Seizure-European Journal of Epilepsy最新文献

{"title":"Pediatric refractory epilepsy related to tuberous sclerosis complex: A retrospective-cohort study of diagnosis and treatment","authors":"Rongbo Lin ,&nbsp;Zhao Liao ,&nbsp;Lingyu Kong ,&nbsp;Dian Jiang ,&nbsp;Cailei Zhao ,&nbsp;Xia Zhao ,&nbsp;Tian Yu ,&nbsp;Bixia Yuan ,&nbsp;Yuanzhen Ye ,&nbsp;Haifeng Wang ,&nbsp;Jianxiang Liao ,&nbsp;Jing Duan ,&nbsp;Zhanqi Hu","doi":"10.1016/j.seizure.2025.06.017","DOIUrl":"10.1016/j.seizure.2025.06.017","url":null,"abstract":"<div><h3>Background</h3><div>Tuberous sclerosis complex (TSC) patients often develop refractory epilepsy (RE). The present study evaluated numerous risk factors associated with TSC to determine risk factors of RE.</div></div><div><h3>Methods</h3><div>After enrollment, 315 pediatric patients with TSC-associated epilepsy were divided into control and RE groups. Multimodal data were used to characterize risk factors for RE, including clinical data, anti-seizure medication (ASM) or sirolimus use, family history, genotype, seizure types, neuroimaging and EEG findings, and developmental assessments.</div></div><div><h3>Results</h3><div>Infantile spasms, number of ASMs being taken, clustered seizures, family history, <em>TSC2</em> mutation, and presence of type II and Ⅲ lesions were positively correlated with RE. Age of onset, age of first hospital visit, and use of vigabatrin were negatively correlated with RE. MRI findings suggest lesion type is more important than lesion size and location in predicting RE. There were significant differences in spasms and delayed motor development or cognitive delay between the control and RE groups. Valproate was the most common ASM used, followed by vigabatrin and oxcarbazepine. Risk of RE was increased as much as 1.63-fold by the presence of type II lesions.</div></div><div><h3>Conclusions</h3><div>Age of onset, infantile spasms, type II lesions, <em>TSC2</em> mutation status, family history, and clustered seizures were identified as potential risk factors for the development of RE. ASM should be recommended for TSC patients even in cases with subclinical epileptiform EEG discharge. Using vigabatrin and sirolimus earlier in childhood may reduce the occurrence of RE.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 132-139"},"PeriodicalIF":2.7,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144365351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thalamic stereoelectroencephalography in pediatric patients: Clinical practice and considerations","authors":"Nunthasiri Wittayanakorn ,&nbsp;Nathan T. Cohen ,&nbsp;Ersida Buraniqi ,&nbsp;Veronica D. Linan-Martinez ,&nbsp;Saige A. Teti ,&nbsp;Ban H. Shoukeir ,&nbsp;William D. Gaillard ,&nbsp;Chima O. Oluigbo","doi":"10.1016/j.seizure.2025.06.012","DOIUrl":"10.1016/j.seizure.2025.06.012","url":null,"abstract":"<div><h3>Objective</h3><div>Neuromodulation of cortical and subcortical structures is integral to pediatric epilepsy surgery. Subcortical and thalamic targets for neuromodulation continue to evolve. This paper reports the practical considerations and outcomes of pediatric thalamic stereoelectroencephalography (sEEG) at a single institution.</div></div><div><h3>Methods</h3><div>A retrospective study involved 16 patients with drug-resistant epilepsy who underwent sEEG with thalamic nuclei sampling at Children’s National Hospital (CNH) from July 2023 to Aug 2024. Electrodes targeted thalamic nuclei, including the anterior nucleus of thalamus (ANT), centromedian (CM), and/or pulvinar (PUL). Two pediatric epileptologists reviewed sEEG recordings at enhanced sensitivity to identify thalamic spread patterns. The definitive procedure after sEEG and the outcomes were reported for those who proceeded to surgery with at least six months of follow-up.