Seizure-European Journal of Epilepsy最新文献

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Diagnostics and Non-pharmacological interventions for refractory and super refractory status epilepticus in Germany: A comprehensive analysis of 4 years of billing data 德国难治性和超难治性癫痫状态的诊断和非药物干预:对 4 年收费数据的综合分析
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-04-08 DOI: 10.1016/j.seizure.2025.04.003
Larissa Fink , Berthold Voges , Marcel A. Kamp , Christiane von Saß , Maxine Dibué
{"title":"Diagnostics and Non-pharmacological interventions for refractory and super refractory status epilepticus in Germany: A comprehensive analysis of 4 years of billing data","authors":"Larissa Fink ,&nbsp;Berthold Voges ,&nbsp;Marcel A. Kamp ,&nbsp;Christiane von Saß ,&nbsp;Maxine Dibué","doi":"10.1016/j.seizure.2025.04.003","DOIUrl":"10.1016/j.seizure.2025.04.003","url":null,"abstract":"<div><h3>Background</h3><div>Status epilepticus (SE) is a critical neurological emergency, with its most severe form, refractory status epilepticus (RSE) and super-refractory status epilepticus (SRSE), posing significant treatment challenges and high mortality rates. Despite robust early-phase treatment evidence, effective management of RSE and SRSE remains less defined.</div></div><div><h3>Objective</h3><div>This study aimed to assess the incidence of potential RSE and SRSE in Germany from 2019 to 2022, evaluate diagnostic and non-pharmacological interventions, and analyze associated healthcare costs.</div></div><div><h3>Methods</h3><div>A cross-sectional retrospective analysis was conducted using data from the Institute for the Hospital Remuneration System (InEK). Cases were identified using ICD-10 code G41 and included patients who underwent mechanical ventilation for at least one hour. Data on demographics, diagnostic procedures, therapeutic interventions, discharge outcomes, and healthcare costs were extracted and analyzed.</div></div><div><h3>Results</h3><div>Between 2019 and 2022, 89,921 SE cases were identified, with 21,729 (24.2 %) progressing to potential RSE or SRSE. Male patients comprised 56 % of these cases. The majority of cases occurred in patients aged 65–74 years. The overall mortality or hospice transfer rate for potential RSE/SRSE cases was 33.7 %. Common diagnostic procedures included EEG (80 %) and CT scans (113 %), while non-pharmacological interventions such as hypothermia therapy were used in 10 % of cases, and plasmapheresis was employed in 1 %. Electroconvulsive therapy, vagus nerve stimulation, deep brain stimulation, transcranial magnetic stimulation, ketogenic diet, resection of foreign tissue from the brain, and epilepsy surgery were not performed at all. 4 % of the patients who died in the hospital or were discharged to a hospice received interventions in a palliative care setting. The total estimated cost for potential RSE/SRSE cases in 2022 was approximately €44.24 million, highlighting the economic burden on the healthcare system.</div></div><div><h3>Conclusion</h3><div>The study underscores the need for improved diagnostic and therapeutic strategies in managing RSE and SRSE. It also calls for exploration of non-pharmacological treatments to reduce the high mortality and economic costs associated with these conditions. Further research is essential to establish evidence-based protocols for RSE and SRSE management.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 108-114"},"PeriodicalIF":2.7,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143864709","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}
引用次数: 0
Stereoelectroencephalography versus subdural electrodes for invasive monitoring of drug-resistant epilepsy patients: a systematic review and meta-analysis 立体脑电图与硬膜下电极对耐药癫痫患者的侵入性监测:一项系统回顾和荟萃分析
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-04-02 DOI: 10.1016/j.seizure.2025.04.001
Fernando Cotrim Gomes , Anna Laura Lima Larcipretti , Ofonime Chantal Udoma-Udofa , Bárbara Alves de Abreu Rocha , Maria Eduarda Bezerra Mota , Mateus Machado Decina , Júlia Oliveira Dabien Haddad , Matheus de Andrade Bannach , Niels Pacheco-Barrios , John D. Rolston
