Epileptic Disorders最新文献

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Uncovering common genetic risk factors in migraine and epilepsy through whole exome sequencing 通过全外显子组测序揭示偏头痛和癫痫的共同遗传危险因素。
IF 2.7 4区 医学
Epileptic Disorders Pub Date : 2026-04-15 Epub Date: 2025-12-12 DOI: 10.1002/epd2.70147
Prachi Sahu, Sohit Kashyap, Anil Kumar, Anjana Munshi
{"title":"Uncovering common genetic risk factors in migraine and epilepsy through whole exome sequencing","authors":"Prachi Sahu,&nbsp;Sohit Kashyap,&nbsp;Anil Kumar,&nbsp;Anjana Munshi","doi":"10.1002/epd2.70147","DOIUrl":"10.1002/epd2.70147","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Migraine and epilepsy are distinct neurological disorders that co-occur as comorbid conditions as well. Despite their clinical differences, these disorders exhibit some overlapping symptoms and share underlying pathophysiological mechanisms driven by a common genetic contribution.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>The current study aimed to explore the genetic predisposition associated with epilepsy, migraine, and their comorbidity in both familial and sporadic cases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Whole exome sequencing carried out in 191 individuals, comprising familial and sporadic cases diagnosed with migraine (<i>n</i> = 63), epilepsy (<i>n</i> = 62), and comorbid (<i>n</i> = 39) involving unaffected first-degree relatives (<i>n</i> = 16) and healthy controls (<i>n</i> = 11). Variant interpretation was performed in accordance with the American College of Medical Genetics and Genomics (ACMG) guidelines. Segregation analysis was carried out by Sanger sequencing.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Clinically relevant pathogenic and likely pathogenic variants were observed in the genes associated with ion channel functioning and neurotransmitter regulation in migraine as well as in epilepsy. Apart from these, variations in other genes regulating glucose transport, synaptic organization and signaling were also identified. In the epilepsy group, variants were detected in sodium channel genes (SCN1A, SCN1B, SCN2A), G protein-coupled receptor (ADGRV1), GLUT-1, and GABA transporters (SLC2A1, SLC6A1), synaptic transporter (STXBP1), and others (ICK, EFHC1, SETD1B, and DEPDC5). In the migraine group, genes including ion channel encoding gene (SCN9A, ATP1A2), GABA receptor-encoding gene (GABRA5) were noted. In individuals with migraine and epilepsy comorbidity alterations were observed in ion channel encoding gene (SCN1A, KCNMA1, and KIF1A) and other gene (COL4A1) highlighting that ion channel genes are common genetic markers shared by all three disorders.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The identified variants predominantly involve genes encoding sodium, potassium, and GABA receptors that result in ion channel dysfunction and neurotransmitter imbalance. These findings highlight shared molecular pathways contributing to the pathogenesis of epilepsy, migraine, and their comorbidity. The convergence of genetic factors suggests potential avenues for the development of unified therapeutic strategies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"28 2","pages":"314-332"},"PeriodicalIF":2.7,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145745410","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}
引用次数: 0
A temporary spike: Investigating Lennox–Gastaut syndrome incidence in the US following FDA approval of cannabidiol 暂时的高峰:在FDA批准大麻二酚后,调查lenox - gastaut综合征在美国的发病率。
IF 2.7 4区 医学
Epileptic Disorders Pub Date : 2026-04-15 Epub Date: 2026-01-03 DOI: 10.1002/epd2.70168
Kaley J. Marcinski Nascimento, Yifan Li, Binx Y. Lin, Tracy Dixon-Salazar, M. Scott Perry, Kevin Young Xu, Fábio A. Nascimento
