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Stability of the Epileptogenic Index across seizures and the effects of sleep and withdrawal of anti-seizure medications. 癫痫发作期间致痫指数的稳定性以及睡眠和停药的影响。
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-23 DOI: 10.1002/epi4.70351
May Bar-On, Noam Ben-Eliezer, Noam Fallik, Lilac Goldstein, Guy Gurevitch, Ido Strauss, Inbal Maidan, Firas Fahoum
{"title":"Stability of the Epileptogenic Index across seizures and the effects of sleep and withdrawal of anti-seizure medications.","authors":"May Bar-On, Noam Ben-Eliezer, Noam Fallik, Lilac Goldstein, Guy Gurevitch, Ido Strauss, Inbal Maidan, Firas Fahoum","doi":"10.1002/epi4.70351","DOIUrl":"https://doi.org/10.1002/epi4.70351","url":null,"abstract":"<p><strong>Objective: </strong>Epileptogenic Index (EI) is a promising index to evaluate the epileptogenicity of the brain tissue and is useful in planning epilepsy surgery. We aimed to evaluate whether EI maps are consistent across seizures within patients and whether EI-derived measures are affected by the vigilance state and anti-seizure medication (ASM) dose.</p><p><strong>Methods: </strong>We analyzed 127 stereoelectroencephalography (SEEG) seizures from 19 patients. EI was calculated in all seizures. Within-patient EI consistency was assessed using pairwise Spearman correlations between seizure-specific EI maps. To assess the effects of vigilance and ASM on EI consistency, we calculated a contact-level p_weighted EI score that combines the frequency of suprathreshold EI involvement and mean EI magnitude, separately across vigilance states and in a subset of patients with different ASM states.</p><p><strong>Results: </strong>Mean seizure-to-seizure EI correlations ranged from 0.11 to 0.81, indicating substantial variability in within-patient EI consistency. Seven patients showed high consistency (≥0.6) and four showed low consistency (≤0.3). At the contact level, no differences in p_weighted EI were found between wakefulness and sleep. In contrast, p_weighted EI was significantly higher during reduced ASM compared with full ASM doses.</p><p><strong>Significance: </strong>EI maps are not uniformly stable across seizures. ASM reduction may broaden or intensify EI-defined epileptogenic involvement, suggesting that ASM status should be considered when interpreting EI during SEEG evaluation. These findings are hypothesis-generating and require prospective validation to determine their clinical utility for surgical planning.</p><p><strong>Plain language summary: </strong>The Epileptogenic Index (EI) measures the involvement of a recorded brain area during a specific seizure. This study shows that EI patterns can vary significantly between different seizures in the same patient. While sleep states do not change these patterns, reducing a patient's anti-seizure medications increases EI values, making seizures appear to spread more broadly. These medication-induced changes must be carefully considered to accurately map the epileptic network for surgical decisions.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13692757/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149264679","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
Utility of repeat stereotactic EEG in pediatric patients with tuberous sclerosis 重复立体定向脑电图在小儿结节性硬化症中的应用。
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-19 Epub Date: 2026-07-04 DOI: 10.1002/epi4.70293
Julie Uchitel, Olubunmi Fariyike, Samantha Steeman, Sarah Rockwood, Lily H. Kim, John Choi, Astrid C. Hengartner, Aiden H. Fel, Prathyusha Teeyagura, Gerald Grant, Vivek Buch, Kelly B. Mahaney, Laura M. Prolo, Ann Hyslop Segeren, H. Westley Phillips
{"title":"Utility of repeat stereotactic EEG in pediatric patients with tuberous sclerosis","authors":"Julie Uchitel,&nbsp;Olubunmi Fariyike,&nbsp;Samantha Steeman,&nbsp;Sarah Rockwood,&nbsp;Lily H. Kim,&nbsp;John Choi,&nbsp;Astrid C. Hengartner,&nbsp;Aiden H. Fel,&nbsp;Prathyusha Teeyagura,&nbsp;Gerald Grant,&nbsp;Vivek Buch,&nbsp;Kelly B. Mahaney,&nbsp;Laura M. Prolo,&nbsp;Ann Hyslop Segeren,&nbsp;H. Westley Phillips","doi":"10.1002/epi4.70293","DOIUrl":"10.1002/epi4.70293","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objective&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Tuberous sclerosis complex (TSC) is a rare genetic disorder associated with early-onset drug-resistant epilepsy (DRE) secondary to intracranial tubers. Many patients undergo stereo-EEG (sEEG) for seizure onset localization, sometimes requiring multiple sEEGs and subsequent epilepsy surgeries. Our objective was to evaluate the effects of single versus multiple sEEGs on seizure outcomes in pediatric patients with TSC-associated DRE.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Retrospective review of 45 pediatric TSC patients who underwent epilepsy surgery at our institution (2/2013–4/2026). Collected data included demographics, seizure history, number of sEEGs, surgical interventions, and outcomes. Primary outcomes were Engel scores after definitive epilepsy surgery.