{"title":"Stereoelectroencephalography versus subdural electrodes for invasive monitoring of drug-resistant epilepsy patients: a systematic review and meta-analysis","authors":"Fernando Cotrim Gomes ,&nbsp;Anna Laura Lima Larcipretti ,&nbsp;Ofonime Chantal Udoma-Udofa ,&nbsp;Bárbara Alves de Abreu Rocha ,&nbsp;Maria Eduarda Bezerra Mota ,&nbsp;Mateus Machado Decina ,&nbsp;Júlia Oliveira Dabien Haddad ,&nbsp;Matheus de Andrade Bannach ,&nbsp;Niels Pacheco-Barrios ,&nbsp;John D. Rolston","doi":"10.1016/j.seizure.2025.04.001","DOIUrl":"10.1016/j.seizure.2025.04.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Invasive monitoring for epilepsy surgery is critical for localizing epileptogenic zones. Stereoelectroencephalography (SEEG) and subdural electrodes (SDE) are two primary techniques used for this purpose. This meta-analysis aims to compare the effectiveness and safety of SEEG and SDE regarding various clinical outcomes in patients undergoing invasive epilepsy monitoring.</div></div><div><h3>Methods</h3><div>We conducted a systematic review and meta-analysis of studies comparing SEEG and SDE for invasive epilepsy monitoring. PubMed, Embase, and Cochrane Library databases were searched for relevant studies. Two reviewers performed data extraction and quality assessment through Cochrane's ROBINS-I tool independently. Statistical analyses were conducted using a random-effects model in R Studio.</div></div><div><h3>Results</h3><div>A total of 16 studies involving 3751 patients were included in the analysis, with 1750 who underwent SDE and 2001 in the SEEG group. There was no statistically significant difference between groups regarding seizure freedom at last follow-up (OR 1.05; 95 % CI 0.61–1.81; I2 = 56 %; <em>p</em> = 0.86). The SEEG group, however, was associated with lower incidence of complications (OR 0.50; 95 %CI 0.28, 0.91; I<sup>2</sup> 74 %; <em>p</em> &lt; 0.01), fewer major bleeding events (OR 0.23; 95 %CI 0.11, 0.49; I<sup>2</sup> 0 %; <em>p</em> &lt; 0.01), fewer post-operative neurological deficits (OR 0.39; 95 %CI 0.21, 0.73; I<sup>2</sup> 23 %; <em>p</em> &lt; 0.05), and shorter operative time (MD -76.28 min; 95 %CI -101.86, -50.70; I<sup>2</sup> 92 %; <em>p</em> &lt; 0.05).</div></div><div><h3>Conclusion</h3><div>SEEG and SDE are both effective in achieving seizure freedom for drug-resistant epilepsy patients undergoing invasive monitoring. SEEG may offer advantages in terms of safety and healthcare utilization, with fewer complications and shorter operative times. These findings support the growing adoption of SEEG as a preferred method for epilepsy surgery, though further prospective studies are needed to validate these results.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 33-41"},"PeriodicalIF":2.7,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143799688","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}
引用次数: 0
What extent of adverse drug reactions seems acceptable for what degree of seizure reduction in paediatric patients with epilepsy?—An exploratory study on the parents' perspective 何种程度的药物不良反应似乎是可接受的,以何种程度的癫痫发作减少儿童癫痫患者?——父母视角的探索性研究
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-04-02 DOI: 10.1016/j.seizure.2025.04.002
Martina P. Neininger , Esther Meise , Sarah Jeschke , Samuel Tomczyk , Silke Schmidt-Schuchert , Thilo Bertsche , Astrid Bertsche
{"title":"What extent of adverse drug reactions seems acceptable for what degree of seizure reduction in paediatric patients with epilepsy?—An exploratory study on the parents' perspective","authors":"Martina P. Neininger ,&nbsp;Esther Meise ,&nbsp;Sarah Jeschke ,&nbsp;Samuel Tomczyk ,&nbsp;Silke Schmidt-Schuchert ,&nbsp;Thilo Bertsche ,&nbsp;Astrid Bertsche","doi":"10.1016/j.seizure.2025.04.002","DOIUrl":"10.1016/j.seizure.2025.04.002","url":null,"abstract":"<div><div>Purpose We aimed to explore the perspectives of parents of children with epilepsy regarding the extent of adverse drug reactions (ADRs) of antiseizure medications (ASMs) they are willing to accept for a certain degree of seizure reduction.</div><div>Methods We presented a table showing two levels of the likelihood of occurrence (low/high) and two levels of severity (mild/severe) for a number of ADRs including irritability, impairment of attention, and fatigue. For each combination of likelihood and severity, 98 parents were asked to indicate the degree of seizure reduction for which they were willing to accept the given ADR.