</div></div><div><h3>Results</h3><div>Sixteen subjects underwent sEEG with thalamic nuclei sampling. Thirty-five thalamic electrodes were implanted, and four patients had multisite thalamic nuclei sampling. Most seizures reviewed (84 %) had early thalamic involvement (&lt;500 ms from seizure onset). A variety of early thalamic spread patterns were detected: spike wave, 30 % (<em>n</em> = 15/50); rhythmic slowing, 20 % (<em>n</em> = 10/50); and low voltage fast activity (LVFA), 16 % (<em>n</em> = 8/50). Among the fifteen patients exhibiting thalamic involvement, nine (60 %) demonstrated congruent ictal patterns originating from the neocortex, whereas 40 % exhibited discordant patterns. Furthermore, 60 % of patients (<em>n</em> = 9) exhibited consistent thalamic spread patterns, whereas 40 % demonstrated variable patterns across different nuclei within the same seizure or within the same nucleus across seizures. Eleven patients underwent surgery after the sEEG, and seizure outcomes of seven patients with a mean follow-up period of 7.9 months were reported. Only one patient experienced transient hemiparesis from an anterior insular hemorrhage.</div></div><div><h3>Conclusion</h3><div>Thalamic sEEG may serve as a valuable tool for selected patients with complex or extensive epileptic networks and may aid in the identification of neuromodulation targets when resection or ablation is not feasible.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 121-131"},"PeriodicalIF":2.7,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144312741","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expansion of the Epilepsy Genotype-Phenotype Spectrum: Genetic and Clinical Characterization of 288 Children with Epilepsy in China","authors":"Linxue Meng ,&nbsp;Ziyao Han ,&nbsp;Xiaoyue Yang ,&nbsp;Hanyu Luo ,&nbsp;Siqi Hong ,&nbsp;Yue Hu ,&nbsp;Yi Guo ,&nbsp;Jiannan Ma ,&nbsp;Lingling Xie ,&nbsp;Li Jiang","doi":"10.1016/j.seizure.2025.06.011","DOIUrl":"10.1016/j.seizure.2025.06.011","url":null,"abstract":"<div><h3>Background</h3><div>In recent years, advancements in sequencing technology have led to a progressive increase in the proportion of epilepsy cases with genetic etiology, while simultaneously facilitating the ongoing identification of epilepsy-associated genes. To summarize the genotype-phenotype association of epilepsy patients is of great significance for the interpretation of genetic reports, clinical diagnosis and treatment and genetic counseling.</div></div><div><h3>Methods</h3><div>We reviewed and analyzed the trio-WES/WES results of 886 patients with unexplained epilepsy. Ultimately, 288 epilepsy patients were included in this study. The clinical phenotype, treatment and genotype of the patients were analyzed. The single nucleotide variations in all samples were explained.</div></div><div><h3>Results</h3><div>Of the original 886 patients with epilepsy with no identified cause, 288 patients were shown to have a genetic abnormality, yielding a WES diagnostic rate of 32.5%. The patients with onset before 2 years of age were more likely to have accompanying developmental delay (<em>p</em>=0.001). A total of 312 pathogenic/likely pathogenic variants involving 125 genes were detected. The most common genes affected were primarily <em>SCN1A</em>. After the pathogenic gene was identified, at least 16.7% more patients were able to use recommended medications. Patients with ion channel gene-related disorders had a significantly higher rate of receiving recommended medications. The <em>CHRNA4, ATP1A2, SPTAN1, KCNMA1</em>, and <em>SCN9A</em>, currently lack reports of incomplete penetrance related to epilepsy and our study suggests the potential for incomplete penetrance in these genes.</div></div><div><h3>Conclusion</h3><div>This study summarized the clinical characteristics and genetic background of children with epilepsy, expanded the genotype-phenotype spectrum, and provided reference for genetic counseling and clinical diagnosis and treatment.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 113-120"},"PeriodicalIF":2.7,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144307910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Respiratory modulation of heart rate variability after generalized convulsive seizures","authors":"Marie Anne Melone ,&nbsp;Rup K. Sainju ,&nbsp;Deidre N. Dragon ,&nbsp;Harold B. Winnike ,&nbsp;Laura Vilella ,&nbsp;Manuela Ochoa-Urrea ,&nbsp;Xiaojin Li ,&nbsp;Samden D. Lhatoo ,&nbsp;Linder H. Wendt ,&nbsp;Patrick Ten Eyck ,&nbsp;George B. Richerson ,&nbsp;Brian K. Gehlbach","doi":"10.1016/j.seizure.2025.06.007","DOIUrl":"10.1016/j.seizure.2025.06.007","url":null,"abstract":"<div><h3>Background</h3><div>Autonomic function is modulated by the respiratory network. We therefore hypothesized that in persons with epilepsy (PWE), generalized convulsive seizures (GCS) would induce greater heart rate variability (HRV) and parasympathetic activation in patients with low interictal central CO₂ chemosensitivity (measured with the hypercapnic ventilatory response, HCVR). We further hypothesized that postictal HRV would be associated with severity of postictal hypercapnia and hypoxemia.