Epilepsy and Behavior Reports最新文献

{"title":"Neuropsychiatric disorders in Chinese pediatric tuberous sclerosis complex patients associated with drug-resistant epilepsy: A TAND checklist-based survey","authors":"Jie Fu ,&nbsp;Qinrui Li ,&nbsp;Genfu Zhang ,&nbsp;Zhixian Yang ,&nbsp;Jiong Qin","doi":"10.1016/j.ebr.2025.100765","DOIUrl":"10.1016/j.ebr.2025.100765","url":null,"abstract":"<div><div>Tuberous sclerosis complex (TSC) is an autosomal-dominant genetic disorder frequently accompanied by neuropsychiatric disorders, especially in patients who have drug-resistant epilepsy (DRE). This study aimed to evaluate the distribution of neuropsychiatric disorders in Chinese children with TSC-related epilepsy using the TAND (Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders) checklist, comparing those with DRE to those achieving seizure freedom. A total of 47 children, aged 6 to 18 years, diagnosed with TSC at Peking University People’s Hospital, participated in this cross-sectional study.<!--> <!-->All participants met the latest diagnostic criteria for TSC. Based on the definition of drug-resistant epilepsy, participants were categorized into DRE group and seizure-free group. Neurodevelopmental disorders were evaluated using the TAND checklist. The study found that 66 % of participants exhibited varying degrees of intellectual disability, with the DRE group demonstrating significantly poorer performance in intelligence, behavior, neuropsychological, and learning skills compared to the seizure-free group. The DRE group also had higher rates of attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), alongside greater impairments in psychosocial functioning. This study indicates that DRE is strongly associated with neuropsychiatric development in children with TSC, but also that all children with TSC are at increased risk of TAND. Our findings highlight the importance of regular assessment and intervention to support TAND and improve quality of life in this vulnerable group.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"30 ","pages":"Article 100765"},"PeriodicalIF":1.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143783529","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparing the risk of subsequent ischemic stroke and mortality in patients with epilepsy and patients with ischemic stroke","authors":"Po-Yu Lin ,&nbsp;Sheng-Hsiang Lin ,&nbsp;Pi-Shan Sung","doi":"10.1016/j.ebr.2025.100766","DOIUrl":"10.1016/j.ebr.2025.100766","url":null,"abstract":"<div><div>Patients with stroke or epilepsy face an elevated risk of subsequent strokes. This nationwide retrospective cohort study analyzed data from Taiwan’s National Health Insurance Research Database (2012–2020) to compare the risk of future ischemic stroke or transient ischemic attack (IS/TIA) among patients with epilepsy and those with prior IS/TIA. Patients were categorized into four groups: epilepsy with subsequent IS/TIA (E/S), epilepsy without IS/TIA (E), IS/TIA without epilepsy (S), and neither condition (C). Incidence rates and adjusted hazard ratios for IS/TIA and mortality were assessed across groups, which included 5,606, 11,212, 11,212, and 56,060 patients. The corresponding incidence rates of subsequent IS/TIA were 0.67, 0.03, 0.41, and 0.01 per 100 person-years in the E/S, E, S, and C groups, respectively. Compared to the S group, the E/S group had a higher adjusted hazard ratio for IS/TIA (aHR 1.68, 95% CI: 1.30–2.17), whereas the E group had a significantly lower adjusted hazard ratio (aHR 0.08, 95% CI: 0.04–0.14). Mortality risk was significantly elevated in both the E/S group (aHR 1.90, 95% CI: 1.75–2.05) and the E group (aHR 1.21, 95% CI: 1.12–1.30), compared to the S group. These findings suggest that epilepsy increases the risk of subsequent IS/TIA, though to a lesser extent than prior IS/TIA. They underscore the importance of condition-specific prevention strategies and the need for further research into the mechanisms linking epilepsy and stroke risk.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"30 ","pages":"Article 100766"},"PeriodicalIF":1.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143815807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A functional seizure case in Wilson’s disease","authors":"Lucas D'Andrea,&nbsp;Raphael Mosqueira,&nbsp;Alcenor C. Miranda Filho,&nbsp;Renato L. Marchetti","doi":"10.1016/j.ebr.2025.100768","DOIUrl":"10.1016/j.ebr.2025.100768","url":null,"abstract":"<div><div>Wilson’s disease (WD) is a rare disorder characterized by abnormal copper metabolism, leading to its accumulation in various tissues, particularly the brain and the liver. Psychiatric and neurological symptoms are common manifestations of WD. We present a case of a 22-year-old woman diagnosed with WD who exhibited neurological symptoms and experienced functional seizures (FS) that were misdiagnosed as epilepsy secondary to WD for almost two years. The patient’s history of childhood trauma and interpersonal difficulties underscored the complex interplay between organic and psychogenic factors contributing to FS development. This case highlights the diagnostic challenges associated with the neuropsychiatric manifestations of Wilson’s disease, as well as the complexities in differentiating functional seizures from epilepsy. It emphasizes the importance of comprehensive assessment and multidisciplinary care in optimizing patient outcomes.