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Among 34 identified TSC patients who underwent sEEG prior to surgery, 19 had one sEEG, 15 had two or more (mean ± SE: 2.4 ± 0.2, range: 2–5). 68% of single sEEG patients had one presumed seizure focus on phase I vEEG versus only 27% of multiple sEEG patients (&lt;i&gt;p&lt;/i&gt; = 0.03). Phase I vEEG and MEG data were concordant in 67% of single sEEG patients and 91% of multiple sEEG patients. Single ictal focus epilepsy on vEEG was significantly associated with use of only single sEEG on logistic regression (&lt;i&gt;p&lt;/i&gt; = 0.01). Patients with a single sEEG more often underwent laser ablation (53% vs. 27%), while those with multiple sEEGs more commonly underwent resective surgery (73% vs. 47%, &lt;i&gt;p&lt;/i&gt; = 0.171). Four patients (20%) in the single sEEG group had additional treatment surgeries without repeat sEEG. At one-year and most recent (2.3 ± 0.4 vs. 2.8 ± 0.4 years) follow-up in patients who had at least 1 year of follow up after their most recent surgery (&lt;i&gt;n&lt;/i&gt; = 24, 82%), favorable seizure outcomes (Engel I/II) were observed in 86% and 93% in single sEEG patients, and 64% and 79% in multiple sEEG patients (&lt;i&gt;p&lt;/i&gt; &gt; 0.99).&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Significance&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;TSC-associated DRE is often multifocal and challenging to treat, requiring sEEG for localization. Presurgical multifocal vEEG or MEG findings may predict need for repeat sEEG. While multifocal networks may necessitate additional sEEG evaluations and subsequent surgeries, favorable seizure outcomes can be achieved.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Plain Language Summary&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Tuberous sclerosis complex (TSC) is a rare genetic condition ","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"11 5","pages":"1465-1477"},"PeriodicalIF":3.4,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13394953/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148381848","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
Psychiatric disorders and intellectual disability impact epilepsy care in adolescents: A nationwide registry study 精神障碍和智力残疾对青少年癫痫护理的影响:一项全国性的登记研究。
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-19 Epub Date: 2026-08-01 DOI: 10.1002/epi4.70314
Jesse Sobovitch, Colin Reilly, Johan Zelano, Rianne J. M. Goselink
{"title":"Psychiatric disorders and intellectual disability impact epilepsy care in adolescents: A nationwide registry study","authors":"Jesse Sobovitch,&nbsp;Colin Reilly,&nbsp;Johan Zelano,&nbsp;Rianne J. M. Goselink","doi":"10.1002/epi4.70314","DOIUrl":"10.1002/epi4.70314","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objective&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;To investigate the associations of intellectual disability (ID) and psychiatric comorbidities with healthcare utilization and mortality among adolescents with epilepsy.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Method&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;A nationwide, population-based observational study using the data from Swedish national patient registries was conducted. Individuals born during 1997–2001 with epilepsy were included and data on healthcare utilization, prescriptions, comorbidities, socioeconomic status and mortality were obtained during a 5-year period (16–20 years of age). We examined associations of psychiatric disorders and ID with healthcare utilization and mortality using unadjusted and covariate-adjusted models. A time-lagged sensitivity analysis was conducted to address potential reverse causation.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Of the 2116 participants included in the study, 33% had specialist care contact for ID and 43% had contact for psychiatric disorders. Psychiatric disorders were, after adjustment for covariates, associated with higher odds of both epilepsy-related and all-cause emergency care and inpatient care. Having ID was associated with lower odds of epilepsy-related and all-cause emergency care, but higher mortality. Furthermore, several psychiatric disorders were linked to higher odds of all-cause or epilepsy-related inpatient care or all-cause emergency care.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Significance&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Psychiatric comorbidities and ID are common in young people with epilepsy and were associated with higher healthcare utilization and mortality in the unadjusted analysis. When adjusting for covariates, psychiatric comorbidity was linked to increased care consumption, while having ID was linked to lower emergency care use but higher mortality. These findings indicate that comorbidities are clinically relevant in young persons with epilepsy and support the need for tailored, multidisciplinary follow-up during this important life period.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Plain Language Summary&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Many adolescents with epilepsy also have mental health or learning difficulties, which may affect their need for healthcare. In this Swedish nationwide study, psychiatric conditions were linked to more emergency visits and unplanned hospital admissions, while intellectual disability was associated with fewer emergency visits but a higher risk of death. These findings highlight the need for tailored, ","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"11 5","pages":"1603-1614"},"PeriodicalIF":3.4,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13428350/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148653208","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
