Epileptic Disorders最新文献

{"title":"TUBA1A-related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures.","authors":"Andy Cheuk-Him Ng, Morris H Scantlebury","doi":"10.1002/epd2.70072","DOIUrl":"https://doi.org/10.1002/epd2.70072","url":null,"abstract":"<p><p>Patients with TUBA1A pathogenic variants may present with complex brain malformation, intellectual disability, and epilepsy. The epilepsy phenotype is varied, ranging from mild to severe, with epileptic spasms and focal seizures being the most common seizure types. We report on an infant with a TUBA1A variant presenting with an evolving epileptic encephalopathy. Initially, this patient presented with infantile epileptic spasms syndrome, with the eventual appearance of atypical absence seizures before the age of 1 year. We discuss the initial diagnostic uncertainty that was raised by the finding of early onset absence epilepsy and review the other TUBA1A-related seizure types reported in the literature.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144745795","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}

{"title":"Electroencephalography and polysomnography as predictors of long-term functional outcomes in anti-CASPR2 encephalitis: A multicenter cohort study.","authors":"Xinbo Zhang, Yuwen Gao, Gengyao Hu, Shuyi Qu, Wenhao Wen, Yanbing Han, Xiaohua Hou, Zaifen Gao, Xiaoli Wang, Chenwei Li, Lei Yang, Xinyu Wen, Kaomin Lin, Junxiang Bao, Yonghong Liu","doi":"10.1002/epd2.70067","DOIUrl":"https://doi.org/10.1002/epd2.70067","url":null,"abstract":"<p><strong>Objective: </strong>The clinical manifestations of autoimmune encephalitis associated with contactin-associated protein-like 2 (CASPR2) were atypical and progressed slowly. We aimed to summarize the characteristics of video-electroencephalography (V-EEG) and video-polysomnography (V-PSG) to achieve early recognition and assess long-term outcomes.</p><p><strong>Methods: </strong>27 patients with anti-CASPR2 encephalitis were enrolled from four tertiary hospitals in China (2018-2022). All patients underwent 24-h V-EEG monitoring, and seven of them received additional overnight V-PSG recording. We retrospectively analyzed the clinical and electrophysiological features, sleep features, treatments, prognostic factors, and clinical outcomes of these patients. The Clinical Assessment Scale in Autoimmune Encephalitis (CASE) was used to assess the initial severity and long-term prognosis.</p><p><strong>Results: </strong>There were 8 children and 19 adults enrolled, including 11 males and 16 females, respectively. 20 (74.1%) of them suffered from infrequent epileptic seizures, with ten having seizures at initial presentation and five experiencing status epilepticus. In addition to seizures, some developed psychiatric symptoms (14/27), sleep disorders (8/27), and Morvan syndrome (7/27). Twenty-three (23/27) patients presented notable EEG abnormalities, including diffuse slow-wave activities (DSWA, 7/23), intermittent slow-wave activity (12/23), interictal focal/generalized spikes and spike-and-slow-wave complexes (7/23). Median duration of follow-up was 40 months (range: 12-78 months). Compared to those with normal background, patients with DSWA had worse clinical outcomes (CASE ≥10, χ² = 10.188, p = .005). The patients with poor prognosis in the study showed sleep fragmentation, reduced nonrapid eye movement stage 3 (N3), and rapid eye movement stage (REM). Three patients (3/7) exhibited complete absence of N3 sleep, which was linked to a negative prognosis.</p><p><strong>Significance: </strong>Slow-wave activities involving the frontal and temporal lobes, as well as reduced N3 and REM sleep, are commonly observed in patients with anti-CASPR2 encephalitis. DSWA and the absence of N3 sleep may serve as predictors of a worse prognosis in anti-CASPR2 encephalitis.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144715166","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}