</div><div>Results Even in exchange for seizure-freedom, severe irritability occurring with a high likelihood was unacceptable to 53 % of parents. This applied to 51 % concerning impairment of attention, and to 40 % concerning fatigue. At 50 % seizure reduction, 2 % of parents were willing to accept a high likelihood of occurrence of severe irritability. This applied to 5 % of parents concerning impairment of attention, and 9 % of parents concerning fatigue. With regard to mild forms of ADRs very likely to occur, 16 % of parents considered impairment of attention to be unacceptable despite seizure freedom; this applied to 12 % of parents for irritability, and 6 % of parents for fatigue.</div><div>Conclusion Even for seizure freedom or a major reduction in seizures, parents often refused to accept ADRs. Therefore, it is important to consider the parents’ perspective when choosing an ASM, and to find the optimal balance between desired effectiveness and ADRs acceptable to parents and paediatric patients.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 29-32"},"PeriodicalIF":2.7,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143785220","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
A real-world comparison between the diagnostic yield of trio-whole exome sequencing and proband-only targeted exome sequencing in complex childhood epilepsy 三全外显子组测序和仅先证者靶向外显子组测序在复杂儿童癫痫中的诊断产量的现实世界比较
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-04-01 DOI: 10.1016/j.seizure.2025.03.020
Alfiya Fasaludeen , Manna Jose , Aswathi U , Surabhi Prasannakumar , Moinak Banerjee , Soumya Sundaram , Madhusoodanan UK , Ashalatha Radhakrishnan , Ramshekhar N Menon
{"title":"A real-world comparison between the diagnostic yield of trio-whole exome sequencing and proband-only targeted exome sequencing in complex childhood epilepsy","authors":"Alfiya Fasaludeen ,&nbsp;Manna Jose ,&nbsp;Aswathi U ,&nbsp;Surabhi Prasannakumar ,&nbsp;Moinak Banerjee ,&nbsp;Soumya Sundaram ,&nbsp;Madhusoodanan UK ,&nbsp;Ashalatha Radhakrishnan ,&nbsp;Ramshekhar N Menon","doi":"10.1016/j.seizure.2025.03.020","DOIUrl":"10.1016/j.seizure.2025.03.020","url":null,"abstract":"<div><h3>Purpose</h3><div>Exome sequencing is the preferred method for the molecular diagnosis of childhood drug-resistant epilepsies (DRE) of uncertain etiology, particularly the developmental and epileptic encephalopathies (DEE) with a challenge being genotype-phenotype heterogeneity. This study assesses the diagnostic utility of trio-whole exome sequencing (trio-WES) over a panel-based targeted exome sequencing (TES).</div></div><div><h3>Methods</h3><div>We performed genetic testing in 400 probands (age of onset &lt;12 years) who had been diagnosed with complex pediatric epilepsy syndromes (refractory focal/generalized epilepsies of uncertain etiology and DEE). Among the 400 probands, 158 underwent trio-WES and 242 underwent TES.</div></div><div><h3>Results</h3><div>The overall yield of pathogenic/likely pathogenic variants was similar, at 42.1 % for 242 patients who underwent TES and 42.4 % for 158 patients with trio-WES. However, among 67 disease causing variants identified by trio-WES, 67.2 % were established as <em>de novo</em> at baseline evaluation. A major highlight is that trio-WES achieved a diagnosis in 10 (35.7 %) of 28 patients with inconclusive/negative TES. The cost analysis shows that trio-WES ($534) is probably the more cost-effective method in early childhood wherein <em>de novo</em> pathogenic variants are likely to be causative, as ordering it after negative or inconclusive TES results will have an added cost.</div></div><div><h3>Conclusion</h3><div>This study demonstrates real world utility of trio-WES as a useful and cost-efficient tool for determining <em>de novo</em> genetic etiologies for unexplained childhood DRE phenotypes.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 51-54"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143823815","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}
引用次数: 0
Amygdalar lesions may impair emotion recognition in patients with temporal lobe epilepsy: Results from a pilot study 杏仁核病变可能损害颞叶癫痫患者的情绪识别:一项初步研究的结果
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-03-29 DOI: 10.1016/j.seizure.2025.03.019
Birgitta Metternich , Nina Gehrer , Kathrin Wagner , Lisa Putzar , Martin Hirsch , Lena Bender , Christina Grammenou , Luca Büchtemann , Andreas Schulze-Bonhage , Horst Urbach , Michael Schönenberg