Response to anti-seizure medications in children carrying novel or previously reported HCN1 gene variants 携带新型或先前报道的HCN1基因变异的儿童对抗癫痫药物的反应
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-19 Epub Date: 2026-07-29 DOI: 10.1002/epi4.70317
Marium N. Khan, Nicholas P. Poolos
{"title":"Response to anti-seizure medications in children carrying novel or previously reported HCN1 gene variants","authors":"Marium N. Khan,&nbsp;Nicholas P. Poolos","doi":"10.1002/epi4.70317","DOIUrl":"10.1002/epi4.70317","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Variants in the <i>HCN1</i> gene cause a syndrome of childhood epilepsy and developmental disability with a broad phenotypic range. Many affected children manifest with early infantile epileptic encephalopathy (EIEE) and highly drug-resistant epilepsy. There are anecdotal reports that seizures in this syndrome are exacerbated by some anti-seizure medications (ASMs), including lamotrigine and lacosamide. However, the efficacy of most ASMs in this disorder is unknown. We sought to understand which ASMs were most effective.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We compiled a registry of 10 children with <i>HCN1</i> variants and refractory epilepsy via outreach to parent members of an online social affinity group, and from unsolicited parent outreach to us. Parents filled out an eight-page survey detailing their child's and parents' genetic testing results, child's developmental status, and response to ASMs. Outside medical records were provided that documented genetic testing results.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Five of these variants had not been previously reported in the literature. Of these, there was phenotypic variability depending on where the variant mapped on the HCN1 ion channel structure, with variants mapping to an ion channel transmembrane domain causing more severe phenotypes. Subjects given lamotrigine or oxcarbazepine had exacerbated seizure frequency whereas those exposed to valproate or clobazam had improved seizure frequency, with two subjects becoming seizure-free.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>We report here five novel HCN1 variants. We also provide a novel survey of ASM efficacy. These trends in ASM efficacy are similar to what has been observed in Dravet syndrome, another EIEE, raising questions about potential common pathogenic mechanisms at a cellular level.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>We surveyed families whose children had been diagnosed with a rare epilepsy syndrome due to mutations in the <i>HCN1</i> gene. In reviewing their genetic testing results, we discovered five new gene mutations (variants) that had not been previously reported. We also asked which anti-seizure medications had been most effective: they cited valproate and clobazam as most effective, while lamotrigine and oxcarbazepine made seizures worse.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"11 5","pages":"1581-1589"},"PeriodicalIF":3.4,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13418493/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148619143","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
Transcriptional signatures of cortical morphometric variability in temporal lobe epilepsy 颞叶癫痫皮质形态变异的转录特征。
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-19 Epub Date: 2026-07-09 DOI: 10.1002/epi4.70306
Yaping Dong, Shuai Wang, Jingjie Luo, Juan Meng, Yuanmei Liu, Song Zhang
{"title":"Transcriptional signatures of cortical morphometric variability in temporal lobe epilepsy","authors":"Yaping Dong,&nbsp;Shuai Wang,&nbsp;Jingjie Luo,&nbsp;Juan Meng,&nbsp;Yuanmei Liu,&nbsp;Song Zhang","doi":"10.1002/epi4.70306","DOIUrl":"10.1002/epi4.70306","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Widespread cognitive deficits in temporal lobe epilepsy (TLE) are associated with macroscale brain structural changes. However, the correlation between the changes in the cortical morphological similarity of the TLE and gene expression remains unclear.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Structural magnetic resonance imaging (MRI) was collected from 31 TLE patients and 35 healthy controls to construct an individual-level Morphometric INverse Divergence (MIND) network. Changes in cortical morphological similarity attributable to TLE and their cognitive correlates were assessed. Using a public transcriptional dataset, we linked TLE-related structural changes to specific gene expression and biological pathways.