{"title":"A temporary spike: Investigating Lennox–Gastaut syndrome incidence in the US following FDA approval of cannabidiol","authors":"Kaley J. Marcinski Nascimento,&nbsp;Yifan Li,&nbsp;Binx Y. Lin,&nbsp;Tracy Dixon-Salazar,&nbsp;M. Scott Perry,&nbsp;Kevin Young Xu,&nbsp;Fábio A. Nascimento","doi":"10.1002/epd2.70168","DOIUrl":"10.1002/epd2.70168","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>In June 2018, the US Food and Drug Administration (FDA) approved pharmaceutical grade cannabidiol (CBD; Epidiolex®) for the treatment of seizures associated with Lennox–Gastaut syndrome (LGS). We sought to examine whether the FDA approval of CBD was associated with changes in LGS diagnostic practices in the United States.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We computed the annual number of new LGS diagnoses in the United States from 2017 to 2023 using a large, population-based database of electronic health records.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We identified a temporary increase in the number of new LGS diagnoses in 2019: the incidence rate rose by roughly 30% from 2018 to 2019, and almost 60% from 2017 to 2019, before it returned to pre-FDA CBD approval baseline (2020–2023).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>This temporary increase occurred in temporal proximity to the 2018 FDA approval of CBD for LGS. While causality cannot be inferred, this descriptive finding may reflect a confluence of factors including patient–caregiver interest and clinician practices to gain access to CBD. Clinician practices may have involved applying/updating LGS ICD codes to patients previously diagnosed with LGS and misdiagnosing patients with severe epilepsies as LGS. These findings underscore the clinical and research importance of appropriately using the LGS ICD code and ensuring accurate, reliable diagnosis of LGS based on standardized, well-defined criteria. Nevertheless, given this work's reliance on administrative data, readers should interpret results cautiously, as misclassification and inconsistent coding practices can influence epidemiologic estimates and research conclusions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"28 2","pages":"420-426"},"PeriodicalIF":2.7,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145893512","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}
引用次数: 0
“Who ‘nose’ when a seizure will happen?” Prodromal olfactory loss as a first clinical indicator of seizure activity in temporal lobe epilepsy “当癫痫发作时,谁会‘鼻子’呢?”前驱嗅觉丧失作为颞叶癫痫发作活动的第一临床指标。
IF 2.7 4区 医学
Epileptic Disorders Pub Date : 2026-04-15 Epub Date: 2025-12-04 DOI: 10.1002/epd2.70143
Mohammed Saqer Alshammari, Hasan Mohammed Daghriri, Muteb Mohammed Aldawsari, Gamal Mohamed, Ayman A. AbdelHamid, Jackie Y. Ying, Sasha Dionisio
{"title":"“Who ‘nose’ when a seizure will happen?” Prodromal olfactory loss as a first clinical indicator of seizure activity in temporal lobe epilepsy","authors":"Mohammed Saqer Alshammari,&nbsp;Hasan Mohammed Daghriri,&nbsp;Muteb Mohammed Aldawsari,&nbsp;Gamal Mohamed,&nbsp;Ayman A. AbdelHamid,&nbsp;Jackie Y. Ying,&nbsp;Sasha Dionisio","doi":"10.1002/epd2.70143","DOIUrl":"10.1002/epd2.70143","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Olfactory dysfunction is well documented in neurological diseases, including temporal lobe epilepsy (TLE), where it may reflect dysfunction of limbic structures integral to both olfaction and seizure generation. While olfactory auras are classically recognized, their predictive utility in the preictal period remains unexplored. This study investigates transient olfactory impairment as a time-sensitive prodromal marker preceding seizure onset in patients with TLE.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Fifteen adults with confirmed or strongly suspected TLE were prospectively enrolled during admission to the Epilepsy Monitoring Unit at King Faisal Specialist Hospital and Research Centre in 2024. Olfactory function was assessed using the University of Pennsylvania Smell Identification Test (UPSIT) at baseline and every 6–8 h until seizure onset. Logistic regression was used to evaluate the association between olfactory dysfunction and time to seizure.