{"title":"Amygdalar lesions may impair emotion recognition in patients with temporal lobe epilepsy: Results from a pilot study","authors":"Birgitta Metternich ,&nbsp;Nina Gehrer ,&nbsp;Kathrin Wagner ,&nbsp;Lisa Putzar ,&nbsp;Martin Hirsch ,&nbsp;Lena Bender ,&nbsp;Christina Grammenou ,&nbsp;Luca Büchtemann ,&nbsp;Andreas Schulze-Bonhage ,&nbsp;Horst Urbach ,&nbsp;Michael Schönenberg","doi":"10.1016/j.seizure.2025.03.019","DOIUrl":"10.1016/j.seizure.2025.03.019","url":null,"abstract":"<div><h3>Purpose</h3><div>Deficits in basic emotion recognition have been documented in temporal lobe epilepsy (TLE). Although numerous imaging studies have suggested a critical role for the importance of the amygdalae in emotion recognition, investigations comparing TLE patients with and without amygdalar pathology (AmyD) are lacking. The goal of the present study is to compare these subgroups of patients with TLE.</div></div><div><h3>Methods</h3><div>Twenty-five patients with TLE (12 with AmyD, 13 without amygdalar pathology (no AmyD)), and twenty-four healthy controls (CG) performed an animated morph task with faces showing basic emotions gradually changing in their emotional intensity. In an auditory task, subjects listened to neutral sentences spoken with varying emotional prosody.</div></div><div><h3>Results</h3><div>AmyD patients showed significantly reduced prosody recognition and morph task performance compared to CG. Patients with AmyD showed worse prosody recognition performance compared to no AmyD.</div></div><div><h3>Conclusion</h3><div>In the present study, only TLE patients <em>with</em> amygdalar pathology showed deficits in visual and auditory emotion recognition. These results provide preliminary evidence for the importance of intact amygdalae in TLE for basic emotion processing in both modalities. The findings need to be confirmed in studies with larger samples.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 42-46"},"PeriodicalIF":2.7,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143808109","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}
引用次数: 0
Epilepsy-related mortality: A cross-sectional study in a tertiary center in Riyadh, Saudi Arabia 癫痫相关死亡率:沙特阿拉伯利雅得三级中心的横断面研究
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-03-28 DOI: 10.1016/j.seizure.2025.03.018
Ali Alanazi , Abdulaziz A. Aldbas , Reem S. Alamri , Joza D Alenzi , Emad Masuadi
{"title":"Epilepsy-related mortality: A cross-sectional study in a tertiary center in Riyadh, Saudi Arabia","authors":"Ali Alanazi ,&nbsp;Abdulaziz A. Aldbas ,&nbsp;Reem S. Alamri ,&nbsp;Joza D Alenzi ,&nbsp;Emad Masuadi","doi":"10.1016/j.seizure.2025.03.018","DOIUrl":"10.1016/j.seizure.2025.03.018","url":null,"abstract":"<div><h3>Objective</h3><div>People with epilepsy (PWE) have higher likelihood of dying prematurely compared to the general population. However, data on epilepsy mortality in some regions of the world are deficient or completely absent. The aim of this study was to investigate epilepsy-related deaths in PWE in a tertiary care center in Riyadh, Saudi Arabia.</div></div><div><h3>Methods</h3><div>PWE who expired in the period from 2016 to 2020 at King Abdulaziz Medical City in Riyadh, Saudi Arabia were included. Demographic data, epilepsy classification, and causes of death were retrieved from the patients’ electronic medical records, and death certificates. Death causes were classified based on Devinsky's classification.</div></div><div><h3>Results</h3><div>We found that 145 PWE died during the study period. The median age at death was 66 years, with an interquartile range of 49–78. Half of the patients who died were male (50.3 %). Of the 145 deaths, 93 (64.1 %) were unrelated to epilepsy, 27 (18.6 %) were due to underlying neurological disease, 15 (10.3 %) were directly due to epilepsy, 7 (4.8 %) were indirectly due to epilepsy, and 3 (2.1 %) were due to acute symptomatic seizures. Sudden unexpected death in epilepsy (SUDEP) has never been recorded as a cause of death in any of the cases.</div></div><div><h3>Significance</h3><div>Epilepsy-related deaths are largely overlooked by physicians who document death certificates. More efforts are needed to increase awareness among physicians about SUDEP and epilepsy-related mortality.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 47-50"},"PeriodicalIF":2.7,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143820349","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}
引用次数: 0
Identifying hotspots of seizure-related hospital admissions in Australia 确定澳大利亚与癫痫发作有关的入院热点
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-03-27 DOI: 10.1016/j.seizure.2025.03.017
Subramanian Muthusamy , Albert L G Phan , Udaya Seneviratne , Richard Beare , Velandai Srikanth , Henry Ma , Thanh G Phan