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>TLE patients exhibited macroscopic morphological changes in the posterior cingulate cortex and dorsolateral prefrontal cortex, which were associated with cognitive impairments such as processing speed and working memory. Notably, TLE-related MIND changes were spatially correlated with the expression of epilepsy-associated genes, which were predominantly enriched in biological processes including cellular regulation and synaptic transmission.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>MIND reveals macroscopic morphometric abnormalities of TLE. The microscopic transcriptional patterns have facilitated the understanding of the molecular mechanisms underlying cortical susceptibility.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Plain Language Summary</h3>\u0000 \u0000 <p>TLE patients often have memory and thinking problems. This study used brain scans to show that TLE patients have structural changes in two brain regions, the posterior cingulate cortex and dorsolateral prefrontal cortex. These changes are linked to slower processing speed and poorer working memory. Importantly, the brain changes were spatially related to the activity of TLE susceptibility genes involved in cell regulation and signal transmission between neurons. This helps explain how microscopic gene patterns may contribute to large-scale brain changes and cognitive difficulties in TLE.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"11 5","pages":"1570-1580"},"PeriodicalIF":3.4,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13394103/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148410652","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
Expanding the electroclinical spectrum of TANC2-related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes 扩大tanc2相关疾病的电临床谱:lenox - gastaut综合征和相关的发育性癫痫表型
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-19 Epub Date: 2026-07-03 DOI: 10.1002/epi4.70303
Lorenzo Perilli, Carlotta Stipa, Gianmichele Villano, Laura Licchetta, Leo Strothmann, Robin Tobias Jauss, Gerhard Josef Kluger, Raffaella Minardi, NETRE consortium, Giuseppe Gobbi, Salvatore Grosso, Francesca Bisulli, Pasquale Striano
{"title":"Expanding the electroclinical spectrum of TANC2-related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes","authors":"Lorenzo Perilli,&nbsp;Carlotta Stipa,&nbsp;Gianmichele Villano,&nbsp;Laura Licchetta,&nbsp;Leo Strothmann,&nbsp;Robin Tobias Jauss,&nbsp;Gerhard Josef Kluger,&nbsp;Raffaella Minardi,&nbsp;NETRE consortium,&nbsp;Giuseppe Gobbi,&nbsp;Salvatore Grosso,&nbsp;Francesca Bisulli,&nbsp;Pasquale Striano","doi":"10.1002/epi4.70303","DOIUrl":"10.1002/epi4.70303","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objective&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, &lt;i&gt;TANC2&lt;/i&gt; has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or without seizures; however, its full clinical spectrum and contribution to specific epileptic encephalopathies remain incompletely defined.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;We describe the electroclinical and developmental features of three patients carrying truncating &lt;i&gt;TANC2&lt;/i&gt; variants identified through trio-exome sequencing within the European collaborative platform NETRE. Clinical, neuropsychological, and EEG data were collected and compared with prior reports.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Case #1 met Lennox–Gastaut syndrome (LGS) criteria, showing early drug resistance followed by partial cognitive recovery and sustained seizure control on felbamate monotherapy. Case #2 presented with ASD and multiple seizure types—including focal, atypical absence, and tonic—finally reaching prolonged remission and borderline intellectual functioning. Case #3 showed early-onset, drug-resistant polymorphic seizures with persistent bifrontal epileptiform discharges and severe developmental impairment, consistent with an LGS-like phenotype, with seizure freedom achieved under a limited polytherapy regimen.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Significance&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Our findings expand the electroclinical spectrum of &lt;i&gt;TANC2&lt;/i&gt;-related disorders, supporting a continuum ranging from NDD-associated epilepsy to DEE, including LGS in selected patients.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Plain Language Summary&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;&lt;i&gt;TANC2&lt;/i&gt; is a gene involved in brain development and synaptic function. Changes in this gene have been linked to neurodevelopmental disorders, autism, intellectual disability, and epilepsy. We describe three individuals with previously unreported truncating &lt;i&gt;TANC2&lt;/i&gt; variants and different epilepsy phenotypes, including one patient fulfilling criteria for Lennox–Gastaut syndrome (LGS) and another with LGS-like features. Although seizures were initially difficult to treat in some cases, seizure control was eventually achieved. These findings expand the known clinical spectrum of &lt;i&gt;TANC2&lt;/i&gt;-related disorders and suggest that selected patients may have a ","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"11 5","pages":"1513-1524"},"PeriodicalIF":3.4,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13394827/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148375097","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
