Epilepsy Research最新文献

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Seizures associated with dural arteriovenous fistulas: A systematic review of cases 癫痫发作与硬脑膜动静脉瘘:系统回顾的情况
IF 2 4区 医学
Epilepsy Research Pub Date : 2025-03-01 DOI: 10.1016/j.eplepsyres.2025.107531
Léa Proulx-Chartier , Ève Parenteau , Jimmy Li , Jean-Simon Dallaire , Cassandra C. Areal , Izumi Kuramochi , Charles Deacon , Ann-Marie Beaudoin
{"title":"Seizures associated with dural arteriovenous fistulas: A systematic review of cases","authors":"Léa Proulx-Chartier ,&nbsp;Ève Parenteau ,&nbsp;Jimmy Li ,&nbsp;Jean-Simon Dallaire ,&nbsp;Cassandra C. Areal ,&nbsp;Izumi Kuramochi ,&nbsp;Charles Deacon ,&nbsp;Ann-Marie Beaudoin","doi":"10.1016/j.eplepsyres.2025.107531","DOIUrl":"10.1016/j.eplepsyres.2025.107531","url":null,"abstract":"<div><h3>Objective</h3><div>Dural arteriovenous fistulas (DAVFs) are an unusual cause of seizures. In this systematic review, we aim to describe the clinical features, paraclinical findings, management, and prognosis of cases of DAVF-related seizures, raising awareness for a potentially treatable cause of epilepsy.</div></div><div><h3>Methods</h3><div>This review was registered on PROSPERO (CRD42024529316). We searched OVID MEDLINE, OVID Embase, Web of Science, and Google Scholar for case reports/series of patients presenting with seizures associated with DAVFs. Original studies describing at least two out of four outcome categories (clinical features, paraclinical findings, treatment, and prognosis) were included. The methodological quality of each study was evaluated using a standardized tool. We performed descriptive analyses to summarize the clinical characteristics of all cases. We repeated these analyses while excluding cases where seizures may have had a likelier cause than DAVFs.</div></div><div><h3>Results</h3><div>In total, 120 patients were included from 94 articles. Median age was 57 years, and most patients were male (70 %). The most common manifestations accompanying seizures were headaches (22 %). Status epilepticus occurred in 38 % of cases. DAVFs were most commonly in the left hemisphere. The main venous sinus involved was the transverse sinus. Cortical venous reflux was present in almost all cases (93 %); most DAVFs were considered aggressive according to Cognard and Borden classifications. Seizure freedom was most common following angiographic interventions.</div></div><div><h3>Conclusion</h3><div>DAVFs, even when uncomplicated, can be a potential cause of treatable seizures. More aggressive DAVFs with cortical venous reflux seem to be the main culprit. Angiographic interventions can help achieve seizure freedom.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"211 ","pages":"Article 107531"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143519545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Personal impact of epilepsy and well-being in individuals with epilepsy 癫痫对癫痫患者的个人影响和福祉
IF 2 4区 医学
Epilepsy Research Pub Date : 2025-02-28 DOI: 10.1016/j.eplepsyres.2025.107536
Ozlem Ozdemir , Fatih Tuglu
{"title":"Personal impact of epilepsy and well-being in individuals with epilepsy","authors":"Ozlem Ozdemir ,&nbsp;Fatih Tuglu","doi":"10.1016/j.eplepsyres.2025.107536","DOIUrl":"10.1016/j.eplepsyres.2025.107536","url":null,"abstract":"<div><h3>Aim</h3><div>The aim was to examine the personal impact of epilepsy on well-being, and influencing factors in individuals with epilepsy.</div></div><div><h3>Method</h3><div>This cross-sectional descriptive study was conducted on 138 individuals with epilepsy. Data were collected using the \"Descriptive Information Form,\" the \"Personal Impact of Epilepsy Scale (PIES),\" and the “World Health Organization-Five Well-Being Index (WHO-5)”. In the statistical analysis, p &lt; 0.05 was considered significant.