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Seven of fifteen patients (46.7%) exhibited olfactory impairment prior to seizure onset. These patients experienced significantly shorter intervals between the last test and seizure onset (mean = 1.6 h) compared to those without impairment (mean = 4.1 h, <i>p</i> = 0.0145). Logistic regression revealed a significant inverse association between time and olfactory dysfunction likelihood (OR = 0.33 per hour, 95% CI: 0.09–0.73, <i>p</i> = 0.027), indicating olfactory impairment was more likely closer to seizure onset.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>This study is the first to quantitatively link prodromal olfactory dysfunction to seizure onset in TLE, identifying it as a potentially accessible, low-cost, non-invasive biomarker. These findings suggest a novel adjunct for seizure forecasting, and support future development of olfaction-based prediction strategies. Larger scale studies are warranted to validate these results and investigate underlying mechanisms connecting olfactory circuits with ictogenesis.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"28 2","pages":"295-303"},"PeriodicalIF":2.7,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145670729","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}
引用次数: 0
The usefulness of intraoperative electrocorticography (iECoG) in pediatric temporal lobe epilepsy surgery 术中皮质电图(iECoG)在小儿颞叶癫痫手术中的应用。
IF 2.7 4区 医学
Epileptic Disorders Pub Date : 2026-04-15 Epub Date: 2026-01-12 DOI: 10.1002/epd2.70160
Rafael Andrade Cruz, João Paulo Sant’ Ana Santos de Souza, Davi Casale Aragon, Úrsula Thomé Costa, Ana Paula Andrade Hamad, Américo Ceiki Sakamoto, Antônio Carlos dos Santos, Hélio Rubens Machado, Marcelo Volpon Santos
{"title":"The usefulness of intraoperative electrocorticography (iECoG) in pediatric temporal lobe epilepsy surgery","authors":"Rafael Andrade Cruz,&nbsp;João Paulo Sant’ Ana Santos de Souza,&nbsp;Davi Casale Aragon,&nbsp;Úrsula Thomé Costa,&nbsp;Ana Paula Andrade Hamad,&nbsp;Américo Ceiki Sakamoto,&nbsp;Antônio Carlos dos Santos,&nbsp;Hélio Rubens Machado,&nbsp;Marcelo Volpon Santos","doi":"10.1002/epd2.70160","DOIUrl":"10.1002/epd2.70160","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study aimed to evaluate the usefulness of intraoperative electrocorticography (iECoG) in providing a more accurate surgical strategy, thereby yielding seizure freedom following resective surgery in children with temporal lobe epilepsy (TLE).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The authors conducted a retrospective review of pediatric patients with drug-resistant TLE due to various etiologies, within a relatively long follow-up (range 8.5–11.5 years). Patients were divided into two groups based on whether they were operated on using iECoG or not, which was employed in cases of uncertain delineation of the EZ or anticipated extended resection. The efficacy of surgical treatment was assessed using Engel's classification. Seizure-freedom rate for each etiology was compared between groups using Fisher's exact test with a 95% confidence interval.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 81 patients were included in the study (mean age 11.8 years, range 1–18 years), of whom 63 (77.8%) achieved Engel I status after 10 years. The main etiology was hippocampal sclerosis (34/81, 41.9%), followed by tumors (25/81, 30.8%) and focal cortical dysplasia (22/81, 27.1%). iECoG was performed in 29 (35.8%) patients. Overall, there were no significant differences in the proportion of Engel I (<i>p</i> = .78) among those who performed iECoG (22/29, 75.9%) and did not perform iECoG (<i>n</i> = 41/52, 78.8%). Among tumor-associated cases, Engel I was achieved in 100% of patients with iECoG, compared with 76.5% without iECoG (<i>p</i> = .27). No significant differences were observed in focal cortical dysplasia (<i>p</i> = .61) or hippocampal sclerosis (<i>p</i> = .35).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>The study did not show that intraoperative iECoG improved Engel class I outcomes. Refinement of iECoG methods and future studies controlling for confounders are warranted.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"28 2","pages":"401-408"},"PeriodicalIF":2.7,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.70160","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145953545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