Attitudes toward sodium valproate use, withdrawal, and counseling in people of reproductive potential: A scoping review 生殖潜力人群对丙戊酸钠使用、停药和咨询的态度:一项范围综述。
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-19 Epub Date: 2026-08-21 DOI: 10.1002/epi4.70342
Katherine Wang, Sarah Loveday, Monica S. Cooper, Emma Macdonald-Laurs
{"title":"Attitudes toward sodium valproate use, withdrawal, and counseling in people of reproductive potential: A scoping review","authors":"Katherine Wang,&nbsp;Sarah Loveday,&nbsp;Monica S. Cooper,&nbsp;Emma Macdonald-Laurs","doi":"10.1002/epi4.70342","DOIUrl":"10.1002/epi4.70342","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;p&gt;Regulatory restrictions and evolving clinical guidelines have aimed to reduce sodium valproate use in people of reproductive potential over the past decade due to its teratogenic risk. While clinical evidence and policy responses are well established, stakeholder perspectives remain less explored. This scoping review synthesizes the existing evidence on the attitudes of patients, caregivers and healthcare professionals regarding sodium valproate use, withdrawal and counseling in females of childbearing age. This scoping review, conducted according to JBI Methodology for a Scoping Review and registered on Open Science Framework (https://doi.org/10.17605/OSF.IO/HK7QN), analyzed studies which directly reported on, or measured, the attitudes of patients, caregivers and/or healthcare professionals regarding the use of sodium valproate for epilepsy in females. A structured search across four databases (EMBASE, Web of Science, MEDLINE, PsycINFO) and the gray literature was performed. A thematic synthesis of data was conducted to identify important themes and concepts. A total of 22 studies including 14 peer-reviewed articles and 8 gray literature sources met the inclusion criteria, including only 2 qualitative studies. Most literature focused on patient and caregiver perspectives (&lt;i&gt;n&lt;/i&gt; = 15), with fewer addressing healthcare professional views (&lt;i&gt;n&lt;/i&gt; = 7). Methodology incorporating interviews (&lt;i&gt;n&lt;/i&gt; = 2) or free-text survey responses (&lt;i&gt;n&lt;/i&gt; = 3) was uncommon. Across the studies, three key themes emerged: (i) patient disempowerment due to limited knowledge and suboptimal counseling and risk communication; (ii) the influence of maternal identity formation on attitudes, behaviors and decision-making when navigating sodium valproate use; and (iii) concerns regarding regulatory responses, such as pregnancy prevention programs, particularly around implementation challenges, perceived paternalism and lack of individualized care. Published evidence on stakeholder attitudes toward sodium valproate use in people of reproductive potential remains limited. The existing literature highlights gaps in awareness, counseling, and patient-centered delivery of pregnancy prevention programs. Future research should prioritize qualitative studies to better understand stakeholder attitudes and experiences to inform future guidelines and clinical practice.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Plain Language Summary&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Sodium valproate is an antiseizure medication that can harm an unborn baby when used during pregnancy. National and international programs have been introduced to reduce its use among people who could become pregnant. This review explored the perspectives of patients, caregivers and healthcare providers regarding sodium valproate use and withdrawal. Key themes inclu","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"11 5","pages":"1413-1425"},"PeriodicalIF":3.4,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13496280/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148789884","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 translational asymmetry of corpus callosotomy: Two literatures that answered different questions. 胼胝体切开术的平移不对称性:两篇回答不同问题的文献。
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-19 DOI: 10.1002/epi4.70372
Vitória Bernal Cavalcanti, Paulo Henrique Pires de Aguiar