</div></div><div><h3>Results</h3><div>The mean age of individuals with epilepsy was 31.22 ± 13.12 years, and the mean duration of epilepsy diagnosis was 9.93 ± 6.84 years. The mean WHO-5 Well-Being Index score was 62.55 ± 26.26 and the mean PIES scale score was 34.27 ± 20.27. According to the regression analysis results, well-being (β = −0.568; p = 0.000) and the duration of epilepsy diagnosis (β = −0.130; p = 0.041) were negative predictors, while the number of seizures (β = 0.209; p = 0.001) and age (β = 0.180; p = 0.010) were positive predictors of PIES. This explained 52.8 % of the total PIES score.</div></div><div><h3>Conclusion</h3><div>The well-being of individuals with epilepsy was found to be above average, and the personal impact of epilepsy was found to be low. Low well-being of individuals with epilepsy increased the negative impact of epilepsy on the individual. Number of seizures, older age, and the shortness of the diagnosis period negatively affected the individual with epilepsy personally. Health professionals need to focus on the influencing factors of individuals with epilepsy to increase their well-being and reduce the negative effects of epilepsy.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"212 ","pages":"Article 107536"},"PeriodicalIF":2.0,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143681637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Psychogenic non-epileptic seizures and epilepsy: How are they affected by associated psychiatric disorders? 心因性非癫痫性发作和癫痫:它们如何受到相关精神疾病的影响?
IF 2 4区 医学
Epilepsy Research Pub Date : 2025-02-20 DOI: 10.1016/j.eplepsyres.2025.107534
Prateek Kumar Panda, Indar Kumar Sharawat
{"title":"Psychogenic non-epileptic seizures and epilepsy: How are they affected by associated psychiatric disorders?","authors":"Prateek Kumar Panda,&nbsp;Indar Kumar Sharawat","doi":"10.1016/j.eplepsyres.2025.107534","DOIUrl":"10.1016/j.eplepsyres.2025.107534","url":null,"abstract":"","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"211 ","pages":"Article 107534"},"PeriodicalIF":2.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143464760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of valproate therapy on timing of puberty in adolescents with childhood-onset epilepsy 丙戊酸治疗对儿童期癫痫青少年青春期时间的影响
IF 2 4区 医学
Epilepsy Research Pub Date : 2025-02-20 DOI: 10.1016/j.eplepsyres.2025.107533
Nirmeen A. Kishk , Amr Mohamed Fouad , Shereen El-Sawy , Nourhan A. Soliman , Rehab Magdy
{"title":"Impact of valproate therapy on timing of puberty in adolescents with childhood-onset epilepsy","authors":"Nirmeen A. Kishk ,&nbsp;Amr Mohamed Fouad ,&nbsp;Shereen El-Sawy ,&nbsp;Nourhan A. Soliman ,&nbsp;Rehab Magdy","doi":"10.1016/j.eplepsyres.2025.107533","DOIUrl":"10.1016/j.eplepsyres.2025.107533","url":null,"abstract":"<div><h3>Background</h3><div>Data regarding the timing of puberty in adolescents with childhood-onset epilepsy is scarce. This study aimed to explore whether pre-pubertal valproate intake negatively affects the timing of puberty.</div></div><div><h3>Methods</h3><div>In this cross-sectional study, adolescents with childhood-onset epilepsy were asked to report when they attained Tanner 2 thelarche and gonadarche, respectively, using a Tanner self-staging score. Girls aged 13–18 years and boys aged 14–18 years -the ages at which the definition of delayed puberty can be applied- were included. Data regarding the pre-pubertal period were recorded, including seizure frequency/month, longest seizure-free interval, valproate intake, and duration.</div></div><div><h3>Results</h3><div>Eighty-one PWE (48 boys and 33 girls) were included. Forty-nine patients received valproate during the pre-pubertal period. Only 18 patients (22.2 %) had delayed onset puberty (4 girls and 14 boys). Delayed menarche was identified in 7 girls. Patients with delayed onset puberty had significantly younger age at epilepsy onset and shorter pre-pubertal longest seizure-free interval than patients with normal onset (P = 0.01, for each). Furthermore, the percentage of patients who received pre-pubertal valproate was significantly higher in patients with delayed puberty (94.4 %) than in patients with normal onset puberty (50.7 %), with significantly longer treatment duration in the former group (P = 0.0006). Duration of pre-pubertal valproate intake was an independent predictor for delayed onset puberty (OR=1.36, 95 %CI =1.14–1.62) while female sex had a protective effect (OR=0.21, 95 %CI =0.04–0.92).