Epilepsia Open最新文献

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Complete lesion resection and early surgical intervention are favorable factors for long-term seizure freedom in drug-resistant epileptic spasms 完全切除病变和早期手术干预是抵抗性癫痫痉挛长期发作自由的有利因素。
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-19 Epub Date: 2026-07-11 DOI: 10.1002/epi4.70305
Hua Li, Yao Wang, Qiang Guo, Junxi Chen, Kaihui Li, Danfang Li, Qinghua Tan, Jing Guo
{"title":"Complete lesion resection and early surgical intervention are favorable factors for long-term seizure freedom in drug-resistant epileptic spasms","authors":"Hua Li, Yao Wang, Qiang Guo, Junxi Chen, Kaihui Li, Danfang Li, Qinghua Tan, Jing Guo","doi":"10.1002/epi4.70305","DOIUrl":"10.1002/epi4.70305","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Epileptic spasms (ES) in children carry a high risk of neurodevelopmental delay, yet predictors of long-term surgical outcome remain incompletely defined. This study aimed to evaluate seizure outcomes following epilepsy surgery and to identify independent prognostic factors for postoperative recurrence.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This retrospective cohort study included 73 patients (47 males, 64%; median age at surgery: 37 months, IQR: 20–55.5) with drug-resistant ES who underwent resective or ablative surgery at Guangdong Sanjiu Brain Hospital in China between January 2015 and September 2024, with regular follow-up at least 12 months after epilepsy surgery. Independent predictors of recurrence were identified using multivariate Cox proportional hazards regression, and Kaplan–Meier analysis was performed to compare seizure-free survival stratified by seizure duration (SD) and residual lesion status.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Seizure-free rates were 75.3% at 1 year and 55.1% at last follow-up. Mean follow-up was 61.36 ± 26.10 months (range: 12–132). Among malformation of cortical development (MCD) subtypes, focal cortical dysplasia (FCD) type II demonstrated the highest 5-year seizure-free rate (100%), whereas mild MCD (m-MCD) showed the lowest (33.3%; <i>p</i> = 0.039). On multivariate Cox analysis, residual lesion on postoperative MRI was the strongest independent predictor of recurrence (HR = 5.13; 95% CI: 2.28–11.51; <i>p</i> < 0.001), followed by SD exceeding 36 months (HR = 2.49; 95% CI: 1.17–5.29; <i>p</i> = 0.018). Kaplan–Meier analysis confirmed a twofold difference in 5-year seizure-free survival between patients with duration ≤36 versus >36 months (73% vs. 36%; log-rank <i>p</i> = 0.00069), and significantly better seizure-free survival in patients without residual lesions (log-rank <i>p</i> < 0.0001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>Complete lesion resection and early surgical intervention (SD ≤36 months) are independently associated with favorable long-term seizure outcomes in children with drug-resistant ES. Pathological subtype, particularly FCD type II, further refines prognostic stratification. These findings support prompt surgical referral and underscore the importance of achieving complete lesion removal to optimize postoperative seizure control.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>Some children devel","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"11 5","pages":"1541-1555"},"PeriodicalIF":3.4,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13394768/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148419736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Evaluation of current practices and communication surrounding sudden unexpected death in epilepsy (SUDEP): A survey analysis of healthcare practitioners 评估当前的做法和沟通围绕癫痫猝死(SUDEP):一项调查分析医护人员。
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-19 Epub Date: 2026-09-02 DOI: 10.1002/epi4.70318
Katherine C. Nickels, Carly Katterman, Kelly Gwin, Carla Schad