First-line infusion therapies in refractory status epilepticus: A retrospective comparison of outcomes between midazolam and propofol in 7446 patients 顽固性癫痫持续状态的一线输液治疗:7446例患者咪达唑仑和异丙酚的回顾性比较。
IF 2.7 4区 医学
Epileptic Disorders Pub Date : 2026-04-15 Epub Date: 2026-01-12 DOI: 10.1002/epd2.70174
Isaac B. Thorman, Ariel Sacknovitz, Richard Wang, Patricia E. McGoldrick, Michael C. Schubert, Stephan A. Mayer, Carrie R. Muh, Steven M. Wolf
{"title":"First-line infusion therapies in refractory status epilepticus: A retrospective comparison of outcomes between midazolam and propofol in 7446 patients","authors":"Isaac B. Thorman,&nbsp;Ariel Sacknovitz,&nbsp;Richard Wang,&nbsp;Patricia E. McGoldrick,&nbsp;Michael C. Schubert,&nbsp;Stephan A. Mayer,&nbsp;Carrie R. Muh,&nbsp;Steven M. Wolf","doi":"10.1002/epd2.70174","DOIUrl":"10.1002/epd2.70174","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Refractory status epilepticus (RSE) is a medical emergency defined as “status epilepticus persisting despite administration of at least 2 appropriately selected and dosed parenteral medications including a benzodiazepine.” Control of RSE is critical to avoid irreversible neuronal damage, with midazolam and propofol as the most commonly used agents. This study evaluates the effectiveness of midazolam versus propofol in preventing mortality and complications of RSE.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Patients from the TriNetX Research Network who received either midazolam or propofol monotherapy on the day of RSE onset were included. Outcomes were assessed at 30 days and maximal follow-up (≤20 years) using Cox proportional hazard models. Propensity score matching (1:1) controlled for demographics and 93 comorbidities from the Charlson Comorbidity Index.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 117 736 patients with RSE, 5310 received midazolam and 2136 received propofol. Midazolam was associated with significantly decreased hazards of mortality at 30 days (HR = 0.509 [95% CI: 0.397, 0.653]) but not at maximal follow-up (HR = 0.922 [0.797, 1.067]). Midazolam was also associated with significantly reduced hazards of lactic acidosis (HR = 0.537 [0.427, 0.674]), rhabdomyolysis (HR = 0.295 [0.150, 0.578]), hypertriglyceridemia (HR = 0.316 [0.135, 0.740]), tracheostomy (HR = 0.633 [0.438, 0.916]), PEG placement (HR = 0.519 [0.371, 0.725]), and mechanical ventilation (HR = 0.313 [0.265, 0.370]). Among patients with a traumatic brain injury in the week prior to RSE, midazolam was associated with a significantly lower hazard of 30-day mortality (HR = 0.381 [0.136, 0.993]), while the hazards were not significantly changed in patients with CNS infections (HR = 1.150 [0.351, 3.768]) or cerebrovascular disease (HR = 0.656 [0.421, 1.025]) in the week prior to RSE onset.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>Midazolam monotherapy for RSE was associated with decreased mortality and adverse effects compared to propofol monotherapy in the short term, but relatively equivalent in the long term. Prospective comparative trials are needed to ascertain superiority of either intervention in reducing morbidity and mortality in patients with RSE.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"28 2","pages":"448-456"},"PeriodicalIF":2.7,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145953583","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}
引用次数: 0
Thalamic responsive neurostimulation signals and seizure semiology in pediatric patients 儿科患者丘脑反应性神经刺激信号和癫痫符号学。
IF 2.7 4区 医学