</div></div><div><h3>Conclusion</h3><div>Pre-pubertal valproate intake might delay pubertal onset in both sexes with epilepsy. Serial assessment to track pubertal development across the adolescence period is highly needed.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"211 ","pages":"Article 107533"},"PeriodicalIF":2.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143453551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characterization of the phenotype and functional alternations of three HCN1 variants in Chinese epilepsy patients 中国癫痫患者三种HCN1变异的表型和功能变化特征
IF 2 4区 医学
Epilepsy Research Pub Date : 2025-02-07 DOI: 10.1016/j.eplepsyres.2025.107521
Ziyao Han, Lingling Xie, Xiaorui Liu, Jiaxin Yang, Hanyu Luo, Ran Ding, Hengsheng Chen, Li Cheng, Zhixu Fang, Li Jiang
{"title":"Characterization of the phenotype and functional alternations of three HCN1 variants in Chinese epilepsy patients","authors":"Ziyao Han,&nbsp;Lingling Xie,&nbsp;Xiaorui Liu,&nbsp;Jiaxin Yang,&nbsp;Hanyu Luo,&nbsp;Ran Ding,&nbsp;Hengsheng Chen,&nbsp;Li Cheng,&nbsp;Zhixu Fang,&nbsp;Li Jiang","doi":"10.1016/j.eplepsyres.2025.107521","DOIUrl":"10.1016/j.eplepsyres.2025.107521","url":null,"abstract":"<div><h3>Purpose</h3><div>To evaluate the electrophysiological properties of three <em>HCN1</em> variant sites found in Chinese epileptic patients and to explore the potential relationship between genotype and phenotype.</div></div><div><h3>Methods</h3><div>We correlated clinical severity of three patients with <em>HCN1</em> variants with whole-cell patch-clamp measurements of channel activity, channel expression detected by Western blot, and bioinformatics prediction of the damaging effects of each variant.</div></div><div><h3>Results</h3><div>Three patients with the variants p.L400P, p.D534H and p.M243delinsTL, showed different phenotypes, ranging from mild epilepsy to severe epileptic encephalopathy. Variants L400P and D534H were classified as pathogenic by all bioinformatics tools, and variant M243delinsTL was classified as a polymorphism by MutationTaster. The L400P and D534H variants showed significantly reduced current compared with that of the wild-type (WT), while the current density of M243delinsTL was similar to WT. The half-activation voltage (V<sub>1/2</sub>) of M243delinsTL variant was shifted in the hyperpolarizing direction when compared to the WT, and the slope factor (k) of activation of the M243delinsTL variant was significantly lower than that of the WT. The L400P variant was associated with a significantly higher activation time constant compared with that of the WT. In addition, quantitative detection of the FLAG-tagged <em>HCN1</em> channel revealed that the expression level of the L400P variant was significantly decreased compared to WT.</div></div><div><h3>Conclusions</h3><div>Elucidation of the type and location of variant sites combined with the use of bioinformatics tools and patch-clamp techniques can improve our understanding of the clinical phenotype of epilepsy associated with <em>HCN1</em> variants.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"211 ","pages":"Article 107521"},"PeriodicalIF":2.0,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143396115","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Long-term outcome and predictors of vagus nerve stimulation for drug-resistant epilepsy: Real-world evidence from the Korean national hospital consortium 迷走神经刺激治疗耐药癫痫的长期预后和预测因素:来自韩国国家医院联盟的真实世界证据。
IF 2 4区 医学
Epilepsy Research Pub Date : 2025-02-01 DOI: 10.1016/j.eplepsyres.2025.107511