{"title":"Evaluation of current practices and communication surrounding sudden unexpected death in epilepsy (SUDEP): A survey analysis of healthcare practitioners","authors":"Katherine C. Nickels, Carly Katterman, Kelly Gwin, Carla Schad","doi":"10.1002/epi4.70318","DOIUrl":"10.1002/epi4.70318","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To characterize healthcare providers' awareness and education regarding SUDEP and their approaches to SUDEP counseling.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A voluntary, observational 14-question survey was administered at the 2024 American Epilepsy Society Annual Meeting to healthcare providers who treat patients with epilepsy. The survey was designed to assess SUDEP awareness, clinical training, counseling patterns, and application of SUDEP guidelines.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 114 responses were analyzed. Most respondents were epileptologists or neurologists and completed residency or fellowship between 2010 and 2024. A substantial portion of respondents (41%) reported that SUDEP training was not provided during their residency or fellowship. Nearly all respondents were aware of SUDEP risk in epilepsy patients, and 61% reported losing a patient to SUDEP. Despite endorsement by two professional medical associations, 26% of respondents were unaware of the 2017 AAN/AES SUDEP Practice Guidelines. Although almost all respondents reported counseling patients and families about SUDEP risk, only 52% counseled all patients in accordance with the 2017 guidelines, typically at or after the second visit, if at all. Respondents most frequently selected uncontrolled seizures as the top risk factor for SUDEP, followed by >3 generalized tonic–clonic seizures (GTCS), reflecting a discrepancy with guideline recommendations identifying GTCS as the primary risk factor. However, respondents prioritized ‘targeting GTCS’ similarly to ‘seizure freedom’ as a mitigation strategy. Most respondents rated SUDEP counseling practices negatively (needs improvement or unsatisfactory), were divided on preferred education/training delivery, and reported not using available counseling resources (PAME, EF, CURE, etc.).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>The survey responses demonstrate modifiable gaps between SUDEP counseling recommendations and clinical practice. Improving residency/fellowship training, awareness of the 2017 AAN/AES SUDEP Practice Guidelines, and use of available counseling resources may help align care with established recommendations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>SUDEP, or sudden unexpected death in epilepsy, is when a person with epilepsy dies suddenly and without another clear cause. This survey of epilepsy care providers asked abou","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"11 5","pages":"1615-1623"},"PeriodicalIF":3.4,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13537074/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148879442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Sustained seizure reduction, treatment simplification, and high retention with cenobamate: A 12-month real-world study in refractory and ultra-refractory focal epilepsy 持续的癫痫发作减少,治疗简化和高保留:一项12个月的真实世界研究难治性和超难治性局灶性癫痫。
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-19 Epub Date: 2026-08-05 DOI: 10.1002/epi4.70299
Francesca Cutropia, Maria Teresa Di Claudio, Marta Robustella, Umberto Costantino, Carmela Pia Ferro, Giuseppe Miscio, Elena Conte, Nicola Amoroso, Orazio Nicolotti, Cosimo Damiano Altomare, Massimo Carella, Antonella Liantonio, Paola Imbrici, Giuseppe d'Orsi
{"title":"Sustained seizure reduction, treatment simplification, and high retention with cenobamate: A 12-month real-world study in refractory and ultra-refractory focal epilepsy","authors":"Francesca Cutropia,&nbsp;Maria Teresa Di Claudio,&nbsp;Marta Robustella,&nbsp;Umberto Costantino,&nbsp;Carmela Pia Ferro,&nbsp;Giuseppe Miscio,&nbsp;Elena Conte,&nbsp;Nicola Amoroso,&nbsp;Orazio Nicolotti,&nbsp;Cosimo Damiano Altomare,&nbsp;Massimo Carella,&nbsp;Antonella Liantonio,&nbsp;Paola Imbrici,&nbsp;Giuseppe d'Orsi","doi":"10.1002/epi4.70299","DOIUrl":"10.1002/epi4.70299","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To assess the 12-month clinical impact of cenobamate (CNB) in adults with drug-resistant focal epilepsy in clinical practice, exploring whether outcomes differed according to prior antiseizure medication (ASM) exposure.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This single-center, retrospective, observational, real-world study included 91 adults stratified by the number of prior ASMs: ≤ 6 prior ASMs (<i>n</i> = 44) and &gt; 6 prior ASMs (<i>n</i> = 47). Outcomes assessed at 3, 6, and 12 months included monthly seizure frequency, seizure freedom, retention rate, CNB dose, concomitant ASM burden, and adverse drug reactions (ADRs).