</div></div><div><h3>Methods</h3><div>We performed a retrospective analysis of PWE admitted to an epilepsy monitoring unit for video-EEG study and experienced GCS. Time synchronized video-EEG, ECG, respiratory effort, and airflow were continuously measured along with transcutaneous CO₂ and O₂ saturation. Interictal HCVR was measured using a modified hyperoxic rebreathing technique. Postictal respiration was analyzed and included the magnitude and duration of CO₂ rise and O₂ desaturation. HRV measures were derived from 5-minute artifact-free ECG recordings from interictal and postictal periods. Relationships between HRV and respiratory variables were analyzed using Spearman’s correlation and multivariate models.</div></div><div><h3>Results</h3><div>Twenty-six patients had both a GCS and an interictal HCVR. Mean age was 36.6 (±11.8) years and mean duration of epilepsy 16.2 (±12.0) years. Interictal HCVR slope varied from -0.13 to 5.2 (median 2.1) L/min/mm Hg and was not related to postictal RMSSD or the change in RMSSD (interictal wake – postictal) induced by GCS (<em>p</em> &gt; 0.11). In contrast, duration of postictal hypercapnia and oxygen desaturation were both significantly correlated with overall postictal HRV (SDNN) and with multiple HRV measures of parasympathetic tone (RMSSD, HF power, Cardiac Vagal Index). In multivariate analyses, duration of postictal oxygen desaturation was positively associated with increased postictal RMSSD (mean ratio 1.09, 95 % CI 1.04–1.14, <em>p</em> &lt; 0.01).</div></div><div><h3>Conclusions</h3><div>Postictal ventilation and oxygenation are tightly coupled to multiple measures of heart rate variability, consistent with respiratory modulation of the autonomic nervous system. Patients with more severe postictal respiratory depression exhibit greater parasympathetic activity after GCS even while the frequent occurrence of postictal tachycardia suggests a concomitant increase in sympathetic activity. These results have implications for the interpretation of postictal bradycardia and respiratory dysfunction and their relationships to sudden unexpected death in epilepsy.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 95-104"},"PeriodicalIF":2.7,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144298029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Seizure reporting in older patients with developmental and epileptic encephalopathies: A retrospective review of ambulatory video-EEG reports","authors":"Ewan S. Nurse ,&nbsp;Mark J. Cook ,&nbsp;Linda J. Dalic","doi":"10.1016/j.seizure.2025.06.003","DOIUrl":"10.1016/j.seizure.2025.06.003","url":null,"abstract":"<div><h3>Purpose</h3><div>Accurate seizure reporting is crucial for assessing treatment efficacy and guiding acute management in developmental and epileptic encephalopathies (DEEs). This study evaluates the sensitivity and positive predictive value (PPV) of seizure diaries compared to ambulatory video-EEG reports.</div></div><div><h3>Methods</h3><div>This retrospective cohort study (2018–2024) analyzed video-EEG reports from 19 Australian clinics. vEEG data were not re-reviewed. Patients with confirmed DEEs underwent 1–7 days of ambulatory video-EEG and completed seizure diaries. Sensitivity (proportion of true seizures correctly recorded) and PPV (proportion of diary events confirmed as seizures) were compared to neurologist-reported vEEG events. Demographic and clinical data were also collected.</div></div><div><h3>Results</h3><div>The study included 108 recordings from 65 patients with Lennox-Gastaut Syndrome (LGS), 10 with Dravet Syndrome, and 33 with other/unspecified DEEs. The cohort was 51 % female, with a median age of 15 years (range 5–63). In LGS and other DEEs, higher reporting of non-epileptic events correlated with fewer true seizure recordings. While many participants achieved a sensitivity or PPV of 1, few achieved both. No significant group-level differences in sensitivity or PPV were found across diagnostic categories.