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"30 ","pages":"Article 100768"},"PeriodicalIF":1.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143851671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic insights into progressive myoclonic epilepsies: A case study of KCTD7 mutation in an Iranian-Azeri-Turkish family","authors":"Haneieh Honarmand ,&nbsp;Mortaza Bonyadi ,&nbsp;Mohammad Barzegar","doi":"10.1016/j.ebr.2025.100757","DOIUrl":"10.1016/j.ebr.2025.100757","url":null,"abstract":"<div><div>Progressive Myoclonic Epilepsies (PMEs) are a rare and heterogeneous group of epileptic disorders often with progressive neurologic deterioration. The intensity of the clinical features varies depending on the underlying genetic etiology. This study aims to identify the genetic mutation associated with PME in a family belonging to the Iranian-Azeri-Turkish ethnic population. A 5-year-old boy and his 8-year-old sister, presenting with PME-related electroclinical features such as myoclonic seizures and progressive cognitive and motor decline, underwent comprehensive clinical evaluations, including pedigree analysis, laboratory tests, and EEG assessments, followed by Whole-Exome Sequencing (WES) to identify potential disease-causing mutations. We identified a novel homozygous mutation (c.14C &gt; T) in the <em>KCTD7</em> gene in both siblings, confirmed through Sanger sequencing. This mutation was not observed in a cohort of 430 healthy individuals from the same Iranian-Azeri-Turkish ethnic background, providing strong evidence for its pathogenic role. This finding advances our understanding of the genetic basis and phenotypic diversity of PMEs, but further research is needed to elucidate how <em>KCTD7</em> mutations contribute to epilepsy and neurodegeneration.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"30 ","pages":"Article 100757"},"PeriodicalIF":1.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143535103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enhancing seizure control in ultra-refractory postencephalitic epilepsies using multinodal network neuromodulation","authors":"Subhiksha Srinivasan ,&nbsp;Surya Suresh ,&nbsp;Ganne Chaitanya ,&nbsp;Manoj Saranathan ,&nbsp;Nitin Tandon ,&nbsp;Sandipan Pati","doi":"10.1016/j.ebr.2025.100755","DOIUrl":"10.1016/j.ebr.2025.100755","url":null,"abstract":"<div><div>This case series reports the formidable challenge posed by postencephalitic epilepsies, characterized by frequent drug-resistant seizures and neuropsychiatric and cognitive comorbidities. Polypharmacy is frequently required, and surgical resection may not be feasible due to multifocality. Neuromodulation therapies, including Deep Brain Stimulation (DBS) and Responsive Neurostimulation (RNS), offer a potential lifeline. In this case series, we shed light on the intricate landscape of seizure management and neuropsychiatric comorbidities in five individuals with frequent seizures (often weekly) and ultra-refractory epilepsy (defined as resistance to more than six different antiseizure medications, including failed epilepsy surgery) following catastrophic encephalitis. Four out of five patients achieved at least 50% reduction in seizure frequency following multimodal neuromodulation interventions. Moreover, we underscore the pivotal role of RNS electrocorticography (ECoG) in monitoring the epileptiform burden to guide therapy. Postencephalitic patients often present with a complex interplay of epileptic and nonepileptic (including neuropsychiatric) events, necessitating distinct therapeutic approaches. RNS ECoG emerges as a critical tool for differentiation and tailored therapy. While our findings highlight the potential effectiveness of neuromodulation in managing postencephalitic epilepsy, further research is needed to identify predictors of treatment response and explore the application of these therapies in chronic epilepsy caused by encephalitis. Overall, neuromodulation offers hope for improving these patients’ quality of life.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"30 ","pages":"Article 100755"},"PeriodicalIF":1.