Seizure-European Journal of Epilepsy最新文献

{"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}

{"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}

{"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}

{"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}

{"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}

{"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}

{"title":"A heterozygous pathogenic RELN variant in autosomal dominant lateral temporal epilepsy","authors":"Si-Lei Fong ,&nbsp;Kheng-Seang Lim ,&nbsp;Mohd Zaki Salleh ,&nbsp;Lay-Kek Teh","doi":"10.1016/j.seizure.2025.03.015","DOIUrl":"10.1016/j.seizure.2025.03.015","url":null,"abstract":"","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 22-24"},"PeriodicalIF":2.7,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143740075","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":"Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures","authors":"Christiane K. Bauer ,&nbsp;Fanny Kortüm ,&nbsp;Anna Möllring ,&nbsp;Lev Grinstein ,&nbsp;Jonas Denecke ,&nbsp;Malik Alawi ,&nbsp;Robert Bähring ,&nbsp;Frederike L. Harms","doi":"10.1016/j.seizure.2025.03.014","DOIUrl":"10.1016/j.seizure.2025.03.014","url":null,"abstract":"<div><h3>Introduction</h3><div>The <em>KCNH</em> gene family encodes voltage-gated potassium (Kv) channels of the EAG subtype covering three subfamilies (Kv10–12). EAG channels are involved in the control of cardiac and neuronal excitation, and pathogenic variants in <em>KCNH</em> genes encoding Kv10 (eag) and Kv11 (erg) subfamily members cause a broad clinical spectrum ranging from cardiac arrhythmia to neurodevelopmental syndromes. However, no pathogenic variants have been hitherto reported for <em>KCNH</em> genes encoding Kv12 (elk) subfamily members.</div></div><div><h3>Methods</h3><div>Clinical, genomic, and functional studies were performed, including voltage-clamp experiments using heterologous channel expression in <em>Xenopus</em> oocytes.</div></div><div><h3>Results</h3><div>We examined an eight-year-old girl presenting with global developmental delay, intellectual disability, autistic and aggressive behavior, hyperactivity, insomnia, and nocturnal seizures. Focal seizures were successfully treated with sulthiame, which reduced the occurrence of temporo-parietal spike-wave paroxysms. Trio exome sequencing revealed a heterozygous <em>de novo</em> missense variant, NM_012284.3:c.1112C&gt;<em>T</em>; p.(Ala371Val), in <em>KCNH3</em>, which encodes the Kv channel α-subunit Kv12.2. The amino acid substitution associated with the <em>KCNH3</em> variant identified in the patient is located at a site highly conserved in EAG channels. The analogous variant in <em>KCNH2</em> causes long-QT-syndrome 2, and has also been associated with epilepsy. Electrophysiological characterization of the <em>KCNH3</em> p.(Ala371Val) variant demonstrated loss-of-function of the mutant Kv12.2 channels and strongly reduced current amplitudes upon co-expression of wildtype and mutant channel subunits in a dominant-negative manner.</div></div><div><h3>Conclusion</h3><div>Our results propose <em>KCNH3</em>, which is primarily expressed in the nervous system, as a new disease gene associated with a neurodevelopmental phenotype including seizures.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 14-21"},"PeriodicalIF":2.7,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143725520","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}