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In the overall cohort, mean monthly seizure frequency decreased from 28.77 at baseline to 22.73 (3 months), 19.37 (6 months), and 14.58 (12 months), representing mean reductions of 21%, 33%, and 49%, respectively. Seizure freedom was achieved by 12% (11/91) of patients at 3 months, 13% (11/87) at 6 months, and 19% (16/82) at 12 months. Treatment retention rate was 100% at 3 months, 95.6% at 6 months, and 90.1% at 12 months. Both subgroups showed clinical benefit, but outcomes were more favorable in patients with ≤ 6 prior ASMs, who had a lower baseline seizure burden and higher 12-month seizure freedom than those with &gt; 6 prior ASMs (29% vs. 10%). At 12 months, most patients were receiving CNB doses of 200 mg or higher, and 79% were maintained on ≤ 2 concomitant ASMs. Overall, 38.5% (35/91) of patients reported at least one ADR (most frequently somnolence, vertigo, and asthenia).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>In this real-world cohort of adults with drug-resistant focal epilepsy, CNB was associated with sustained seizure reduction, high 12-month retention rate, and acceptable tolerability, while most patients were maintained on a low concomitant ASM burden during follow-up. Improvement was observed even in highly treatment-experienced patients, although outcomes were more favorable in those with lower prior ASM burden, supporting the hypothesis that earlier CNB positioning may provide greater efficacy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"11 5","pages":"1490-1501"},"PeriodicalIF":3.4,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13440508/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148677599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Reversal of refractory epilepsy in an adult with GAMT deficiency: A case report and comparative literature review. 成人GAMT缺乏的难治性癫痫的逆转:1例报告和比较文献回顾。
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-16 DOI: 10.1002/epi4.70370
Wei-Hung Sung, Hsi Chen, Che-Wei Hsu, Meng-Han Tsai
{"title":"Reversal of refractory epilepsy in an adult with GAMT deficiency: A case report and comparative literature review.","authors":"Wei-Hung Sung, Hsi Chen, Che-Wei Hsu, Meng-Han Tsai","doi":"10.1002/epi4.70370","DOIUrl":"10.1002/epi4.70370","url":null,"abstract":"<p><strong>Objective: </strong>Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive creatine biosynthesis disorder. Reports specifically focusing on adult patients remain scarce.</p><p><strong>Methods: </strong>We report a 52-year-old female (the oldest documented case of GAMT deficiency to date) presenting with severe intellectual disability, refractory epilepsy, and adult-onset disease progression. Whole-exome sequencing identified novel compound heterozygous GAMT variants (c.265_267del and c.253G>T), and magnetic resonance spectroscopy confirmed cerebral creatine depletion. Remarkably, initiating oral creatine supplementation at age 52 achieved complete seizure freedom, normalization of the electroencephalogram (EEG), and significant motor function recovery.</p><p><strong>Results: </strong>A comprehensive review revealed that untreated adult patients face a high risk of progressive neurological deterioration. Compared to the pediatric cohort, adults exhibited a significantly higher prevalence of movement disorders (69.2% vs. 33.1%, p < 0.001) and a trend toward a higher prevalence of epilepsy (92.3% vs. 74.2%). Especially, atonic seizures (drop attacks) are particularly characteristic of adult GAMT deficiency, with EEGs frequently demonstrating background slowing, multifocal epileptiform discharges, and electrodecremental patterns.</p><p><strong>Significance: </strong>This study underscores that continuous disease progression and prolonged neurotoxicity still could compromise the well-being of adult GAMT deficiency patients. Accurate diagnosis is essential for adults presenting with developmental and epileptic encephalopathy (DEE) phenotype, as even late treatment for GAMT deficiency can still dramatically alleviate the epileptic burden and reverse motor decline.</p><p><strong>Plain language summary: </strong>We report the oldest known adult diagnosed with GAMT deficiency. Our case demonstrates that starting creatine treatment even at age 52 can dramatically reduce seizures and restore motor function. Literature shows that untreated adults suffer from more severe epilepsy and movement disorders than children, with symptoms worsening over time. These findings highlight the critical need for genetic testing in adults with unexplained severe epilepsy; timely creatine supplementation can halt cognitive decline and significantly restore quality of life.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13674044/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149192286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