Epileptic Disorders Pub Date : 2026-04-15 Epub Date: 2026-01-07 DOI: 10.1002/epd2.70170
Sharon John, Ryan Chan, Paul Teng, Alizabeth York, Ariel Sacknovitz, Carrie Muh, Patricia McGoldrick, Steven Wolf
{"title":"Thalamic responsive neurostimulation signals and seizure semiology in pediatric patients","authors":"Sharon John,&nbsp;Ryan Chan,&nbsp;Paul Teng,&nbsp;Alizabeth York,&nbsp;Ariel Sacknovitz,&nbsp;Carrie Muh,&nbsp;Patricia McGoldrick,&nbsp;Steven Wolf","doi":"10.1002/epd2.70170","DOIUrl":"10.1002/epd2.70170","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To identify correlations between thalamic electroencephalographic (EEG) signal patterns and clinical seizure semiology in pediatric patients with drug-resistant epilepsy (DRE) treated with responsive neurostimulation (RNS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a retrospective analysis of 14 pediatric patients (≤17 years old) with DRE who received thalamic RNS implants. EEG recordings from the RNS Patient Data Management System were reviewed and correlated with seizure semiology obtained from medical records and structured family interviews. Patterns between seizure types, EEG onset signals, and electrode placement were examined.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Absence seizures were associated with bilateral 3 Hz delta spike-wave complexes in the centromedian (CM) nucleus. Drop seizures corresponded with bilateral hypersynchronous slow-to-fast gamma activity, primarily in patients with CM or anterior nucleus leads. Generalized tonic–clonic seizures exhibited the greatest variability, with gamma-to-delta transitions, synchronous gamma waves, or asynchronous slow-to-gamma patterns depending on whether leads were placed in the CM or pulvinar nuclei. These EEG patterns were consistent within nuclei, suggesting semiology-specific thalamic activity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>This study demonstrates that seizure onset EEG signals are nucleus- and semiology-specific in pediatric patients receiving thalamic RNS therapy. These findings highlight the CM nucleus's central role in seizure propagation and support individualized RNS programming based on EEG frequency signatures. While limited by sample size, this work provides early evidence that thalamic EEG biomarkers can inform more precise neuromodulation strategies for pediatric DRE.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"28 2","pages":"427-434"},"PeriodicalIF":2.7,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145919011","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}
引用次数: 0
Bilateral ictal eye closure in focal epileptic seizures: SEEG retrospective observational assessment from a tertiary epilepsy center. 局灶性癫痫发作的双侧头侧闭眼:来自三级癫痫中心的SEEG回顾性观察评估。
IF 2.7 4区 医学
Epileptic Disorders Pub Date : 2026-04-13 DOI: 10.1002/epd2.70246
Paola Vassallo, Christina Pourlou, Joana F A Oliveira, Davide Giampiccolo, Charlotte McLaughlin, Emma Torzillo, Umair Javaid Chaudhary, John S Duncan, Josemir W Sander, Fahmida Chowdhury, Beate Diehl
{"title":"Bilateral ictal eye closure in focal epileptic seizures: SEEG retrospective observational assessment from a tertiary epilepsy center.","authors":"Paola Vassallo, Christina Pourlou, Joana F A Oliveira, Davide Giampiccolo, Charlotte McLaughlin, Emma Torzillo, Umair Javaid Chaudhary, John S Duncan, Josemir W Sander, Fahmida Chowdhury, Beate Diehl","doi":"10.1002/epd2.70246","DOIUrl":"https://doi.org/10.1002/epd2.70246","url":null,"abstract":"<p><p>Ictal eye closure is commonly associated with functional seizures but may also occur in epileptic seizures. We retrospectively reviewed 113 consecutive stereo-EEG (SEEG) recordings from adults with drug-resistant focal epilepsy (2015-2024) to identify prolonged bilateral eye closure during seizures. Nine individuals exhibited this through 17 seizures; eight seizures arose from sleep. Inter-rater reliability was good (ICC = 0.72). The median age was 35 years, and the epilepsy duration was 25 years. Eye closure started mainly at EEG