Seo-Young Lee , Hyesung Lee , Jae-Wook Cho , Kyung Wook Kang , Jong-Geun Seo , Jon Soo Kim , Joon-Won Kang , Daeyoung Kim , Young-Soo Kim , Sun Ah Choi , Jeonghoon Park , Ji Hoon Phi , Sang Ook Nam , Won Seop Kim , Jae-Moon Kim , Ki Joong Kim , Korean National Hospital Consortium for VNS Outcome Study
{"title":"Long-term outcome and predictors of vagus nerve stimulation for drug-resistant epilepsy: Real-world evidence from the Korean national hospital consortium","authors":"Seo-Young Lee ,&nbsp;Hyesung Lee ,&nbsp;Jae-Wook Cho ,&nbsp;Kyung Wook Kang ,&nbsp;Jong-Geun Seo ,&nbsp;Jon Soo Kim ,&nbsp;Joon-Won Kang ,&nbsp;Daeyoung Kim ,&nbsp;Young-Soo Kim ,&nbsp;Sun Ah Choi ,&nbsp;Jeonghoon Park ,&nbsp;Ji Hoon Phi ,&nbsp;Sang Ook Nam ,&nbsp;Won Seop Kim ,&nbsp;Jae-Moon Kim ,&nbsp;Ki Joong Kim ,&nbsp;Korean National Hospital Consortium for VNS Outcome Study","doi":"10.1016/j.eplepsyres.2025.107511","DOIUrl":"10.1016/j.eplepsyres.2025.107511","url":null,"abstract":"<div><h3>Objective</h3><div>This study aimed to assess the long-term outcome and prognostic factors of vagus nerve stimulation (VNS) for drug-resistant epilepsy (DRE) using real-world data.</div></div><div><h3>Method</h3><div>We included 189 DRE patients who underwent VNS implantation between 2005 and 2018 at nine national hospitals in Korea. Seizure-frequency data obtained quarterly one year before and after surgery and annually up to four years after surgery were collected from medical records. Health resource utilization trends over the four years preceding and following surgery were assessed through linkage with national health insurance data. We performed interrupted time series analysis to examine the trend in seizure frequency before and after one year following surgery.</div></div><div><h3>Results</h3><div>The seizure frequency exhibited a decreasing trend in 27.5 % and an increasing trend in 3.8 % during the first year following VNS implantation without a significant change in efficacy over the subsequent three years. Patients with focal spikes with secondary bilateral synchrony (SBS) in electroencephalography had a higher responder rate (adjusted odds ratio (aOR)= 3.06 [1.36–6.90]), whereas those with Lennox-Gastaut syndrome had a lower responder rate (aOR=0.38 [0.15–0.94]). One-year seizure-freedom was achieved in 6.0 % of patients at some point during the four-year follow-up. Over an eight-year period, the number of antiseizure medications (ASMs) tended to increase before surgery and remained at a median of 5 [4−6] after surgery. While the total medical and epilepsy-related costs tended to decrease after surgery, the ASM cost continued to increase.</div></div><div><h3>Conclusion</h3><div>VNS was substantially beneficial for one in four patients with DRE, offering the chance of seizure-freedom. However, the efficacy of VNS fell within the efficacy range of recently introduced medical treatments and did not lead to a decrease in the ASM burden. Focal spike with SBS is a potential biomarker for a favorable response to VNS.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"210 ","pages":"Article 107511"},"PeriodicalIF":2.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143028344","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The significance of interictal electroencephalogram analysis based on the grand total electroencephalogram score in early assessment of cognitive impairment in epilepsy patients 基于总脑电图评分的间期脑电图分析在早期评估癫痫患者认知功能障碍中的意义。
IF 2 4区 医学
Epilepsy Research Pub Date : 2025-02-01 DOI: 10.1016/j.eplepsyres.2025.107506
Honghua Chen, Lingli Ju, Yanyan Ji, Lihong Tao