The basal ganglia and the epilepsies. 基底神经节和癫痫。
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-14 DOI: 10.1002/epi4.70361
Willian Lazarini-Lopes, Logan Perry, Patrick A Forcelli
{"title":"The basal ganglia and the epilepsies.","authors":"Willian Lazarini-Lopes, Logan Perry, Patrick A Forcelli","doi":"10.1002/epi4.70361","DOIUrl":"10.1002/epi4.70361","url":null,"abstract":"<p><p>The basal ganglia are an evolutionarily conserved neural circuit best known for the selection and sequencing of voluntary movement. Increasing evidence, however, indicates that these structures also play an important role in regulating pathological brain states, including seizures. Early pharmacological and lesion studies demonstrated that manipulation of basal ganglia output nuclei, particularly the substantia nigra pars reticulata, profoundly alters seizure susceptibility across multiple experimental models. Subsequent work expanded this view, revealing that several basal ganglia structures, including the striatum, subthalamic nucleus, globus pallidus, and superior colliculus, participate in a distributed network capable of modulating seizure initiation, propagation, and generalization. Modern systems neuroscience approaches have begun to define the specific cell types and projection-defined pathways through which these effects are mediated. Together, these findings support the concept that the basal ganglia function as a \"seizure-gating\" network that interacts with thalamocortical and brainstem arousal systems to regulate cortical synchronization. Understanding how these circuits influence seizure dynamics may enable new therapeutic strategies that strengthen endogenous seizure-suppressing networks rather than targeting the seizure focus alone. PLAIN LANGUAGE SUMMARY: The basal ganglia are a group of deep brain structures best known for helping to start and stop movements. Over the past 40 years, research has shown that they also act as a brake on seizures. Studies across species demonstrate that \"turning off\" one of the main output structures of the basal ganglia, the substantia nigra pars reticulata, can stop many types of seizures. This review presents the \"wiring diagram\" of this brain circuit, including the effects of \"turning on\" and \"turning off\" individual brain regions and their connections on seizure initiation, propagation, and termination.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13666567/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149180228","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care. 成年期遗传发育和癫痫性脑病:证据和护理方面的差距。
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-14 DOI: 10.1002/epi4.70359
Alex M Dudley, Peter Widdess-Walsh, Christine Linehan, Danielle M Andrade, Norman Delanty, Patrick B Moloney
{"title":"Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care.","authors":"Alex M Dudley, Peter Widdess-Walsh, Christine Linehan, Danielle M Andrade, Norman Delanty, Patrick B Moloney","doi":"10.1002/epi4.70359","DOIUrl":"10.1002/epi4.70359","url":null,"abstract":"<p><p>Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of the most severe epilepsies, characterized by seizure onset and neurodevelopmental delay in infancy or childhood, often with additional neurological and systemic comorbidities. Up to 50% of cases have an identifiable genetic cause, with structural etiologies representing a small minority. Although associated with early mortality, many individuals now live into adulthood. Over the past 15 years, advances in genetic diagnosis and understanding of disease mechanisms have created realistic prospects of precision therapies, including gene and RNA therapies. The adult phase of DEEs remains poorly characterized, with limited observational evidence. Adults with DEEs are