</div></div><div><h3>Conclusion</h3><div>Seizure diaries show variability in accurately capturing seizure activity in DEEs, with over-reporting of non-epileptic events and under-recognition of true seizures. These findings highlight the need for objective tools like video-EEG to improve seizure reporting accuracy.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 50-56"},"PeriodicalIF":2.7,"publicationDate":"2025-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144253387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Maternal exposure to lamotrigine and the risk of orofacial clefts in offspring: A systematic review and meta-analysis","authors":"Ze-lin Zhao ,&nbsp;Xiao-ming Jin ,&nbsp;Fang-ping Shi,&nbsp;Qiao-qun Dai,&nbsp;Yin Wu,&nbsp;Zhao-jie Zheng","doi":"10.1016/j.seizure.2025.06.005","DOIUrl":"10.1016/j.seizure.2025.06.005","url":null,"abstract":"<div><div>Lamotrigine is used to treat epilepsy, migraine, and psychiatric disorders during pregnancy. However, concerns remain regarding whether lamotrigine exposure increases the risk of orofacial clefts (OFCs) in offspring. A systematic literature search was conducted to identify relevant studies published from inception to February 2025. Random-effects models were used to estimate the overall relative risk. Eight observational studies were included in the analysis. The overall results indicated that maternal lamotrigine exposure during pregnancy was associated with a significantly increased risk of OFCs in offspring (odds ratio [OR] = 1.42, 95 % confidence interval [CI] = 1.05–1.92, <em>P</em> &lt; 0.001, I² = 39.8 %). However, this association disappeared when data were pooled from cohort studies (OR = 1.4, 95 % CI = 0.67–2.9, <em>P</em> = 0.37) or from studies adjusting for at least five variables (OR = 0.97, 95 % CI = 0.63–1.48, <em>P</em> = 0.871, I² = 0.0 %). Our findings suggest that <em>in utero</em> exposure to lamotrigine does not increase the risk of OFCs in offspring.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 67-72"},"PeriodicalIF":2.7,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144262176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Decreasing epilepsy-related mortality in the Maridi onchocerciasis focus, South Sudan","authors":"Joseph Nelson Siewe Fodjo ,&nbsp;Stephen Raimon Jada ,&nbsp;Olivia Kamoen ,&nbsp;Jacopo Mattia Rovarini ,&nbsp;Chiara Scanagatta ,&nbsp;Yak Yak Bol ,&nbsp;Luís-Jorge Amaral ,&nbsp;Robert Colebunders","doi":"10.1016/j.seizure.2025.06.004","DOIUrl":"10.1016/j.seizure.2025.06.004","url":null,"abstract":"<div><h3>Introduction</h3><div>A 2018 study found high epilepsy prevalence and mortality in the Maridi onchocerciasis focus (South Sudan). From 2019 onward, onchocerciasis elimination measures were strengthened in Maridi, and in 2020, an epilepsy clinic was established at Maridi County Hospital with free provision of anti-seizure medication. We investigated the changes in epilepsy-related mortality following these interventions.</div></div><div><h3>Methods</h3><div>Repeated house-to-house surveys (2018 and 2024) in three Maridi neighbourhoods (Kazana-1, Kazana-2, Hai-Gabat). The number of deaths that occurred during the two years preceding each survey among persons known to have epilepsy (PWE) was assessed in each home via verbal reports from the household head. Mortality rates were calculated and compared between surveys using the rate-ratio test.</div></div><div><h3>Results</h3><div>Between 2018 and 2024, epilepsy mortality in Maridi decreased 4.2-fold from 78.3 to 18.7 per 1000 person-years (<em>p</em> &lt; 0.001). The decrease in mortality was most evident among the 11–20 year-olds: 6.9-fold reduction from 66.9 to 9.7 per 1000 person-years (<em>p</em> = 0.001). Age-standardized mortality ratio of epilepsy was estimated at 1.8 in 2024. Among the 184 reported deaths during the 2022–2024 observation period, the proportion of deceased PWE reduced from 9.7 % (2022) to 4.5 % (2023) to 1.8 % (2024), although without statistical significance (<em>p</em> = 0.175).