{"title":"Ictal semiology in anterior cingulate epilepsy: A systematic review.","authors":"Francine Chassoux, Eve Sallèles, Yohan Caudron, Adrien Zanin, Agathe Laurent, Dorottya Cserpan, Georgia Ramantani","doi":"10.1002/epd2.70066","DOIUrl":"https://doi.org/10.1002/epd2.70066","url":null,"abstract":"<p><p>Seizures originating from the anterior cingulate cortex (ACC) have distinct clinical features but can be difficult to identify in frontal lobe epilepsy (FLE). This systematic review examines the key semiology of ACC seizures and their anatomical correlations. A systematic search was conducted following PRISMA guidelines, including studies reporting ictal semiology, invasive EEG findings, and surgical outcomes in patients with ACC seizures, allowing for the establishment of anatomical and clinical correlations with a high level of confidence. Studies based only on stimulations were excluded. We selected 23 studies including 93 patients (57% males, 46% children). MRI positive (59%), invasive monitoring (74%), surgery (100%) with Engel class I outcome (80%) were the main characteristics. Cortical lesions were found by histology in 86% of the surgical specimen, including focal cortical dysplasia in 67%. The level of confidence in epileptogenic zone (EZ) localization was considered high and very high in 87% of patients. Auras reported by 58% of them mostly included affective (fear or negative emotional feelings) and/or autonomic symptoms (80%). The main ictal signs consisted of facial emotional expressions (46%), autonomic features (48%), vocalization and sudden complex/hypermotor behavior (60%). Spectacular manifestations with preserved awareness, verbalizations with emotional content, laughter, ictal pouting (\"chapeau de gendarme\") can also point to ACC involvement. In contrast, dystonic/tonic-clonic features, head and eye deviations were less frequently observed (<20%). Loss of consciousness was reported in 35% of patients. Immediate recovery at the seizure-end was usual. Short seizures (<1 min) occurring in clusters during sleep were also characteristics. Combination of these features enhanced the likelihood of ACC origin. Interictal personality disorders which improved after seizure control can be also observed. ACC seizures are predominantly characterized by emotional, autonomic, and striking behavior manifestations contrasting with preserved awareness. These semiology markers support an anatomical and clinical entity and help to localize the EZ in FLE.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144709724","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}

{"title":"Targeted multinodal thalamic deep brain stimulation for epilepsy: A retrospective case series.","authors":"Roger Chang, Brandon Reid, Paul McGeoch, Zoe Lusk, Kevin Graber, Robert Fisher, Josef Parvizi, Vivek Buch","doi":"10.1002/epd2.70070","DOIUrl":"https://doi.org/10.1002/epd2.70070","url":null,"abstract":"<p><strong>Objective: </strong>Emerging literature suggests that multi-lead thalamic DBS may be safe and therapeutically beneficial to patients with diffuse or poorly defined epileptic networks; however, more studies are needed to support such off-label methods. Here, in a single-center retrospective, non-controlled observational pilot study, we investigated the off-label use of a multinodal thalamic DBS system in patients with medically refractory and poorly localized epilepsies.</p><p><strong>Methods: </strong>Utilizing either a robotic or frame-based technique, we implanted four DBS leads (Boston Scientific, Marlborough, MA) into either bilateral (1) ANT and CM (n = 6 patients) or (2) ANT and PLV (n = 4 patients). In five patients, only bilateral ANT (n = 2) or CM (n = 3) stimulations were applied while in five other patients, bilateral ANT was supplemented with bilateral CM (n = 1) or PLV (n = 4) DBS. The thalamic targets were personalized in each patient based on available clinical or intracranial multi-site thalamic stereoencephalography or scalp EEG evidence. Primary outcomes were intraoperative and postoperative complications as well as changes in seizure frequency.</p><p><strong>Results: </strong>DBS implantation was well tolerated with no intraoperative complications. Only one patient had a post-operative wound-related complication. Average follow-up was 12.4 months (range 3-21 months). Most patients (nine out of 10 patients) experienced a clinically noticeable reduction in seizure frequency, including a subset (two out of 10 patients) who were seizure free. Efficacy was similar in the two-lead and four-lead stimulation groups.</p><p><strong>Significance: </strong>This cohort provides early and preliminary data documenting the feasibility and safety (and clinical utility) of targeted multinodal thalamic DBS for medically refractory, poorly localized epilepsy. As this was not a controlled outcomes study, the clinical efficacy data must be interpreted cautiously. Our findings may motivate larger controlled studies to rigorously evaluate the clinical efficacy of personalized optimization of multinodal configuration in patients with diffuse or poorly defined epileptic networks.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144700230","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}