{"title":"Biallelic SCN1A variants with divergent epilepsy phenotypes","authors":"Rowan Pentz ,&nbsp;Rebecca Hough ,&nbsp;Chumei Li ,&nbsp;Mark Tarnopolsky ,&nbsp;Kevin Jones ,&nbsp;Rajesh RamachandranNair ,&nbsp;Robyn Whitney","doi":"10.1016/j.seizure.2025.03.009","DOIUrl":"10.1016/j.seizure.2025.03.009","url":null,"abstract":"<div><h3>Purpose</h3><div>Pathogenic <em>SCN1A</em> variants most commonly cause autosomal dominant Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+). However, rare homozygous <em>SCN1A</em> variants have also been reported. We report two new cases of homozygous <em>SCN1A</em> variants associated with divergent epilepsy phenotypes.</div></div><div><h3>Methods</h3><div>We retrospectively reviewed the charts of two unrelated patients with different homozygous <em>SCN1A</em> variants. We also reviewed all published cases of biallelic <em>SCN1A</em> pathogenic variants, focusing on the epilepsy phenotypes.</div></div><div><h3>Results</h3><div>Patient 1 had a homozygous c. 1676T&gt;A, (p. Ile559Asn) variant of uncertain significance, inherited from asymptomatic parents. Patient 1 exhibited early afebrile seizures controlled by first-line anti-seizure medications and no febrile seizures or status epilepticus, as well as profound developmental delay, macrocephaly, and mild dysmorphic features. Patient 2 had a homozygous pathogenic c. 4970G&gt;A, (p. Arg1657His) variant carried by asymptomatic parents. This patient presented with early, recurrent, and prolonged febrile seizures, moderate developmental delay, and motor dysfunction and was diagnosed with Dravet syndrome. We identified 16 further cases from the literature. Including our cases, 9/18 (50 %) were diagnosed with Dravet syndrome and 6/18 (33 %) with GEFS+. The mean age of seizure onset was 7 months (range 3–19 months). Phenotypes ranged from intact neurodevelopment with controlled epilepsy to profound developmental delay and refractory epilepsy.</div></div><div><h3>Conclusion</h3><div>These cases highlight and expand the phenotypic spectrum associated with biallelic <em>SCN1A</em> variants. While some patients present typically for Dravet/GEFS+, others may present with developmental delay in the absence of febrile seizures or status epilepticus. Further studies are needed to confirm genotype-phenotype relationships.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"127 ","pages":"Pages 88-93"},"PeriodicalIF":2.7,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143686839","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}

{"title":"Cenobamate in developmental and epileptic encephalopathies and generalized epilepsies: A case report on epilepsy with myoclonic-atonic seizures and systematic review of current evidence","authors":"Zafeirenia Vlakou ,&nbsp;Anna Keramida ,&nbsp;Vasiliki Kotsali-Peteinelli ,&nbsp;Alexandros Matsingos ,&nbsp;Maria Konstantinidi ,&nbsp;Maria Chondrogianni ,&nbsp;Georgios Tsivgoulis ,&nbsp;Anastasios Bonakis ,&nbsp;Panagiota-Eleni Tsalouchidou","doi":"10.1016/j.seizure.2025.03.012","DOIUrl":"10.1016/j.seizure.2025.03.012","url":null,"abstract":"<div><h3>Background</h3><div>Cenobamate (CNB) has demonstrated remarkable efficacy in the treatment of drug-resistant focal epilepsy (FE). However, its role in other epilepsy types - such as drug-resistant generalized epilepsies (GEs), combined generalized and focal epilepsies (CGFEs), and developmental and epileptic encephalopathies (DEEs) - remains poorly explored. This article assesses the current evidence of CNB efficacy in these often complex and challenging patient populations.</div></div><div><h3>Methods</h3><div>A case report is presented detailing a 22-year-old male with drug-resistant epilepsy with myoclonic-atonic seizures (EMAtS) who achieved seizure freedom on CNB. A systematic literature review was conducted to evaluate CNB's efficacy in GEs, CGFEs, and DEEs, summarizing seizure outcomes, adverse events (AEs), and dose-response relationships.</div></div><div><h3>Results</h3><div>The case report highlights a patient achieving 18 months of sustained seizure freedom and improved quality of life with tapering of concomitant antiseizure medications (ASMs). The systematic review included 32 patients from six studies. Overall, 59.4 % achieved <em>a</em> ≥ 50 % seizure reduction, and 9.4 % attained seizure freedom. Subgroup analysis showed ≥50 % reduction in 50 % of patients with Lennox-Gastaut syndrome (LGS) and 80 % with Dravet syndrome (DS), with seizure freedom rates of 20 % in DS and 50 % in epilepsy with eyelid myoclonia (EEM). AEs, primarily sedation and fatigue, were reported in 74 % of patients, while 31.25 % reduced or tapered off ASMs.</div></div><div><h3>Discussion</h3><div>CNB demonstrates potential efficacy in managing seizures across drug-resistant epilepsy syndromes, extending its established use beyond FE. Further prospective trials are needed to validate these findings and optimize dosing strategies.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"129 ","pages":"Pages 1-8"},"PeriodicalIF":2.7,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143695977","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}