{"title":"The significance of interictal electroencephalogram analysis based on the grand total electroencephalogram score in early assessment of cognitive impairment in epilepsy patients","authors":"Honghua Chen,&nbsp;Lingli Ju,&nbsp;Yanyan Ji,&nbsp;Lihong Tao","doi":"10.1016/j.eplepsyres.2025.107506","DOIUrl":"10.1016/j.eplepsyres.2025.107506","url":null,"abstract":"<div><h3>Purpose</h3><div>Epilepsy is a widespread neurological disorder that increases the risk of cognitive impairment (CI) or dementia. We aimed to assess the relationship between cognition and interictal electroencephalogram (EEG) in epilepsy patients, using the Grand Total EEG (GTE) score. Additionally, we investigated the GTE score's utility in the early detection of CI in these patients.</div></div><div><h3>Methods</h3><div>Data from 93 patients diagnosed with unexplained epilepsy at the Affiliated Hospital of Yangzhou University were analyzed. EEG recordings and cognitive evaluations were performed. Patients were categorized into three groups based on their Montreal Cognitive Assessment (MoCA) scores: normal cognitive (NC) group, mild cognitive impairment (MCI) group, and dementia group. The study included analysis of correlations between cognitive test results and clinical characteristics. Additionally, the influence of GTE scores and subscores on cognition was examined. Statistical analyses included one-way analysis of variance (ANOVA), Kruskal-Wallis H-test, Mann-Whitney U-test, Chi-square test, Spearman rank correlation analysis, and multiple linear regression.</div></div><div><h3>Results</h3><div>(1) There was a significant negative correlation between cognitive test scores and GTE scores. Strong negative correlations were found between cognition (MoCA) and the GTE score (ρ = −0.754, P &lt; 0.001), as well as for the subscores \"Diffuse Slow Activity\" (ρ = −0.712, P &lt; 0.001), \"Frequency of Rhythmic Background Activity\" (ρ = −0.490, P &lt; 0.001), and \"Paroxysmal Activity\" (ρ = −0.565, P &lt; 0.001). (2) Multiple linear regression analysis identified the GTE score, \"Diffuse Slow Activity\", \"Paroxysmal Activity\", age, and education as significant predictors of cognitive decline. (3) At a threshold of 4.5, the GTE score effectively differentiated between individuals with and without CI, demonstrating a sensitivity of 73.8 % and a specificity of 93.7 %.</div></div><div><h3>Conclusion</h3><div>The GTE score provides clinically valuable information for the early detection of CI in patients with epilepsy. As CI worsens in epilepsy patients, the GTE score, Diffuse Slow Activity, Frequency of Rhythmic Background Activity, and Paroxysmal Activity increase. Healthcare providers should focus on managing not only seizures but also interictal EEG abnormalities to prevent or mitigate the risk of CI.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"210 ","pages":"Article 107506"},"PeriodicalIF":2.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143022648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Novel insights regarding haemodynamics in focal seizures 关于局灶性癫痫的血流动力学的新见解
IF 2 4区 医学
Epilepsy Research Pub Date : 2025-02-01 DOI: 10.1016/j.eplepsyres.2025.107513
Boriana S. Gagaouzova , Ineke A. van Rossum , Jorien van Hoey Smith , Frederik J. de Lange , Roland D. Thijs , J. Gert van Dijk
{"title":"Novel insights regarding haemodynamics in focal seizures","authors":"Boriana S. Gagaouzova ,&nbsp;Ineke A. van Rossum ,&nbsp;Jorien van Hoey Smith ,&nbsp;Frederik J. de Lange ,&nbsp;Roland D. Thijs ,&nbsp;J. Gert van Dijk","doi":"10.1016/j.eplepsyres.2025.107513","DOIUrl":"10.1016/j.eplepsyres.2025.107513","url":null,"abstract":"<div><h3>Introduction</h3><div>We explored the temporal patterns of haemodynamic parameters in four seizures of three patients using the log-ratio method.</div></div><div><h3>Methods</h3><div>We identified three subjects who experienced a seizure during a tilt table test: one had two focal impaired awareness seizures (FIAS, seizures#1 and#2), one had one FIAS (#3), and one had a focal to bilateral tonic-clonic seizure (fbTCS, seizure#4). Recordings included video, heart rate (HR) and continuous blood pressure (BP). We used the log-ratio method to determine the relative contributions of HR, stroke volume (SV), and total peripheral resistance (TPR) to mean arterial pressure (MAP). A 'phase' was defined as a temporary departure of MAP, HR, SV or TPR from baseline.