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549266","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Frequently asked questions and answers on Visually-Provoked (Photosensitive) epilepsy","authors":"Dorothée Kasteleijn-Nolst Trenité ,&nbsp;Jayant Acharya ,&nbsp;Fiona Mitchell Baumer ,&nbsp;Roy Beran ,&nbsp;Dana Craiu ,&nbsp;Jaqueline French ,&nbsp;Pasquale Parisi ,&nbsp;Jessica Solodar ,&nbsp;Jerzy P. Szaflarski ,&nbsp;Yukitoshi Takahashi ,&nbsp;Liu Lin Thio ,&nbsp;Ben Tolchin ,&nbsp;Arnold Wilkins ,&nbsp;Robert S. Fisher","doi":"10.1016/j.ebr.2025.100753","DOIUrl":"10.1016/j.ebr.2025.100753","url":null,"abstract":"<div><div>Clinical experts associated with national epilepsy-related societies, led by the Epilepsy Foundation, collected, collated and answered “Frequently asked questions (FAQ)” of broad interest pertaining to visually-provoked seizures. Questions emerged from people with epilepsy, caretakers and healthcare professionals from different countries around the world. Focus is on practical implications of visually-provoked seizures. The top 5 most frequently asked questions were.<ul><li><span>1.</span><span><div>How does a doctor make a diagnosis of visually-provoked seizures?</div></span></li><li><span>2.</span><span><div>What can I do in general to prevent visually-provoked seizures?</div></span></li><li><span>3.</span><span><div>Will I need antiseizure medications for my visually-provoked seizures?”</div></span></li><li><span>4.</span><span><div>Will I outgrow visually-provoked seizures? How will I know if I’ve outgrown them?</div></span></li><li><span>5.</span><span><div>How do I enable safety features to block content that could trigger seizures on social media, websites, phones, laptops and tablets?</div></span></li></ul>Answers were based on scientific evidence, where such information was available <span><span>[1]</span></span> and expert opinion when formal evidence was insufficient.<!--> <!-->Key answers included distinction of photoparoxysmal EEG findings versus light-provoked seizures. Typical provocation is by flashes at 10–25 per second or certain moving patterns. There is a genetic risk, which is outgrown in about half. Covering one or both eyes can prevent a light-provoked seizure. TV, videogames, virtual reality and 3D images are not in themselves provocative, but their content can be.</div><div>Topics covered included: 1. Photosensitive epilepsy diagnosis; 2. Preventing visually-provoked seizures; 3. Do treatments help; 4. Life and behavioral decisions; 5. School; 6. Multi-media; 7. Children and youth.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"30 ","pages":"Article 100753"},"PeriodicalIF":1.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143724533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful application of vagus nerve stimulation in super refractory status epilepticus associated with MERRF syndrome","authors":"Leyla Baysal ,&nbsp;Sabrina Jobi ,&nbsp;Simone Zimmermann ,&nbsp;Ann-Kristin Helmers ,&nbsp;Nils Gerd Margraf","doi":"10.1016/j.ebr.2025.100769","DOIUrl":"10.1016/j.ebr.2025.100769","url":null,"abstract":"<div><div>Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is a rare mitochondrial disorder marked by myoclonus, ataxia, cognitive impairment, myopathy, and sensorineural hearing loss. Seizures in MERRF syndrome are often resistant to standard antiseizure medication. We present a unique case of an adult patient with MERRF syndrome, caused by the m.8344A &gt; G point mutation, who developed super-refractory status epilepticus (SRSE), successfully managed by the initiation and rapid escalation of vagus nerve stimulation (VNS) therapy. Over a two-year follow-up period, the VNS therapy enabled a long-term control of generalized tonic-clonic seizures. A further status epilepticus has not yet occurred. VNS may therefore be a promising therapeutic option for managing SRSE in patients with mitochondrial epilepsy syndromes.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"30 ","pages":"Article 100769"},"PeriodicalIF":1.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143847441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Major depression, anxiety disorder and suicidality in epilepsy: What should neurologists do?","authors":"Andres M. Kanner","doi":"10.1016/j.ebr.2025.100758","DOIUrl":"10.1016/j.ebr.2025.100758","url":null,"abstract":"<div><div>Four to five patients with epilepsy (PWE) can suffer from Major Depressive episodes (MDE). Comorbid anxiety disorders (AD) frequently occur together with MDE. Failure to treat MDE can negatively affect several aspects of their life as well as the management of the epilepsy. Often, suicidal ideation is among its symptoms, which need to be addressed without delay to prevent suicidal attempts or a completed suicide. Unfortunately, access to health care professionals is very limited and, in many communities, non-existent. Accordingly, it falls upon the treating neurologist to begin a pharmacologic trial with psychotropic drugs. The purpose of this manuscript is to provide neurologists with very useful strategies on how to screen and identify MDEs with and without AD in the outpatient clinic and how to select the appropiate psychotropic drugs. Using an illustrative case, we discuss its differential diagnosis, particularly the recognition of iatrogenic episodes, and demonstrate the selection and mode of use of commonly used antidepressant in PWE. Finally, we provide a guide on how the neurologist can assess the suicidal risk of a patient that endorses suicidal ideation and the steps that need to be taken to minimize the risk of suicidal behavior.