social factors, and safety issues. We discuss the diagnostic value of individual history elements, practical strategies for distinguishing epileptic seizures from functional/dissociative seizures and syncope, and the contribution of history-taking to seizure classification under the updated 2025 ILAE framework. We also summarize clinically relevant risk factors, comorbidities, and management implications that influence diagnostic accuracy and individualized care. Practical diagnostic questionnaires are provided to facilitate differential diagnosis and seizure classification, particularly for clinicians without specialist epilepsy expertise. A systematic clinical history, obtained from the individual and eyewitnesses and complemented by video recordings when available, remains the single most important diagnostic tool in epilepsy. Structured history-taking improves diagnostic accuracy, reduces misdiagnosis, supports accurate seizure classification, guides appropriate investigations, and provides the foundation for personalized management. This practical framework offers an evidence-based approach that can be readily incorporated into routine clinical practice and education across diverse healthcare settings.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149169015","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":"Pharmaco-resistant focal epilepsy of undetermined origin responding to corticosteroids: A clinical vignette.","authors":"Félicien Gautier, Patrice H Lalive, Pierre Mégevand","doi":"10.1002/epd2.70422","DOIUrl":"https://doi.org/10.1002/epd2.70422","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149139052","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":"Pragmatic screening for autoimmune-associated epilepsy in drug-resistant epilepsy of unknown etiology in resource-limited settings: A hypothesis-generating study.","authors":"Tomásia O de H M Frezatti, Ricardo L Saute, Veriano Alexandre Júnior, Frederico N Nakano, Marina T R P Dalio, Tonicarlo R Velasco, João P Leite, Antônio Carlos Dos Santos, Vanessa D Marques, Américo C Sakamoto","doi":"10.1002/epd2.70439","DOIUrl":"https://doi.org/10.1002/epd2.70439","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the feasibility of investigating autoimmune etiology in adults with drug-resistant epilepsy (DRE) of unknown origin in resource-limited settings and to develop a pragmatic, hypothesis-generating screening approach to guide autoantibody testing.</p><p><strong>Methods: </strong>A prospective observational study including adults with DRE of unknown etiology was conducted at a tertiary epilepsy center in Brazil. All patients underwent standardized assessment including inflammatory and autoimmunity markers, brain magnetic resonance imaging (MRI), electroencephalography (EEG), cerebrospinal fluid (CSF) analysis, and application of the APE2 and ACES scores. Clinical, laboratory, and imaging findings were analyzed in the context of published autoimmune-associated epilepsy (AAE) profiles to inform a pragmatic screening strategy.</p><p><strong>Results: </strong>Twenty-six patients (46.2% female; median epilepsy duration: 18.5 years) were included. EEG findings were nonspecific. Six patients developed mesial temporal abnormalities on follow-up MRI. CSF protein elevation was observed in 37.5%, oligoclonal bands in 13.6%, and elevated IgG index in 18.2%. Antinuclear antibodies were detected in 26.9%. APE2 score ≥ 4 was present in 57.7%, while ACES score ≥ 2 occurred in 11.5%. Due to limited access to antibody testing, only one patient underwent CSF autoantibody analysis, confirming high-titer anti-GAD65. Based on integrated clinical, laboratory, and imaging findings, a pragmatic screening algorithm was proposed to prioritize candidates for autoantibody testing.</p><p><strong>Significance: </strong>In resource-limited settings, systematic use of accessible clinical and laboratory markers may help identify patients with higher pre-test probability of AAE. A pragmatic screening approach may improve diagnostic efficiency and support individualized decision-making when comprehensive antibody testing is not readily available.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149139136","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":"Cardiac repolarization abnormalities and SUDEP risk in epilepsy.","authors":"Hakim Farah, Daoud Sawsan, Bahloul Amine, Haddar Asma, Sakka Salma, Bouattour Nadia, Farhat Nouha, Moalla Khadija Sonda, Charfi Nesrine, Smaoui Emna, Masmoudi Kaouthar, Abid Leila, Charfi Rihab, Damak Mariem","doi":"10.1002/epd2.70418","DOIUrl":"https://doi.org/10.1002/epd2.70418","url":null,"abstract":"<p><strong>Background: </strong>Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related mortality, yet its mechanisms remain complex and multifactorial. Cardiac repolarization abnormalities are proposed biomarkers, but evidence is scarce, especially in low- and middle-income countries where epilepsy is highly prevalent.</p><p><strong>Methods: </strong>We conducted a cross-sectional case-control study including 73 adults with epilepsy and 73 age- and sex-matched controls. Participants with cardiovascular risk factors or medications affecting QTc were excluded. All subjects underwent 24 h Holter ECG, and QTc values were categorized using standard cutoffs. Clinical, electroencephalographic, radiological, and therapeutic data were collected. SUDEP risk was evaluated using the SUDEP-7 inventory.</p><p><strong>Results: </strong>Patients with epilepsy had significantly longer QTc intervals than controls (mean QTc 474.1 vs. 432.9 ms, p = 0.001). QTc prolongation was more frequent in patients (47.9% vs. 15.1%, p = 0.02), and highly abnormal QTc values (>500 ms) occurred only in the epilepsy group (6.8%). The SUDEP-7 score correlated positively with QTc duration (r = 0.462, p = 0.04). Several factors were significantly associated with QTc prolongation: longer disease duration (OR = 1.10; 95% CI: 1.02-1.18; p = 0.002), carbamazepine use (OR = 2.08; 95% CI: 1.20-3.61; p = 0.009), and polytherapy (OR = 1.81; 95% CI: 1.10-2.95; p = 0.019). Higher seizure burden (≥3 GTCS/year) was strongly associated with longer QTc (p = 0.001). No significant association was found between sex, seizure type, and QTc prolongation.</p><p><strong>Significance: </strong>QTc prolongation is frequent in people with epilepsy and correlates with SUDEP-7 scores, supporting its potential value as a simple, noninvasive marker of SUDEP risk. Routine ECG monitoring, particularly in patients with established risk factors, may help identify individuals at higher risk of SUDEP and guide preventive strategies.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149117984","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}