</div></div><div><h3>Conclusion</h3><div>Strengthening onchocerciasis elimination measures and establishing an epilepsy clinic were followed by a drastic decrease in PWE mortality rate in Maridi. By preventing new-onset onchocerciasis-associated epilepsy and treating PWE with free anti-seizure medication, this two-pronged approach could mitigate the high premature mortality observed among PWE, especially adolescents. This strategy may be applicable to other onchocerciasis hotspots with high epilepsy burden.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"130 ","pages":"Pages 106-114"},"PeriodicalIF":2.7,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144262007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diffusion MRI biomarkers for predicting treatment outcomes in infantile epileptic spasms syndrome with non-lesional MRI","authors":"Daniel Ackom ,&nbsp;Scott A. Beardsley ,&nbsp;Jennifer Meylor ,&nbsp;Kayleigh Butler ,&nbsp;Ricardo Vega ,&nbsp;Andrew J.D. Crow ,&nbsp;Hema Patel ,&nbsp;Brian D Schmit ,&nbsp;Pradeep Javarayee","doi":"10.1016/j.seizure.2025.06.001","DOIUrl":"10.1016/j.seizure.2025.06.001","url":null,"abstract":"<div><h3>Background</h3><div>Infantile epileptic spasms syndrome (IESS) is a devastating developmental epileptic encephalopathy (DEE) and patients exhibit diffuse white matter alterations and structural remodeling. However, the correlation between these structural changes and brain network properties, or their effect on the efficacy of treatment outcomes in MRI non-lesional IESS patients is not clear.</div></div><div><h3>Method</h3><div>This retrospective study was conducted on IESS patients using fixel-based analysis (FBA) of diffusion MRI and graph theory analysis of structural connectivity, involving 26 non-lesional IESS patients aged 2 to 12 months and 120 age-matched controls. We further examined the differences between antiseizure medication (ASM) responders and non-responders within the IESS cohort. FBA was performed across three age groups (2–5, 6–7, and 8–12 months) to evaluate white matter integrity at the micro- and macroscale using fiber density (FD), fiber cross-section (FC), and combined fiber density and cross-section (FDC). Graph theory analysis was used to assess global and local network properties.</div></div><div><h3>Results</h3><div>When compared to the control group, IESS patients exhibited significantly lower FD, FC, and FDC across major white matter tracts, including the corticospinal tract, corpus callosum, superior longitudinal fasciculus, optic radiations, and thalamic radiations (family-wise error-corrected, <em>p</em> &lt; 0.05). Graph theory analysis revealed significant alterations in brain network properties, particularly in the age group of 2–5 months, where IESS patients exhibited a significantly lower mean clustering coefficient (<em>p</em> &lt; 0.001, <em>d</em> = -0.74) and global efficiency (<em>p</em> = 0.001, <em>d</em> = -0.69. Small-world network analysis demonstrated a shift toward a more randomized network structure in IESS patients, particularly in the age group of 6–7 months (<em>p</em> = 0.001, <em>d</em> = -0.6182). In the secondary analysis, ASM treatment responders showed higher FD values in regions critical for seizure control, such as the hippocampus. Meanwhile, the ASM treatment non-responders exhibited increased FC in areas such as the pons and brainstem. Although subgroup differences did not achieve statistical significance, trends suggest that white matter integrity and network organization may influence treatment outcomes.</div></div><div><h3>Conclusion</h3><div>The results highlight widespread changes in white matter integrity and network connectivity in non-lesional IESS patients, with preliminary evidence suggesting a relationship between structural brain differences and treatment responsiveness. These findings underscore the potential of advanced neuroimaging analyses to guide personalized interventions in IESS.