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"30 ","pages":"Article 100758"},"PeriodicalIF":1.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143594012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ictal cold shiver caused by autoimmune limbic encephalitis: A case report and literature review","authors":"Yosuke Takeuchi ,&nbsp;Teruaki Masuda ,&nbsp;Hiroyuki Matsuta ,&nbsp;Kenichi Yabuuchi ,&nbsp;Nobuhiro Hata ,&nbsp;Minoru Fujiki ,&nbsp;Konen Obayashi ,&nbsp;Etsuro Matsubara ,&nbsp;Noriyuki Kimura","doi":"10.1016/j.ebr.2025.100773","DOIUrl":"10.1016/j.ebr.2025.100773","url":null,"abstract":"<div><div>Ictal cold shiver is a rare manifestation of seizures that originate in the temporal lobes; it is characterized by body trembling and sensations of cold. This study aims to investigate the clinical manifestations and etiological factors in patients with ictal cold shiver. We reviewed 59 cases of ictal cold shiver by using various keywords to search published original articles and case reports, and we described a new case of autoimmune limbic encephalitis. The median age at diagnosis was higher in patients with autoimmune encephalitis than in those with other etiologies (p = 0.007). Autoimmune encephalitis showed more frequent bilateral temporal lobe abnormalities on magnetic resonance imaging (MRI) (p = 0.027) and generalized or bilateral independent epileptiform discharges on electroencephalography (EEG) (p = 0.047). Anti-leucine-rich glioma-inactivated 1 antibodies were most commonly detected in patients with autoimmune encephalitis with ictal cold shiver (85.7 %). This study highlights the importance of considering autoimmune mechanisms in the presence of ictal cold shiver, especially in patients with bilateral temporal lobe lesions on MRI, generalized or bilateral independent epileptiform discharges on EEG, and older onset.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"30 ","pages":"Article 100773"},"PeriodicalIF":1.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143870192","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of ultra-high field MRI and image processing in the presurgical workup in MRI-negative focal epilepsy: A validated 7T MRI case study","authors":"Daniel Uher ,&nbsp;Gerhard S. Drenthen ,&nbsp;Christianne M. Hoeberigs ,&nbsp;Rick H.G.J. van Lanen ,&nbsp;Albert J. Colon ,&nbsp;Roy A.M. Haast ,&nbsp;Vivianne H.J.M. van Kranen-Mastenbroek ,&nbsp;Guido Widman ,&nbsp;Paul A.M. Hofman ,&nbsp;Louis G. Wagner ,&nbsp;Jan C. Beckervordersandforth ,&nbsp;Jacobus F.A. Jansen ,&nbsp;Olaf E.M.G. Schijns ,&nbsp;Walter H. Backes ,&nbsp;on behalf of the ACE study group","doi":"10.1016/j.ebr.2025.100761","DOIUrl":"10.1016/j.ebr.2025.100761","url":null,"abstract":"<div><div>This case study demonstrates the value of combined 7 T structural and functional MRI in the presurgical workup of a 24-year-old male with drug-resistant focal epilepsy who was initially considered MRI-negative on clinical 3 T MRI. The patient underwent extensive presurgical workup with 7 T MRI, magnetoencephalography, stereo-electroencephalography, and resection of the suspected right frontal epileptogenic zone. Histopathology showed focal cortical dysplasia (FCD) type IIb. The patient remained 11 months after surgery seizure-free. Retrospective analysis revealed that both structural and functional 7 T MRI showed abnormalities within the resected area. Morphometric Analysis Program (MAP18) detected abnormalities on both 3 T and 7 T images. However, abnormalities were more conspicuous on 7 T. Resting-state functional MRI metrics, particularly regional homogeneity and fractional amplitude of low-frequency fluctuations, demonstrated significantly increased values in both a MAP18-defined region of interest and the entire resected area compared to a healthy control group (p &lt; 0.05). However, extensive unspecific abnormalities were also observed outside the resected region, highlighting the importance of a multimodal approach. This case study illustrates that advanced image processing of ultra-high field structural and resting-state functional MRI scans may enhance the detection of subtle epileptogenic lesions in presurgical evaluation, potentially improving post-operative seizure outcome and associated quality of life.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"30 ","pages":"Article 100761"},"PeriodicalIF":1.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143644703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}