</div></div><div><h3>Results</h3><div>BP showed a decrease in all four seizures. We observed one phase with synchronous events for all haemodynamic variables during seizures 1&amp;2; seizure#3 showed one phase for MAP and TPR, three phases for HR, and only one for SV. Seizure#4 showed no autonomic involvement during the first minute of the focal seizure, after which MAP and HR showed an asynchronous triphasic course until the signal was lost when a tonic-clonic seizure occurred.</div></div><div><h3>Conclusion</h3><div>This chance sample illustrates that haemodynamic variables may change in different directions and asynchronously during focal seizures. We speculate that these complex autonomic patterns represent different ictal propagation pathways and that they may include ictal as well as corrective changes. BP decreased in all four seizures while the literature reports BP increases. As our patients were upright, not supine, we hypothesise that ictal haemodynamic changes impair normal control and are therefore likely to cause hypotension in the upright position.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"210 ","pages":"Article 107513"},"PeriodicalIF":2.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143104485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
4-Phenylbutyrate restored GABA uptake, mitigated seizures in SLC6A1 and SLC6A11 microdeletions/3p- syndrome: From cellular models to human patients 4-苯基丁酸恢复GABA摄取,减轻SLC6A1和SLC6A11微缺失/3p-综合征的癫痫发作:从细胞模型到人类患者
IF 2 4区 医学
Epilepsy Research Pub Date : 2025-02-01 DOI: 10.1016/j.eplepsyres.2025.107514
Melissa B. DeLeeuw , Wangzhen Shen , Xiaojuan Tian , Changhong Ding , Karishma Randhave , Jing-Qiong Kang
{"title":"4-Phenylbutyrate restored GABA uptake, mitigated seizures in SLC6A1 and SLC6A11 microdeletions/3p- syndrome: From cellular models to human patients","authors":"Melissa B. DeLeeuw ,&nbsp;Wangzhen Shen ,&nbsp;Xiaojuan Tian ,&nbsp;Changhong Ding ,&nbsp;Karishma Randhave ,&nbsp;Jing-Qiong Kang","doi":"10.1016/j.eplepsyres.2025.107514","DOIUrl":"10.1016/j.eplepsyres.2025.107514","url":null,"abstract":"<div><h3>Background</h3><div>Haploinsufficient deletions of GABA transporter 1 (GAT-1)- encoding <em>SLC6A1</em>, and GABA transporter 3 (GAT-3)-encoding <em>SLC6A11</em> are implicated in epileptic syndromes. Despite their significance, the impact of these deletions has not been characterized. Our previous work on <em>SLC6A1</em> missense mutations prompted a clinical trial for Ravicti (NCT04937062), a glycerol formulation of 4-phenylbutyrate (PBA), for treatment-resistant epilepsy. We observed phenotypic overlap between trial-eligible <em>SLC6A1</em> mutation patients and 3p- syndrome patients carrying deletions of <em>SLC6A1</em> and <em>SLC6A11</em>. This study characterizes the functional impact of these deletions and assesses the urgent question of whether 3p- syndrome patients could benefit from this treatment.</div></div><div><h3>Methods</h3><div>Chromosomal microarray analysis identified a deletion affecting one allele of both <em>SLC6A1</em> and <em>SLC6A11</em> in two pediatric patients with 3p- syndrome. Clinical phenotyping included electroencephalogram (EEG) recordings and neurodevelopmental assessments. Functional characterization was conducted using <sup>3</sup>H-labeled GABA uptake assays and Western blotting in HEK293T cells, comparing haploinsufficient and missense variant models.</div></div><div><h3>Results</h3><div>The haploinsufficient GAT-1 and GAT-3 conditions demonstrated reduced GABA uptake and protein expression, comparable to known <em>SLC6A1</em> missense variants. Post-treatment EEGs showed a moderate reduction in epileptiform discharges following PBA administration, and patients exhibited improved motor function. However, varying degrees of cognitive impairments persisted.