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 57-66"},"PeriodicalIF":2.7,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144262211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased seizure frequency graphs in medication trials: FDA labels vs. peer-review","authors":"Christopher Henry ,&nbsp;Miranda Creasey ,&nbsp;LaMont Cannon ,&nbsp;Samuel W Terman ,&nbsp;Daniel Goldenholz","doi":"10.1016/j.seizure.2025.05.021","DOIUrl":"10.1016/j.seizure.2025.05.021","url":null,"abstract":"<div><h3>Objective</h3><div>Anti-seizure medications (ASMs) typically reduce seizure frequency (SF) in some patients. However, even when the ASM is effective, some patients experience increased SF after initiation largely due to natural fluctuations. Graphical communication of those that experience an increase can vary between trial publications. We assessed the difference in graphical representation of the percentage of patients showing increased SF in ASMs trials between the U.S. Food and Drug Administration (FDA) approved prescribing labels and those in the peer-reviewed literature.</div></div><div><h3>Methods</h3><div>We searched peer-reviewed literature for the initial publication of randomized clinical efficacy trials referenced in the prescribing labels of FDA-approved ASMs for adjunctive treatment of epilepsy from (2000–2024). We then assessed whether a systematic difference existed in the choice to graphically display the percentage of patients with an increase in SF.</div></div><div><h3>Results</h3><div>There were 16 ASMs approved for adjunctive treatment between 2000–2024. There were 43 studies referenced for clinical efficacy in the 16 labels. Peer-reviewed journals included graphs SF increases in 23 % (95 % CI: 12 % to 39 %) compared to FDA-approved labels in 63 % (95 % CI: 35 % to 85 %). The absolute difference in the presence of the graphs was 39 % (95 % CI: 8 % to 65 %) (Chi-squared = 6.359, p-value = 0.012). When text and tables were included peer-review journals presented SF increases in 51 % of the trials (22 out of 43).</div></div><div><h3>Conclusion</h3><div>Compared to FDA-approved labels, the peer-reviewed publications of the last 16 FDA-approved ASMs under-informed clinicians about the percentage of patients with increased SF, which may impact informed shared decision-making.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 29-34"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144223048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel pathogenic variant causing POU3F3-related neurodevelopmental disorder in a child presenting with infantile epileptic spasms syndrome: Expanding the epileptic phenotype","authors":"Gaetano Terrone ,&nbsp;Emilia Cirillo ,&nbsp;Francesca Ripoli ,&nbsp;Selene Votta ,&nbsp;Maria Francesca Fiorile ,&nbsp;Salvatore Aiello ,&nbsp;Chiara Paolella ,&nbsp;Immacolata Andolfo ,&nbsp;Roberta Russo ,&nbsp;Carmela Bravaccio","doi":"10.1016/j.seizure.2025.05.020","DOIUrl":"10.1016/j.seizure.2025.05.020","url":null,"abstract":"<div><h3>Purpose</h3><div>Pathogenic variants in the <em>POU3F3</em> gene are responsible for an ultra-rare neurogenetic disorder, characterized by a combination of neuropsychiatric and systemic manifestations. Epilepsy is observed in approximately 15 % of affected individuals, ranging from focal non-motor sensitive seizures (gelastic and dacristic) to generalized motor and non-motor seizures including either tonic-clonic, tonic, myoclonic, atonic or atypical absences. To date, no cases of infantile epileptic spasms have been associated with this neurogenetic condition.</div></div><div><h3>Methods</h3><div>We report on a 20 months male patient presenting at 4 months of life with epileptic spasms, encephalopathic pattern on EEG, confirmed by BASED score, severe hypotonia, microcephaly, cerebral malformation and hyperkinetic movement disorder, consisting of stereotypies and dyskinesias. Epileptic spasms relapsed after ACTH cycle and responded to treatment with vigabatrin.</div></div><div><h3>Results</h3><div>Exome analysis revealed a novel missense <em>de novo</em> pathogenic variant (c.1071G&gt;<em>C</em>; p.Gln337His) in the <em>POU3F3</em> gene.</div></div><div><h3>Conclusions</h3><div>This case expands the epileptic phenotype of the <em>POU3F3</em>-related neurodevelopment disorder and contributes to the identification of a novel potential gene, involved in the genetic etiology of Infantile Epileptic Spasm Syndrome.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"131 ","pages":"Pages 22-25"},"PeriodicalIF":2.7,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144205763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}