{"title":"Novel ADGRV1 pathogenic variant associated to sleep-related hypermotor epilepsy.","authors":"Angelo Russo, Silvia Lelli, Carlo Alberto Cesaroni, Laura Landolina, Serena Mazzone, Laura Licchetta, Duccio Maria Cordelli, Francesca Bisulli","doi":"10.1002/epd2.70069","DOIUrl":"https://doi.org/10.1002/epd2.70069","url":null,"abstract":"<p><p>Sleep-related hypermotor epilepsy is characterized by complex seizures predominantly during sleep, marked by hyperkinetic movements and/or asymmetric tonic/dystonic posturing. The etiology often remains unknown, but when identified it is attributed to genetic and/or structural factors, implicating genes such as CHRNA4, CHRNB2, CHRNA2, KCNT1, and DEPDC5. ADGRV1 pathogenic variants are associated with an autosomal recessive form IIC of Usher syndrome and several epilepsy types, including generalized auditory-induced seizures, focal epilepsy, genetic generalized epilepsy, and epileptic encephalopathy. An association between SHE and ADGRV1 gene has never been described. Here we describe a pediatric patient with SHE harboring a de novo heterozygous pathogenic variant on the ADGRV1 gene (c.14165A>G; p.Glu4722Gly). Our findings prompt discussion about the potential phenotype expansion associated with this ADGRV1 variant and its pathogenic link with SHE.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144651115","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}

{"title":"Hidden inside the sulci: Utility of voxel-based morphometric analysis program in localizing precuneus epilepsy.","authors":"Patrick Hartnett, Rithvik Gundlapalli, Shayan Moosa, Ifrah Zawar","doi":"10.1002/epd2.70062","DOIUrl":"10.1002/epd2.70062","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12266640/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144638601","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}

{"title":"Perioral myoclonias as a unique manifestation of adult-onset frontal lobe epilepsy.","authors":"Ana Aldaz Burgoa, Lucía López Trashorras, Nicolás Rodríguez Albacete, Irene García Morales, Pablo Mayo Rodríguez","doi":"10.1002/epd2.70068","DOIUrl":"https://doi.org/10.1002/epd2.70068","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144638602","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}

{"title":"Barriers, attitudes, and perceptions regarding epilepsy surgery among patients in rural Thailand: A multicenter study.","authors":"Kanitpong Phabphal, Tabtim Chongsuvivatwong, Arpiwat Soontornpun, Pichai Rochanapithayakorn, Arkhom Arayawichanont, Thuspaween Wasiwat, Arpart Nakao","doi":"10.1002/epd2.70073","DOIUrl":"https://doi.org/10.1002/epd2.70073","url":null,"abstract":"<p><strong>Objective: </strong>Strong evidence supports epilepsy surgery as a safe and effective treatment option for a subset of patients with drug-resistant epilepsy. However, multiple factors, including patient factors, contribute to the underutilization of this treatment. Hence, we conducted this multicenter study to explore the attitudes and barriers to epilepsy surgery in Thailand.</p><p><strong>Methods: </strong>A 40-item self-administered questionnaire was administered to consecutive adults with drug-resistant epilepsy treated in neurology clinics at seven centers in Thailand. The questionnaire was divided into five sections: (1) general demographic data and epilepsy; (2) knowledge of epilepsy surgery; (3) perception of risks of surgery and ongoing seizures; (4) perception and belief regarding barriers in the health insurance system to epilepsy management, including epilepsy surgery; and (5) possible barriers affecting the decision to undergo surgery. A composite score of the responses to each of the 10 questions representing \"barriers to epilepsy surgery\" was calculated to assess the factors associated with attitudes toward surgery.</p><p><strong>Results: </strong>A total of 456 consecutive patients with drug-resistant epilepsy completed the questionnaire (response rate: 98.1%). Notably, 79% of participants with drug-resistant epilepsy were unaware of epilepsy surgery as a treatment option, with 60% tending to overinterpret surgical risks. Almost all patients (86%) either strongly or somewhat agreed with the statement, \"brain surgery should be considered a last resort.\" Education level, current employment status, and net income were associated with barriers to epilepsy surgery.</p><p><strong>Significance: </strong>The findings of this study may help to identify knowledge gaps to improve information strategies.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144621083","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}