underrepresented in the literature and often excluded from clinical trials, despite ongoing drug-resistant epilepsy, evolving neurodevelopmental disability, and an increasing burden of comorbidities with age. In this narrative review, we discuss important aspects of care for adults with genetic DEEs, including genetic testing, comorbidities and treatment. We also review available natural history studies, recent clinical trials, and consider how emerging disease-modifying therapies may reshape adult phenotypes and redefine priorities for lifelong care. PLAIN LANGUAGE SUMMARY: Developmental and epileptic encephalopathies (DEEs) are a group of rare diseases that are often caused by genetic changes. They usually begin in childhood with severe epilepsy but can also affect learning, development, and overall health throughout life. This review examines the healthcare needs of adults with DEEs, highlights areas where more research is needed, and explores how new treatments may improve health and quality of life across the lifespan.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13666571/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149180280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Exploring medical food supplementation as an adjunct strategy for microbiota restoration and seizure reduction in CDKL5 deficiency disorder. 探索医学食品补充作为CDKL5缺乏症中微生物群恢复和癫痫发作减少的辅助策略。
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-13 DOI: 10.1002/epi4.70369
Elisa Borghi, Matteo Domenico Marsiglia, Francesca Triva, Emerenziana Ottaviano, Ilaria Viganò, Miriam Nella Savini, Valentino Costabile, Aglaia Vignoli
{"title":"Exploring medical food supplementation as an adjunct strategy for microbiota restoration and seizure reduction in CDKL5 deficiency disorder.","authors":"Elisa Borghi, Matteo Domenico Marsiglia, Francesca Triva, Emerenziana Ottaviano, Ilaria Viganò, Miriam Nella Savini, Valentino Costabile, Aglaia Vignoli","doi":"10.1002/epi4.70369","DOIUrl":"https://doi.org/10.1002/epi4.70369","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objectives: &lt;/strong&gt;CDKL5 deficiency disorder (CDD) is a developmental and epileptic encephalopathy characterized by early-onset, treatment-resistant seizures and severe neurodevelopmental impairment. Increasing evidence suggests that alterations in the gut-brain axis may contribute to disease pathophysiology, raising interest in microbiota-targeted interventions. In this study, we evaluated the effects of a prebiotic-based nutritional intervention on clinical outcomes, gut microbiota composition, and fatty acid profiles in individuals with CDD.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Thirteen participants with drug-resistant epilepsy were enrolled (one male; median age, 12 years [IQR, 8.8-17.5]), and ten completed the longitudinal intervention protocol. The protocol comprised two medical-food interventions separated by washout periods: MF1 contained alpha-lactalbumin, inulin, and fructo-oligosaccharides, whereas MF2 contained the MF1 formulation supplemented with sodium butyrate. Clinical assessments, gut microbiota profiling, and fecal and systemic fatty acid measurements were performed at predefined study time points.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Seizure response varied substantially between participants. Two subjects showed a 52% and 57% reduction in monthly seizure frequency during MF1, whereas two different participants experienced reductions greater than 90% during MF2 (94% and 100%, respectively). At the cohort level, the lowest median seizure frequency was observed at the final study time point. A progressive decrease in CDD severity scale scores was also observed over the course of the study. Intervention phases coincided with transient enrichment of short-chain fatty acid (SCFA)-producing genera, including Faecalibacterium, Blautia, and Dorea. Microbiota composition differed between responders and non-responders: higher seizure burden was linked to increased Veillonella, whereas lower seizure frequency corresponded to enrichment of Dialister and Gemmiger. Fecal and systemic SCFA concentrations generally decreased during intervention phases, regardless of clinical response.