Seizure-European Journal of Epilepsy最新文献

{"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}

{"title":"The effects of low glycemic index diet on epileptic seizure frequency, oxidative stress, mental health, and health-related quality of life in children with drug-resistant epilepsy","authors":"Gamze Yurtdaş Depboylu ,&nbsp;Olgay Bildik ,&nbsp;Gülşah Kaner ,&nbsp;Pınar Gençpınar ,&nbsp;Nihal Olgaç Dündar","doi":"10.1016/j.seizure.2025.03.010","DOIUrl":"10.1016/j.seizure.2025.03.010","url":null,"abstract":"<div><h3>Aim</h3><div>There is a gap in the existing literature regarding the evaluation of the effects of low glycemic index diet (LGID) on Turkish patients with drug-resistant epilepsy (DRE), as well as the impact of an LGID on oxidative stress markers in this population. This study aimed to evaluate the efficacy of an LGID on seizure frequency, oxidative stress markers [malondialdehyde (MDA), paraoxonase-1 (PON-1), total antioxidant status (TAS), and total oxidant status (TOS)], mental health, and health-related quality of life (HRQOL) in Turkish children with DRE.</div></div><div><h3>Methods</h3><div>The study used a pre-post design without a control group and involved 34 children with DRE. Seizure frequency, dietary intake, anthropometry, and biochemical parameters were assessed at baseline and after 3 months of LGID treatment. Behavioral and emotional difficulties were assessed with the “Strengths and Difficulties Questionnaire (SDQ)”. The depressive symptoms were evaluated using the “Children's Depression Inventory (CDI)” and HRQOL was assessed with the “Pediatric Inventory of Quality of Life (PedsQL)”.</div></div><div><h3>Results</h3><div>Thirty of the 34 included children completed the three-month LGID treatment. By the study's end, 38.2 % (13/34) achieved &gt;50 % seizure reduction and 41.2 % (14/34) were seizure-free. Glucose (<em>p</em> &lt; 0.001), insulin (<em>p</em> = 0.005), CRP (<em>p</em> = 0.046), and triglyceride levels (<em>p</em> = 0.015) significantly decreased. MDA levels decreased (<em>p</em> &lt; 0.001), whereas PON-1 levels increased significantly (<em>p</em> = 0.035). There was a significant improvement in all subscales of the HRQOL (<em>p</em> &lt; 0.001), as well as the total HRQOL and CDI scores (<em>p</em> &lt; 0.001). According to the SDQ, the conduct problems, hyperactivity/inattention, and emotional symptoms scores were significantly decreased. There was a negative correlation between MDA (<em>r</em> = -0.512, <em>p</em> = 0.005) and LGID efficacy after 3 months of LGID. Serum levels of MDA and glucose were positively correlated (<em>r</em> = 0.412, <em>p</em> = 0.033).</div></div><div><h3>Conclusion</h3><div>LGID shows promise in reducing seizures and improving oxidative stress, mental health, and quality of life for pediatric DRE in the short term. Further research is needed to address the limitations (small sample size, no control group, etc.) and investigate LGID's long-term effects.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"127 ","pages":"Pages 57-65"},"PeriodicalIF":2.7,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671536","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":"Novel epilepsy phenotype associated with a pathogenic GABRG2 variant","authors":"Raid Hommady ,&nbsp;Vivek Pai ,&nbsp;Fay Zhai ,&nbsp;Ashish R. Deshwar ,&nbsp;Robyn Whitney ,&nbsp;Suvasini Sharma ,&nbsp;Puneet Jain","doi":"10.1016/j.seizure.2025.03.007","DOIUrl":"10.1016/j.seizure.2025.03.007","url":null,"abstract":"<div><div>None.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"127 ","pages":"Pages 101-104"},"PeriodicalIF":2.7,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143686840","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":"Sodium channel blockers for the treatment of focal epilepsy: A Chinese expert consensus","authors":"Raowei Yan ,&nbsp;Hesheng Zhang ,&nbsp;Zhen Hong ,&nbsp;Weiping Liao ,&nbsp;Xuefeng Wang ,&nbsp;Yuping Wang ,&nbsp;Bo Xiao ,&nbsp;Yanchun Deng ,&nbsp;Meiping Ding ,&nbsp;Xiong Han ,&nbsp;Shuli Liang ,&nbsp;Weihong Lin ,&nbsp;Xiaorong Liu ,&nbsp;Xuewu Liu ,&nbsp;Xin Wang ,&nbsp;Tiancheng Wang ,&nbsp;Xiangqing Wang ,&nbsp;Xiaoshan Wang ,&nbsp;Peimin Yu ,&nbsp;Kai Zhang ,&nbsp;Dong Zhou","doi":"10.1016/j.seizure.2025.02.016","DOIUrl":"10.1016/j.seizure.2025.02.016","url":null,"abstract":"<div><h3>Purpose</h3><div>To provide consensus-based recommendations for the use of sodium channel blockers (SCBs) in the management of focal epilepsy.</div></div><div><h3>Methods</h3><div>A three-round modified Delphi procedure was conducted among a Delphi panel of 24 Chinese experts to build a consensus. A steering committee developed 9 statements related to SCBs for the treatment of focal epilepsy, and these statements were evaluated and voted upon by the expert panel.</div></div><div><h3>Results</h3><div>The expert panel achieved consensus on nine statements regarding the treatment recommendations for oxcarbazepine, lamotrigine, lacosamide, eslicarbazepine, topiramate, zonisamide and cenobamate in focal epilepsy patients and treatment adjustments for SCBs.