onset and persisted for approximately 50% of the seizure. Consciousness was impaired in seven seizures and preserved in three. Presumed epileptogenic zones were unilateral in eight people and uncertain in one, involving various cortical and subcortical areas. Seven of them were offered surgical resection or laser interstitial thermal therapy (LITT). Ictal eye closure showed no clear localizing or lateralizing value, likely due to widespread network involvement. It may reflect disruption of sensory, executive, or arousal systems. SEEG spatial sampling limitations could have affected the detection of involved areas. Further prospective studies are needed to clarify its clinical significance.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147678281","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}
引用次数: 0
Transition from adolescence to adulthood: Dedicated health services for young people with epilepsy in Italy. 从青春期到成年期的过渡:意大利为患有癫痫的青年提供专门的卫生服务。
IF 2.7 4区 医学
Epileptic Disorders Pub Date : 2026-04-11 DOI: 10.1002/epd2.70239
Ilaria Viganò, Ilaria Venezia, Maurizio Bonati, Antonio Clavenna, Francesca Scarpellini, Elisa Roberti, Stefania Bergamoni, Elisabetta Cesaroni, Francesca Ragona, Chiara Pastori, Elena Freri, Monica Brioschi, Floriana Ferro, Federica De Martino, Silvia Cappanera, Sabrina Siliquini, Susanna Casellato, Tiziana Granata, Carla Marini, Aglaia Vignoli, Emilia Ricci, Maria Paola Canevini
{"title":"Transition from adolescence to adulthood: Dedicated health services for young people with epilepsy in Italy.","authors":"Ilaria Viganò, Ilaria Venezia, Maurizio Bonati, Antonio Clavenna, Francesca Scarpellini, Elisa Roberti, Stefania Bergamoni, Elisabetta Cesaroni, Francesca Ragona, Chiara Pastori, Elena Freri, Monica Brioschi, Floriana Ferro, Federica De Martino, Silvia Cappanera, Sabrina Siliquini, Susanna Casellato, Tiziana Granata, Carla Marini, Aglaia Vignoli, Emilia Ricci, Maria Paola Canevini","doi":"10.1002/epd2.70239","DOIUrl":"https://doi.org/10.1002/epd2.70239","url":null,"abstract":"<p><strong>Objective: </strong>The transition from pediatric to adult healthcare services is a particularly sensitive phase for young adults with chronic conditions, including epilepsy. In European countries, there is a lack of standardized protocols for an appropriate and detailed transition path. This study aimed to investigate the experiences of both patients and clinicians during the transition process to adulthood, with the goal of contributing to a nationwide consensus document to standardize practices across Italy.</p><p><strong>Methods: </strong>This multicentric, observational, prospective, qualitative study included interviews with young people who turned 18 between 2018 and 2022 belonging to four regional epilepsy centers. In addition, pediatric and adult neurologists completed questionnaires addressing epilepsy type, comorbidities, daily life impact, and details of the transition process.</p><p><strong>Results: </strong>Thirty-seven patients (92.5%) participated in the study, 34 of them began the transition process, and the remaining three included two patients who continued to receive care within pediatric services and one patient who was lost to follow up. At the time of the interview, 30 (88%) patients were still under the care of the public adult service, while one returned to the pediatric service, one was followed by a private epileptologist, and two were not under any specialist care. The study revealed significant variability in the duration of the preparatory phase, the time elapsed between referral and access to adult services, and the methods of communication/reporting. The caregivers of patients with epilepsy and associated disabilities reported greater difficulty accessing referrals for multidisciplinary and specialized care for rare or complex epilepsies in adulthood.</p><p><strong>Significance: </strong>While most patients successfully transitioned, the absence of uniform, structured protocols, in particular for patients with disabilities, created a significant difference in managing transition. The study strongly underscores the urgent need for standardized, shared national guidelines to ensure a consistent, equitable, and effective transition from pediatric to adult epilepsy care across Italy.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147662615","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}