{"title":"The translational asymmetry of corpus callosotomy: Two literatures that answered different questions.","authors":"Vitória Bernal Cavalcanti, Paulo Henrique Pires de Aguiar","doi":"10.1002/epi4.70372","DOIUrl":"10.1002/epi4.70372","url":null,"abstract":"<p><p>Corpus callosotomy is an established palliative operation for drug-resistant epilepsy dominated by drop attacks, and it is performed in three extents: anterior, usually of the anterior two-thirds; total, in one or two stages; and selective posterior, which preserves the genu and rostral body. Meta-analysis finds no difference between them in overall seizure reduction, a difference in drop attack control favoring the posterior approach, and a graded difference in disconnection syndrome, but there has never been a prospective head-to-head comparison, and the optimal extent of section remains undefined. A search of PubMed, Embase, and the Web of Science Core Collection identified 62 experimental studies in which the corpus callosum or another forebrain commissure was sectioned with an epilepsy-related outcome, spanning 1948-2026 across six species and every major seizure model. This literature is neither absent nor recent. What it has almost never done is vary the extent of section: the few studies that varied it took the laterality of kindling transfer or of interictal synchrony as the endpoint, never seizure control and never cognitive cost. No study compares the three extents against a common outcome; none models the selective posterior operation as it is defined clinically; none randomizes between extents; and none combines graded disconnection with time-locked bilateral electrophysiology, diffusion-based verification of the fibers divided, and a behavioral read-out in the same animals. The effect of section is also bidirectional: focal seizures may intensify through loss of transcallosal inhibition, and in the pentylenetetrazol model callosal section paradoxically facilitates convulsions, which limits chemoconvulsant preparations. The asymmetry between the clinical and experimental literatures is therefore one of method rather than of volume or attention: the two answered different questions, and the question the clinical field now asks requires a manipulation the experimental literature has never performed. PLAIN LANGUAGE SUMMARY: Surgeons can treat severe epilepsies by cutting the bundle of fibers that joins the two halves of the brain, but they do not agree on how much of it to cut. We searched three databases and found 62 animal studies of this operation going back to 1948. Almost none of them compared different amounts of cutting, and none looked at the newest version of the operation. Answering the surgeons' question will require a new kind of animal experiment rather than more reading of the old ones.</p>","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13680736/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149223557","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
Early neurocognitive outcomes following SEEG with radiofrequency thermocoagulation. 射频热凝SEEG术后的早期神经认知结果。
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-19 DOI: 10.1002/epi4.70368
Emily Cockle, Charles B Malpas, Honor Coleman, Alissandra McIlroy, Joshua Laing, Martin Hunn, Matthew Gutman, Stacey Logan, Georgia-Rose Robinson, Cecilia Harb, Catherine Meade, Wendyl D'Souza, Amy Halliday, Kristian Bulluss, Simon Vogrin, Rubina Alpitsis, Terence J O'Brien, Genevieve Rayner, Andrew Neal
{"title":"Early neurocognitive outcomes following SEEG with radiofrequency thermocoagulation.","authors":"Emily Cockle, Charles B Malpas, Honor Coleman, Alissandra McIlroy, Joshua Laing, Martin Hunn, Matthew Gutman, Stacey Logan, Georgia-Rose Robinson, Cecilia Harb, Catherine Meade, Wendyl D'Souza, Amy Halliday, Kristian Bulluss, Simon Vogrin, Rubina Alpitsis, Terence J O'Brien, Genevieve Rayner, Andrew Neal","doi":"10.1002/epi4.70368","DOIUrl":"10.1002/epi4.70368","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;Characterization of early neuropsychological outcomes following SEEG with radiofrequency thermocoagulation (RFTHC) is essential to guide patient expectations around return to work, study, and caregiving. The current study aimed to describe the early neurocognitive sequelae of SEEG.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Consecutive patients undergoing SEEG were prospectively recruited from two tertiary epilepsy centers in Melbourne, Australia. Patients were administered the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) via telehealth before and 3 weeks after SEEG (M = 19.69 days, SD = 4.41). Given the telehealth platform, the coding subtest was substituted for the Symbol Digit Modalities Test, and a modified score of global cognitive function was calculated. To evaluate group changes, paired sample t-tests were performed. Reliable change indices were computed to explore individual-level changes. Pearson's correlation coefficients evaluated relationships between change in global cognitive function and SEEG admission variables. SEEG patients were invited to complete a semi-structured interview canvassing the recovery following SEEG.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Twenty-eight patients completed the neuropsychological examination (M = 37.89 years, SD = 9.72, range = 17-56 years, 54% female). All patients underwent RFTHC with a mean of 11.43 (SD = 6.87, range = 2-28) coagulation sites. At a whole group level, 3-weeks post SEEG there was no evidence for global nor domain-specific cognitive change. Reliable change indices with 90% confidence revealed only 4% (1/28) declined on at least two measures and 10% (3/28) showed psychometric improvement. Pearson's correlational coefficients showed no evidence for association between change in global cognitive function with SEEG factors including admission length, number of spontaneous or stimulated seizures, number of electrodes, or number of RFTHC sites. Subjective reports of language change tended to be accompanied by a decline on the RBANS language index that did not meet reliable change criteria. Most patients reported returning to work around 4 weeks post SEEG.