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Significance: &lt;/strong&gt;Overall, these findings support a possible interaction between nutritional supplementation, microbial dynamics, and clinical manifestations in CDD. Larger studies will be necessary to clarify the therapeutic relevance of personalized microbiota-targeted approaches in CDD-related epilepsy.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Plain language summary: &lt;/strong&gt;CDKL5 deficiency disorder (CDD) is a rare condition that causes severe developmental difficulties and seizures that are difficult to control. We studied whether two medical food interventions targeting the gut microbiota, one of which also contained sodium butyrate, could influence seizures, disease severity, gut microbiota composition, and metabolite production in people with CDD. Some participants experienced substantial reductions in seizure frequency alongside changes in gut bacteria, alth","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13660742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149180313","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Preliminary evidence of long-term safety and effectiveness of anti-CGRP drugs for migraine prevention in people with comorbid epilepsy: A 52-week follow-up retrospective study. 抗cgrp药物预防合并癫痫患者偏头痛长期安全性和有效性的初步证据:52周随访回顾性研究
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-09 DOI: 10.1002/epi4.70364
Marina Romozzi, Andrea Burgalassi, Francesco Ceriello, Pietro Martino, Giuliano Sette, Francesca Pistoia, Fabio Placidi, Diego Centonze, Luca Pani, Jacopo Canonichesi, Catello Vollono, Paolo Calabresi, Maria Albanese, Luigi Francesco Iannone
{"title":"Preliminary evidence of long-term safety and effectiveness of anti-CGRP drugs for migraine prevention in people with comorbid epilepsy: A 52-week follow-up retrospective study.","authors":"Marina Romozzi, Andrea Burgalassi, Francesco Ceriello, Pietro Martino, Giuliano Sette, Francesca Pistoia, Fabio Placidi, Diego Centonze, Luca Pani, Jacopo Canonichesi, Catello Vollono, Paolo Calabresi, Maria Albanese, Luigi Francesco Iannone","doi":"10.1002/epi4.70364","DOIUrl":"10.1002/epi4.70364","url":null,"abstract":"<p><p>Migraine and epilepsy frequently coexist, but evidence on the safety of calcitonin gene-related peptide (CGRP)-targeting therapies in people with epilepsy is lacking. We evaluated long-term migraine and epilepsy outcomes in a real-world multicenter retrospective cohort of adults with comorbid migraine and epilepsy treated with anti-CGRP monoclonal antibodies or gepants while on stable antiseizure medications. Eleven patients were included in the final analysis, all female, with a mean age of 34.7 ± 12.2 years. At baseline, mean monthly headache days (MHDs) were 18.5 ± 7.8, with 54.5% episodic migraine and 45.5% chronic migraine; 72.7% of patients had drug-resistant epilepsy, and baseline mean monthly seizure frequency was 0.75. Mean MHDs decreased to 7.6 ± 5.5 at 24 weeks and to 5.4 ± 3.2 at 52 weeks (p < 0.001). At week 24, 90% of patients achieved a ≥50% reduction in MHDs, which was maintained at week 52; ≥75% response increased from 10% at week 24 to 20% at week 52, and 10% achieved migraine freedom at 1 year; MIDAS and HIT6 scores decreased significantly from baseline to both 24 and 52 weeks (all p < 0.001). Acute medication days and intake were reduced by over 85% at the end of the study. Seizure frequency did not increase during follow-up and showed a non-significant numerical reduction to 0.40 monthly seizures at 52 weeks (p = 0.423). No seizure exacerbations or treatment-related adverse events were observed. This study provides preliminary, long-term observations suggesting that anti-CGRP therapies may be effective for migraine prevention in patients with comorbid epilepsy. No adverse events or apparent worsening of seizure frequency were observed during the 52-week follow-up. These findings require confirmation in larger, prospective controlled studies. PLAIN LANGUAGE SUMMARY: Migraine and epilepsy often occur together, but information on CGRP-targeting migraine medicines in people with epilepsy is limited. We reviewed records from 11 women with both conditions over 1 year. Headache, migraine-related disability, and use of medicines for attacks decreased. Among 10 women with complete migraine follow-up, nine had at least half as many headache days at both 6 months and 1 year. No worsening of seizures or treatment-related side effects was reported. These findings are encouraging, but this small study without a comparison group cannot establish safety or prove treatment benefit.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13651948/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149147521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Neurometabolite abnormalities and associations with epilepsy duration and cognition in patients with idiopathic generalized epilepsies. 特发性全身性癫痫患者的神经代谢物异常及其与癫痫持续时间和认知的关系