引用次数: 0
Prolonged ictal and post-ictal central apnea in an epileptic seizure. 癫痫发作时发作期和发作后中枢性呼吸暂停延长。
IF 2.7 4区 医学
Epileptic Disorders Pub Date : 2026-04-09 DOI: 10.1002/epd2.70247
Wei Zhao, Alena Berkhamova, Rabeha Noor, Abdulrahman Alwaki, Elli Allen
{"title":"Prolonged ictal and post-ictal central apnea in an epileptic seizure.","authors":"Wei Zhao, Alena Berkhamova, Rabeha Noor, Abdulrahman Alwaki, Elli Allen","doi":"10.1002/epd2.70247","DOIUrl":"https://doi.org/10.1002/epd2.70247","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147640503","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}
引用次数: 0
Induction of cytochrome P450 2C9 and P-glycoprotein activity by antiseizure medications: A systematic review and network meta-analysis. 抗癫痫药物诱导细胞色素P450 2C9和p -糖蛋白活性:一项系统综述和网络荟萃分析。
IF 2.7 4区 医学
Epileptic Disorders Pub Date : 2026-04-08 DOI: 10.1002/epd2.70232
Hagar Cohen, Nahawand Bahash, Tomer Ben-Shushan, Ilan Matok, Sara Eyal
{"title":"Induction of cytochrome P450 2C9 and P-glycoprotein activity by antiseizure medications: A systematic review and network meta-analysis.","authors":"Hagar Cohen, Nahawand Bahash, Tomer Ben-Shushan, Ilan Matok, Sara Eyal","doi":"10.1002/epd2.70232","DOIUrl":"https://doi.org/10.1002/epd2.70232","url":null,"abstract":"<p><strong>Objectives: </strong>Antiseizure medications (ASMs) can induce the activity of drug-metabolizing enzymes and drug transporters, including cytochrome P450 (CYP)2C9 and P-glycoprotein (P-gp). Our objective was to comparatively assess the effects of ASMs on exposure to clinical CYP2C9 and P-gp substrates.</p><p><strong>Methods: </strong>This systematic review and network meta-analysis (NMA) was registered in PROSPERO (CRD42023473609) and performed following PRISMA 2020 guidelines. MEDLINE, EMBASE, and Cochrane Library were searched until October 22, 2025, with additional searches conducted in the FDA and EMA databases and ClinicalTrial.gov. Studies were included if they were prospective and the ASM was used as monotherapy for ≥5 days. The primary endpoint was the substrate area under the curve ratio (AUCR) with/without the ASM. Treatments were ranked by P-scores (range 0-1, higher values reflect stronger induction). The point estimate for indirect pairwise comparisons was the standardized mean difference (SMD). Bias risk was assessed using the PKclin tool.</p><p><strong>Results: </strong>Twelve and six interventional pharmacokinetic studies with 227 and 97 participants were included in the CYP2C9 and P-gp NMAs, respectively. The ASM with the greatest CYP2C9 induction potential was carbamazepine (600 mg/day, P-score .78). The only statistically significant effect size estimate for CYP2C9 was obtained in the comparison between carbamazepine 600 mg/day and cenobamate 200 mg/day (SMD -.42; CI -.76, -.09). Carbamazepine (300 or 600 mg/day) was also the strongest P-gp inducer (P-scores, .79 and .55, respectively). The effects of its two doses did not differ, and 300 mg/day had a stronger effect on P-gp compared with the other ASMs.</p><p><strong>Significance: </strong>Despite variability in populations, substrate drugs, and doses, our findings demonstrate that carbamazepine is an inducer at 300 mg/day, and that ASMs can rank differently as CYP2C9 versus P-gp inducers. Therefore, the safety of ASM polytherapy cannot be extrapolated from one pathway to another for treatment selection, for example, for post-stroke epilepsy.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147635189","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}
引用次数: 0
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