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Significance: &lt;/strong&gt;By 3 weeks, gross cognitive functioning tends to be in keeping with pre-SEEG performances for most patients. These findings have direct clinical implications for SEEG neuropsychological counseling.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Plain language statement: &lt;/strong&gt;SEEG is increasingly used to guide epilepsy surgery. Despite this, little is known about the cognitive recovery in the weeks following the procedure. We found that for most patients, broad cognitive functioning 3 weeks after SEEG with coagulation was consistent with function before SEEG, with only a small minority showing significant changes. Some people who reported language difficulties also showed a decline on language testing, although this was often small. Of those patients working before SEEG, most returned to w","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13680816/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149223612","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
Rest-activity patterns across development in two mouse models of autism and epilepsy 自闭症和癫痫两种小鼠模型的休息-活动模式。
IF 3.4 3区 医学
Epilepsia Open Pub Date : 2026-10-19 Epub Date: 2026-07-04 DOI: 10.1002/epi4.70250
Ipsa Dash, Filip Fredlund, Jenny Wickham, My Andersson, Christine T. Ekdahl
{"title":"Rest-activity patterns across development in two mouse models of autism and epilepsy","authors":"Ipsa Dash,&nbsp;Filip Fredlund,&nbsp;Jenny Wickham,&nbsp;My Andersson,&nbsp;Christine T. Ekdahl","doi":"10.1002/epi4.70250","DOIUrl":"10.1002/epi4.70250","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objective&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Sleep disturbances are common in individuals with autism spectrum disorder (ASD) and epilepsy and are increasingly recognized as comorbidities that affect disease severity and quality of life. This study investigated rest-activity patterns across development in two genetic mouse models relevant to ASD and epilepsy: synapsin 2 (Syn2) and contactin-associated protein-like 2 (Cntnap2) knockout (KO) mice, in which epileptic seizures typically emerge at 2–3 months and around 6 months of age, respectively.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Actigraphy, a noninvasive method for monitoring rest-locomotor activity patterns, was performed in male and female Syn2 KO (&lt;i&gt;n&lt;/i&gt; = 25), Cntnap2 KO (&lt;i&gt;n&lt;/i&gt; = 32), and wild type (&lt;i&gt;n&lt;/i&gt; = 31) mice at 1–2, 3–5, and 5–7 months of age. Recordings consisted of 72 h of continuous monitoring during a 12-h light/12-h dark cycle following a 12-h acclimatization period. Infrared sensors at two cage heights detected both subtle and prominent movements, allowing analysis of age-dependent rest–activity rhythms.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Across all genotypes and ages, mice showed higher activity during the dark phase, confirming the light phase as the preferred rest/sleep period. Adolescent (1–2 months) Syn2 KO mice exhibited normal rest–activity patterns, whereas adult (3–5 months) Syn2 KO mice displayed increased activity during the dark phase. In contrast, no robust age-dependent rest-activity alterations were detected in either adolescent or adult Cntnap2 KO mice after correction for multiple comparisons.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Significance&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Adult Syn2 KO mice exhibit hyperactivity during their preferred wake period, coinciding with the age range associated with seizure emergence in this model, whereas Cntnap2 KO mice do not exhibit robust developmental alterations in rest-activity behavior. These findings highlight genotype- and age-dependent differences in mouse models relevant to ASD and epilepsy.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Plain Language Summary&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Sleep problems are common in people with autism and epilepsy, but why they occur is still unclear. In this study, we examined rest-activity patterns in mice carrying two different genes linked to autism and epilepsy using a noninvasive method that tracks movement over time. We found that mice lacking the Syn2 gene developed hyperactivity in adulthood, during a life stage associated ","PeriodicalId":12038,"journal":{"name":"Epilepsia Open","volume":"11 5","pages":"1437-1449"},"PeriodicalIF":3.4,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13394751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148387462","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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