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-08 DOI: 10.1002/epi4.70366
Yun Lien, Christina Bankston, Ayushe A Sharma, Brandon S Mitchell, Rodolphe Nenert, Anna Moyana, Jennifer Pilkington, Roy C Martin, Charity J Morgan, Lawrence Ver Hoef, Jerzy P Szaflarski, Jane B Allendorfer
{"title":"Neurometabolite abnormalities and associations with epilepsy duration and cognition in patients with idiopathic generalized epilepsies.","authors":"Yun Lien, Christina Bankston, Ayushe A Sharma, Brandon S Mitchell, Rodolphe Nenert, Anna Moyana, Jennifer Pilkington, Roy C Martin, Charity J Morgan, Lawrence Ver Hoef, Jerzy P Szaflarski, Jane B Allendorfer","doi":"10.1002/epi4.70366","DOIUrl":"10.1002/epi4.70366","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;This study investigated whether idiopathic generalized epilepsies (IGEs) are associated with neuroinflammation by measuring neurometabolite levels and brain temperature using whole-brain magnetic resonance spectroscopy imaging (MRSI). We compared patients with IGEs to healthy controls (HCs), and in IGEs examined relationships with seizure control, MRSI markers, epilepsy duration, and cognitive performance.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Seventeen patients with IGEs and 15 HCs underwent 3T-MRI scans. IGEs were also administered the Montreal Cognitive Assessment (MoCA) and Flanker test. Whole-brain &lt;sup&gt;1&lt;/sup&gt;H-MRSI provided metabolite and water maps. Levels for myo-inositol (MI; glial marker), glutamate-glutamine complex (Glx), and N-acetylaspartate (NAA) were normalized to creatine (Cr) levels. Brain temperature was obtained by frequency difference between water and Cr. IGEs were stratified into seizure-free (IGE-) and treatment-resistant (IGE+) groups. Group analyses were performed using permutation-based threshold-free cluster enhancement (TFCE) within bilateral regions of interest: anterior cingulate cortex (ACC), posterior cingulate cortex (PCC), hippocampus, parietal cortex, and thalami.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Compared with HCs, IGEs showed higher MI/Cr in the parietal cortex, PCC, and thalamus; higher hippocampus Glx/Cr; and lower parietal cortex NAA/Cr. Brain temperature did not differ between groups. IGE- exhibited higher hippocampal NAA/Cr and better MoCA scores than IGE+. Longer epilepsy duration was associated with lower NAA/Cr in the ACC and PCC, and parietal cortex, as well as lower Glx/Cr in the ACC, PCC, parietal cortex, and hippocampus. Lower NAA/Cr in the ACC, PCC, hippocampus, and thalamus, together with higher thalamus MI/Cr, was associated with lower MoCA scores in IGEs. Lower NAA/Cr in the ACC, thalamus, and hippocampus was associated with poorer Flanker performance in IGEs.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Significance: &lt;/strong&gt;We provide novel evidence of neurometabolic abnormalities in IGEs. The associations between metabolite levels and clinical and cognitive variables suggest potential biomarkers for disease progression and treatment response. Furthermore, these results highlight the roles of abnormal glial activation, neuronal loss, and hyperexcitability in IGE pathophysiology.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Plain language summary: &lt;/strong&gt;We compared patients with idiopathic generalized epilepsies (IGEs) to healthy controls (HCs) to investigate brain chemistry and temperature differences and their relationships to seizure control, epilepsy duration, and cognitive performance. We found group differences in brain N-acetylaspartate (NAA; neuronal marker), myo-inositol (MI; glial cell marker), and glutamate/glutamine (Glx; excitatory neurotransmission) levels, but not in brain temperature. Longer epilepsy duration was associated with brain chemistry levels. In IGEs, lower NAA levels and higher MI levels were associ","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13648258/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149135588","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Sudden unexpected death in epilepsy: An Italian expert consensus statement on risk, mechanisms, prevention, and therapeutic strategies. 癫痫猝死:意大利专家关于风险、机制、预防和治疗策略的共识声明。