</div></div><div><h3>Conclusions</h3><div>Haploinsufficiency of <em>SLC6A1</em> and <em>SLC6A11</em> contributes to the epileptic phenotypes observed in 3p- syndrome, marking this as the first study to biochemically characterize the functional impact of these deletions. Treatment with PBA may provide therapeutic benefits, particularly for addressing seizures and motor deficits, though further exploration of PBA’s long-term effects in patients with 3p- syndrome is warranted.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"210 ","pages":"Article 107514"},"PeriodicalIF":2.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143349038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Use of benzodiazepines in patients with status epilepticus requiring second-line antiseizure medication treatment 苯二氮卓类药物在需要二线抗癫痫药物治疗的癫痫持续状态患者中的应用。
IF 2 4区 医学
Epilepsy Research Pub Date : 2025-02-01 DOI: 10.1016/j.eplepsyres.2025.107507
Teemu Pöytäkangas , Pabitra Basnyat , Sirpa Rainesalo , Jukka Peltola , Jukka T. Saarinen
{"title":"Use of benzodiazepines in patients with status epilepticus requiring second-line antiseizure medication treatment","authors":"Teemu Pöytäkangas ,&nbsp;Pabitra Basnyat ,&nbsp;Sirpa Rainesalo ,&nbsp;Jukka Peltola ,&nbsp;Jukka T. Saarinen","doi":"10.1016/j.eplepsyres.2025.107507","DOIUrl":"10.1016/j.eplepsyres.2025.107507","url":null,"abstract":"<div><h3>Background</h3><div>Status epilepticus (SE) is a life-threatening state that needs rapid and adequate treatment. Benzodiazepines (BZD) are used as a first-line treatment for SE, and if the desired effect is not achieved, second-line antiseizure medications are used.</div></div><div><h3>Objective</h3><div>To investigate whether the treatment with BZDs is performed adequately in patients with different subtypes of SE requiring second-line ASM treatment and, if not, to identify the factors influencing the suboptimal treatment.</div></div><div><h3>Patients and methods</h3><div>This is a retrospective single centre study from the patient register of Tampere University Hospital including patients over 16 years of age with a diagnosis of SE, seizure or epilepsy and who received intravenous (IV) ASM during a one-year period in 2015. Treatment was considered to be suboptimal if it was not in line with the latest European, Finnish or American guidelines.</div></div><div><h3>Results</h3><div>In total, 109 episodes were registered. The largest group was that with convulsive SE with 56 episodes, followed by postictal with 23 episodes, nonconvulsive status epilepticus (NCSE) with 22 episodes, and focal awareness SE (FASE) with eight episodes. Overall, in 77 % of the episodes, BZDs were administered, and in 43 % of the episodes, treatment was in line with guidelines. In the NCSE group, BZD was administered less often and was less often in line with the guidelines than in the CSE group (27.3 % vs. 89.3 %, p &lt; 0.001 and 4.5 % vs. 55.4 %, p &lt; 0.001). For FASE episodes, the concordance with the guidelines was low. After IV administration, the mean BZD dose was lower than that after buccal administration of midazolam (2.1 mg vs. 8.7 mg) or after rectal administration of diazepam (4.5 mg vs. 10.0 mg). Lorazepam was administered only via the IV route, with mean dosage of 2.6 mg. Clinical characteristics did not influence the dosing of BZDs.</div></div><div><h3>Conclusions</h3><div>BZDs were both underdosed and underused for all subtypes of SE. In particular, their use for NCSE was infrequent and suboptimal. The divergence from the guidelines was influenced especially by low IV dosages.</div></div>","PeriodicalId":11914,"journal":{"name":"Epilepsy Research","volume":"210 ","pages":"Article 107507"},"PeriodicalIF":2.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142970201","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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