{"title":"Somatosensory evoked potentials in patients with typical absences.","authors":"Merve Asikovali, Reyhan Surmeli, Ayse Destina Yalcin","doi":"10.1002/epd2.70059","DOIUrl":"https://doi.org/10.1002/epd2.70059","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to compare somatosensory evoked potentials (SEPs) in patients with typical absence seizures to healthy controls to elucidate the pathogenesis of absence seizures. We also evaluated potential differences in SEPs based on anti-seizure medication use and seizure type (absence only vs. absence plus generalized tonic-clonic (GTC) seizures).</p><p><strong>Methods: </strong>SEPs were recorded in 20 patients with typical absence epilepsy and 20 age- and gender-matched healthy controls. Latencies and amplitudes of the P25, N20, P25-N35, and N20-P25 components were measured bilaterally and compared between the groups. Subgroup analyses based on medication and seizure type were also performed.</p><p><strong>Results: </strong>Patients with typical absence epilepsy had significantly higher amplitudes of the bilateral P25-N35 and N20-P25 components compared to controls (p < .05). No significant differences were found in P25 and N20 latencies between the groups. There were no significant differences in SEP parameters based on different medication use or the presence of generalized tonic-clonic seizures in patients.</p><p><strong>Significance: </strong>The increased amplitudes of cortical (N20-P25) and subcortical (P25-N35) SEP components in patients with typical absence epilepsy suggest hyperexcitability of the somatosensory cortex and probably the thalamus. These findings support the involvement of thalamocortical networks in the pathogenesis of absence seizures. The lack of influence of medication on SEP amplitudes indicates these changes may reflect an underlying structural or metabolic abnormality rather than a transient state. Further studies are needed to clarify the mechanisms of absence epileptogenesis.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144602108","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}

{"title":"What is the right choice? Is the answer sodium channel blockers?","authors":"Sarı Yanartas Mehpare, Donbaloglu Furkan, Genc Şakir, Acik Sait, Yayici Koken Özlem, Haspolat Şenay","doi":"10.1002/epd2.70063","DOIUrl":"https://doi.org/10.1002/epd2.70063","url":null,"abstract":"<p><strong>Objectives: </strong>Self-limited infantile epilepsy (SeLIE) is one of the most common epileptic syndromes encountered in infancy. The rapid control of seizures and determining the etiology will help the clinician and the family. Care providers need to be aware of the implications, etiology, and management. In our study, the aim is to evaluate the characteristics and response to treatment in children with SeLIE and to raise awareness about early diagnosis and treatment options.</p><p><strong>Methods: </strong>A total of 72 infants and children diagnosed with SeLIE were retrospectively analyzed to evaluate their clinical and prognostic data.</p><p><strong>Results: </strong>The average age at the time of diagnosis of patients was 7.6 ± 4 months, and the onset of seizures was 7 ± 3.7 months, and 54.1% were boys in the study group. Of the patients with normal neurodevelopmental steps, 38 (52.7%) had focal elementary motor seizures, 17 (23.6%) had focal impaired consciousness seizures with observable manifestation, 16 (22.2%) had bilateral tonic-clonic seizures of unknown onset, and 1 had focal to bilateral tonic-clonic seizure initially. The most common anti-seizure medication chosen as the first-line treatment was levetiracetam in our study cohort, but the highest seizure-free rate was achieved by initiating carbamazepine.</p><p><strong>Significance: </strong>If focal seizures occur in clusters in an afebrile infant with normal neuromotor development and normal neuroimaging, SeLIE should be considered as a possible diagnosis. Sodium channel blockers, with shown high treatment success, should be considered as the first-line medication for favorable outcomes in SeLIE.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144576861","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}