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-07 DOI: 10.1002/epi4.70358
Vincenzo Belcastro, Fedele Dono, Giovanni Falcicchio, Lorenzo Gigli, Angela La Neve, Sara Matricardi, Barbara Mostacci, Angelo Pascarella, Leandro Pecchia, Emilio Russo, Pasquale Striano
{"title":"Sudden unexpected death in epilepsy: An Italian expert consensus statement on risk, mechanisms, prevention, and therapeutic strategies.","authors":"Vincenzo Belcastro, Fedele Dono, Giovanni Falcicchio, Lorenzo Gigli, Angela La Neve, Sara Matricardi, Barbara Mostacci, Angelo Pascarella, Leandro Pecchia, Emilio Russo, Pasquale Striano","doi":"10.1002/epi4.70358","DOIUrl":"10.1002/epi4.70358","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;Sudden unexpected death in epilepsy (SUDEP) is a leading cause of premature mortality in people with epilepsy, particularly in those with tonic-clonic seizures (TCSs), developmental and epileptic encephalopathies (DEEs), and drug-resistant epilepsy. Although awareness of SUDEP has increased, major uncertainties remain regarding individualized risk stratification, mechanistic interpretation, and implementation of preventive strategies in routine care. This Italian expert consensus statement was developed to formalize a shared multidisciplinary position on SUDEP risk profiles, pathophysiological mechanisms, and preventive and therapeutic strategies.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;The consensus was supported by a focused narrative appraisal of current evidence, rather than a systematic review, and developed through a structured multidisciplinary process based on a nominal group technique. The panel comprised 11 Italian experts: nine epileptologists from the Italian League Against Epilepsy (LICE) and its SUDEP Working Group, one cardiologist with expertise in epilepsy-related cardiac complications and SUDEP, and one biomedical engineer with expertise in seizure-detection devices and wearable technologies. Statements were generated across three macro-areas, discussed in working groups and plenary sessions, prioritized through an initial in-person vote, refined after discussion, and submitted to a second online round. Consensus was predefined as at least 75% agreement on a 5-point Likert scale.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;A final set of 33 statements was generated, of which 26 reached consensus; two of these (serotonergic modulation as a preventive strategy and fenfluramine's mechanisms beyond seizure control) reached the threshold only narrowly and are discussed as hypothesis-generating rather than as established clinical guidance. The resulting framework supports an extension of seizure-centered prevention toward an integrated, individualized, and mechanism-informed approach, in which reduction of convulsive seizure burden remains central while post-ictal respiratory, autonomic, cardiac, arousal, genetic, and treatment-related vulnerabilities are considered in selected high-risk patients.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Significance: &lt;/strong&gt;This consensus provides the first formalized Italian multidisciplinary position on SUDEP, offering an evidence-informed and mechanism-aware framework intended to support more consistent risk communication, individualized risk stratification, and preventive care in clinical practice.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Plain language summary: &lt;/strong&gt;Sudden unexpected death in epilepsy (SUDEP) is uncommon but is more likely in people with frequent tonic-clonic seizures and some severe epilepsy syndromes. An Italian multidisciplinary expert panel developed consensus statements on SUDEP risk, possible mechanisms, monitoring, and prevention. Reducing convulsive seizures and supporting treatment adherence remain the mai","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13643408/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149105835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
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