{"title":"Identifying hotspots of seizure-related hospital admissions in Australia","authors":"Subramanian Muthusamy ,&nbsp;Albert L G Phan ,&nbsp;Udaya Seneviratne ,&nbsp;Richard Beare ,&nbsp;Velandai Srikanth ,&nbsp;Henry Ma ,&nbsp;Thanh G Phan","doi":"10.1016/j.seizure.2025.03.017","DOIUrl":"10.1016/j.seizure.2025.03.017","url":null,"abstract":"<div><h3>Background</h3><div>This study aimed to: (1) map geographic trends of seizure-related hospitalizations across Australia, (2) identify hotspots in hospitalization rates, and (3) assess geographic inequities in access to specialized services for seizure disorders.</div></div><div><h3>Methods</h3><div>Standardized seizure admission ratios (SR) were calculated using publicly available hospital admissions data incorporating the diagnoses of epilepsy, status epilepticus and convulsions for the year 2020–21 in Australia. Forward selection was used to ascertain optimal subset of covariates for spatial regression models. Model fitness was evaluated using Deviance Information Criterion and Watanabe-Akaike Information Criterion. Tiered hospital catchment maps and relationships between hospitals were generated based on proximity and available specialized services. A web-based application was created to view results and includes a search function to identify tiers of hospitals for Australian addresses (<span><span>https://gntem3.shinyapps.io/epilepsyadmissions/</span><svg><path></path></svg></span>).</div></div><div><h3>Results</h3><div>Although the absolute number of hospitalizations was low, the Northern Territory had three local government areas (LGAs) with the highest SRs (e.g., MacDonnell LGA (SR 5.29, <em>n</em> = 50)). Hotspots were more frequently observed in regional and remote LGAs but were also present in urban areas (e.g., Geelong LGA (SR 1.24)). The bestperforming spatial regression model incorporated kidney disease, cancer, diabetes, mental health conditions, and the number of family physicians per 100,000 people as significant covariates.</div></div><div><h3>Conclusion</h3><div>Hotspots of seizure-related hospitalizations are often located in areas with limited access to specialized services, underscoring the geographic inequities in care delivery. Addressing these disparities through further modelling of spatial trends and targeted resource allocation is essential for improving equitable healthcare access for seizure disorders.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 70-76"},"PeriodicalIF":2.7,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143829211","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}
引用次数: 0
Explosive onset focal epilepsies without cortical malformation: A review of a pediatric cohort with pathogenic variations in the GATOR1 complex (DEPDC5, NPRL3 and NPRL2) 无皮质畸形的爆发性局灶性癫痫:GATOR1复合物(DEPDC5, NPRL3和NPRL2)致病性变异的儿童队列回顾
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-03-24 DOI: 10.1016/j.seizure.2025.03.013
Sarah Baer , Marie-Thérèse Abi Wardé , Marie-Aude Spitz , Lucas Gauer , Edouard Hirsch , Vincent Laugel , Maria Paola Valenti Hirsch , Carole Lambert , Amélie Piton , Caroline Schluth-Bolard , Julia Scholly , Margaux Biehler , Clotilde Boulay , Anne de Saint Martin
{"title":"Explosive onset focal epilepsies without cortical malformation: A review of a pediatric cohort with pathogenic variations in the GATOR1 complex (DEPDC5, NPRL3 and NPRL2)","authors":"Sarah Baer ,&nbsp;Marie-Thérèse Abi Wardé ,&nbsp;Marie-Aude Spitz ,&nbsp;Lucas Gauer ,&nbsp;Edouard Hirsch ,&nbsp;Vincent Laugel ,&nbsp;Maria Paola Valenti Hirsch ,&nbsp;Carole Lambert ,&nbsp;Amélie Piton ,&nbsp;Caroline Schluth-Bolard ,&nbsp;Julia Scholly ,&nbsp;Margaux Biehler ,&nbsp;Clotilde Boulay ,&nbsp;Anne de Saint Martin","doi":"10.1016/j.seizure.2025.03.013","DOIUrl":"10.1016/j.seizure.2025.03.013","url":null,"abstract":"<div><div>GATOR1 complex genes (<em>DEPDC5, NPRL2, NPRL3</em>) are associated with focal epilepsies, often without cortical malformations or intellectual disabilities. Our study focused on 10 children, with GATOR1 pathogenic variation and negative MRIs, all experiencing focal epilepsy onset between ages 1 and 7 years. Three were initially misdiagnosed with immune encephalitis, with seizure frequencies ranging from 2 per week to 40 per day. The seizures were monofocal and stereotyped in the same child. No recurrent brain localization was found in EEG, clinical data, or MRI. After achieving early developmental