</div></div><div><h3>Conclusion</h3><div>This is a Chinese expert consensus on the use of SCBs in focal epilepsy developed using the modified Delphi method. These recommendations can help clinicians in their practice and guide future research.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"127 ","pages":"Pages 105-114"},"PeriodicalIF":2.7,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143686248","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":"Establishing essential clinical data elements for efficient epilepsy care in time-limited settings","authors":"Yong Seo Koo ,&nbsp;Tae Young Kim ,&nbsp;Seo-Young Lee ,&nbsp;Woo-Jin Lee ,&nbsp;Hunmin Kim ,&nbsp;Young-Min Shon ,&nbsp;The Research committee of Korean Epilepsy Society","doi":"10.1016/j.seizure.2025.03.008","DOIUrl":"10.1016/j.seizure.2025.03.008","url":null,"abstract":"<div><h3>Purpose</h3><div>We aimed to develop a core set of common data elements (CDEs) for routine epilepsy care to enhance consistency and efficiency within time-limited clinical environments.</div></div><div><h3>Methods</h3><div>We employed a modified Delphi method involving epileptologists from university-affiliated hospitals. Participants rated the feasibility and importance of proposed CDEs over three survey rounds. The primary objective was to create feasible CDEs for EHR integration that capture essential clinical information during 5–10-minute consultations. Participant feedback guided iterative refinements, culminating in two templates: follow-up notes and initial/periodic evaluations.</div></div><div><h3>Results</h3><div>Of the 68 invited epileptologists, 61 (89.7 %) participated. In Round 1, consensus (≥67 % agreement) was achieved on 5 of 6 CDEs for follow-up notes and 22 of 28 for initial/periodic evaluations. After three rounds, consensus was reached on 6 follow-up note CDEs and 20 initial/periodic evaluation CDEs, including seizure frequency, date of last seizure, and medication changes. Most participants endorsed the necessity (98 %) of clinical CDEs and intended to implement them (97 %).</div></div><div><h3>Conclusion</h3><div>These core CDEs provide a practical, consensus-based framework for standardizing epilepsy care in South Korea under short consultation constraints. They can improve consistency and quality of care across institutions. Future initiatives will expand the CDEs to other patient subgroups, integrate patient-reported outcomes, and embed the templates in EHR systems for clinical and research applications.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"127 ","pages":"Pages 50-56"},"PeriodicalIF":2.7,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671530","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 volumetric analysis in Developmental and/or Epileptic Encephalopathy with Spike Wave Activation in Sleep (D/EE-SWAS): A cross-sectional study","authors":"Gautam Kamila ,&nbsp;Prashant Jauhari ,&nbsp;Atin Kumar ,&nbsp;Sonali Singh ,&nbsp;Biswaroop Chakrabarty ,&nbsp;Sheffali Gulati ,&nbsp;RM Pandey","doi":"10.1016/j.seizure.2025.03.006","DOIUrl":"10.1016/j.seizure.2025.03.006","url":null,"abstract":"<div><h3>Objectives</h3><div>This cross-sectional study compared the thalamic volume (TV) of children with Developmental and/or Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS) with age matched children with well-controlled epilepsy(WCE).</div></div><div><h3>Methods</h3><div>An unaided eye assessment of T1-weighted brain MRI sequences and quantitative volumetric analysis through “volBrain” online software was performed in children (5–12 years) with steroid-naïve D/EE-SWAS {spike-wave-index(SWI) in sleep≥50 %} and typically developing children with WCE (seizure-free period ≥1-year). The absolute and relative thalamic volume (ATV/RTV) (RTV: thalamic volume as percentage of the total intracranial volume), were compared between the two groups.</div></div><div><h3>Results</h3><div>Twenty-children each with D/EE-SWAS (14 boys; mean age: 8.05±1.76 years) and WCE (15 boys; mean age: 9.1 ± 1.74 years) were analysed. In the D/EE-SWAS group, (16/20) 80% of participants had a structural lesion while all the children in the WCE group had a presumed genetic etiology. Volumetric analysis detected low ATV (&lt;2 standard deviation) in 12/20 (60 %) children with D/EE-SWAS while unaided eye assessment could pick up thalamic involvement only in six (30 %). On comparison with WCE group (N = 20), mean ATV and RTV in structural D/EE-SWAS (<em>n</em> = 16) [(7.25 cm³ ± 1.66 versus 11.17 cm³ ± 1.22; <em>p</em> &lt; 0.0001)(0.73 % ± 0.17 versus 0.87 % ± 0.05; <em>p</em> &lt; 0.001)] and presumed genetic D/EE-SWAS (<em>n</em> = 4) [(9.25 cm³ ± 0.55, versus 11.17 cm³ ± 1.22, <em>p</em> &lt; 0.01)(0.74 % ± 0.04 versus 0.87 % ± 0.05; <em>p</em> &lt; 0.0001)] were significantly reduced. ATV did not correlate with SWI in sleep EEG (<em>r</em> =-0.25) in D/EE-SWAS.</div></div><div><h3>Conclusion</h3><div>Thalamic volume is reduced in majority of children with D/EE-SWAS in both structural and presumed genetic etiology.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"127 ","pages":"Pages 94-100"},"PeriodicalIF":2.7,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143686249","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}