milestones, some patients developed cognitive or psychiatric challenges during active seizures. Over 1 to 14 years, three experienced recurrent status epilepticus, triggered by infections or medication changes. Currently, two patients are seizure-free on antiepileptic medications, while six continue to have frequent seizures. Notably, only half showed concordance between EEG and PET scan anomalies. Pathogenic variations included five in <em>DEPDC5</em>, four in <em>NPRL3</em>, and one in <em>NPRL2</em>, with six inherited from parents 3 of them being unaffected. The timeline for genetic analysis requests has significantly shortened over time. In cases of pharmacoresistant monofocal epilepsy with normal MRIs, in children with normal development—especially with a family history—testing for GATOR1 variations should be prioritized.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 25-28"},"PeriodicalIF":2.7,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143783877","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}
引用次数: 0
A heterozygous pathogenic RELN variant in autosomal dominant lateral temporal epilepsy 常染色体显性外侧颞叶癫痫的杂合致病性RELN变异
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-03-20 DOI: 10.1016/j.seizure.2025.03.015
Si-Lei Fong , Kheng-Seang Lim , Mohd Zaki Salleh , Lay-Kek Teh
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引用次数: 0
Seizure detection using the wristband accelerometer, gyroscope, and surface electromyogram signals based on in-hospital and out-of-hospital dataset 使用腕带加速计、陀螺仪和基于院内和院外数据集的表面肌电图信号进行癫痫检测
IF 2.7 3区 医学
Seizure-European Journal of Epilepsy Pub Date : 2025-03-20 DOI: 10.1016/j.seizure.2025.03.016
Guangming Wang , Hao Yan , Wen Li , Duozheng Sheng , Liankun Ren , Qun Wang , Hua Zhang , Guojun Zhang , Tao Yu , Gang Wang
{"title":"Seizure detection using the wristband accelerometer, gyroscope, and surface electromyogram signals based on in-hospital and out-of-hospital dataset","authors":"Guangming Wang ,&nbsp;Hao Yan ,&nbsp;Wen Li ,&nbsp;Duozheng Sheng ,&nbsp;Liankun Ren ,&nbsp;Qun Wang ,&nbsp;Hua Zhang ,&nbsp;Guojun Zhang ,&nbsp;Tao Yu ,&nbsp;Gang Wang","doi":"10.1016/j.seizure.2025.03.016","DOIUrl":"10.1016/j.seizure.2025.03.016","url":null,"abstract":"<div><h3>Objective</h3><div>Wearable devices are effective for detecting generalized tonic-clonic seizures (GTCS). However, many daily activities are often misclassified as GTCS, leading to a decline in user confidence. This study recommends utilizing wristband three-axis accelerometer (ACC), three-axis gyroscope (GYRO), and surface electromyography (sEMG) signals for GTCS detection and presents a novel seizure detection algorithm that offers high sensitivity and a reduced false alarm rate (FAR).</div></div><div><h3>Methods</h3><div>Inpatients with epilepsy and out-of-hospital healthy subjects were recruited and required to wear a wristband device to collect wristband signals. The proposed algorithm comprises five steps: preprocessing, motion filtering, feature extraction, classification, and postprocessing. The variations in performance across different signal combinations were compared. Additionally, the impact of training the model using only inpatient data versus the complete dataset on the algorithm's performance was also investigated.</div></div><div><h3>Results</h3><div>Wristband signals were collected from 45 patients and 30 healthy subjects, encompassing a total of 3367.3 h and including 60 GTCS. The proposed algorithm achieved 100 % sensitivity and a FAR of 0.1070/24 h. It demonstrated higher sensitivity and lower FAR compared to combinations with fewer signal modalities. In addition, the model trained on only in-hospital data demonstrates high sensitivity (98.33 %) and high FAR (0.9845/24 h).</div></div><div><h3>Significance</h3><div>The algorithm proposed for detecting GTCS using wristband ACC, GYRO, and sEMG signals achieved encouraging results, demonstrating the feasibility of this signal combination. Furthermore, incorporating out-of-hospital data into model training proved to be an effective solution for reducing FAR, which could facilitate the clinical application of seizure detection algorithms.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"127 ","pages":"Pages 127-134"},"PeriodicalIF":2.7,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143703955","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}
引用次数: 0
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