Acta Epileptologica最新文献_第8页

Focal cortical dysplasia type II: review of neuropathological manifestations and pathogenetic mechanisms. 局灶性皮质发育不良II型：神经病理表现和发病机制的综述。

IF 1.2

Acta Epileptologica Pub Date : 2025-02-17 DOI: 10.1186/s42494-024-00195-y

Yubao Fang, Yaqian Zhang, Tiancai Huang, Shengyu Yang, Yinchao Li, Liemin Zhou

{"title":"Focal cortical dysplasia type II: review of neuropathological manifestations and pathogenetic mechanisms.","authors":"Yubao Fang, Yaqian Zhang, Tiancai Huang, Shengyu Yang, Yinchao Li, Liemin Zhou","doi":"10.1186/s42494-024-00195-y","DOIUrl":"https://doi.org/10.1186/s42494-024-00195-y","url":null,"abstract":"Focal cortical dysplasia (FCD) is an important cause of intractable epilepsy, with FCD type II (FCD II) being the most common subtype. FCD II is characterized by cortical dyslamination accompanied by dysmorphic neurons (DNs). Identifying the molecular alterations and targetable biomarkers is pivotal for developing therapies. Here, we provide a detailed description of the neuropathological manifestations of FCD II, including morphological alterations and immunophenotypic profiles, indicating that abnormal cells exhibit a diverse spectrum of mixed differentiation states. Furthermore, we summarize current research on the pathogenetic mechanisms, indicating that gene mutations, epigenetic alterations, cortical developmental protein disturbances, inflammatory processes, and extrinsic damages may lead to abnormal neuronal proliferation and migration, thereby contributing to the emergence and progression of FCD II. These findings not only enhance our understanding of the pathogenesis of FCD II but also offer new directions for clinical diagnosis and treatment. Future research should further explore the interactions among these factors and employ multidisciplinary approaches to advance our understanding of FCD II.","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"12"},"PeriodicalIF":1.2,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960379/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143999515","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}

引用次数: 0

Vagus nerve stimulation combined with nerve rehabilitation therapy for upper limb paralysis after hemorrhagic stroke: a stroke-related epilepsy case. 迷走神经刺激联合神经康复治疗出血性卒中后上肢瘫痪1例卒中相关性癫痫。

IF 1.2

Acta Epileptologica Pub Date : 2025-02-15 DOI: 10.1186/s42494-024-00198-9

Chunsheng Xia, Peng Xu, Lanlan Wang, Dong Zhang, Yinbao Qi, Ming Wu, Ruobing Qian

{"title":"Vagus nerve stimulation combined with nerve rehabilitation therapy for upper limb paralysis after hemorrhagic stroke: a stroke-related epilepsy case.","authors":"Chunsheng Xia, Peng Xu, Lanlan Wang, Dong Zhang, Yinbao Qi, Ming Wu, Ruobing Qian","doi":"10.1186/s42494-024-00198-9","DOIUrl":"https://doi.org/10.1186/s42494-024-00198-9","url":null,"abstract":"Background: Hemorrhagic stroke has a high incidence, often leaving patients with significant complications such as limb mobility disorders after treatment. Traditional treatment methods for stroke patients mainly include limb function exercises and hyperbaric oxygen therapy, which have shown effective results. In recent years, there have been reports utilizing vagus nerve stimulation (VNS) to treat limb paralysis in ischemic stroke patients, achieving encouraging outcomes. However, there are rare related reports on hemorrhagic stroke.Case presentation: This report presents a case of a patient who developed left upper limb hemiplegia and recurrent seizures after a hemorrhagic stroke. The patient showed a poor response to standard anti-epileptic treatment and was diagnosed with stroke-related epilepsy. To manage the recurrent seizures, VNS was performed. After the device was activated, the patient reported a significant reduction in abnormal muscle tone and increased mobility impairment in the affected upper limb. Parameters were adjusted, and intermittent stroke electrical stimulation was combined with upper limb rehabilitation exercises. After three months of active treatment, the patient's seizures were well controlled, and there was significant improvement in upper limb function.Conclusions: VNS has potential in the rehabilitative treatment of stroke patients with upper limb dysfunction. It is hoped that more patients will benefit from this advanced treatment method in the future, regaining their health and vitality. Additionally, future research needs to further explore the mechanisms and methods of brain remodeling to provide theoretical support and more effective treatment options for stroke patient rehabilitation.","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"8"},"PeriodicalIF":1.2,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960275/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144030469","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}

引用次数: 0

Exploring physiological beta-hydroxybutyrate level in children treated with the classical ketogenic diet for drug-resistant epilepsy. 探讨经典生酮饮食治疗耐药癫痫儿童的生理β -羟基丁酸水平。

IF 1.2

Acta Epileptologica Pub Date : 2025-02-07 DOI: 10.1186/s42494-024-00199-8

Xiaoying Qiao, Zimeng Ye, Jialun Wen, Sufang Lin, Dezhi Cao, Li Chen, Dongfang Zou, Huafang Zou, Man Zhang, Zhibin Chen, Patrick Kwan, Ingrid E Scheffer, Jiong Qin, Jianxiang Liao

{"title":"Exploring physiological beta-hydroxybutyrate level in children treated with the classical ketogenic diet for drug-resistant epilepsy.","authors":"Xiaoying Qiao, Zimeng Ye, Jialun Wen, Sufang Lin, Dezhi Cao, Li Chen, Dongfang Zou, Huafang Zou, Man Zhang, Zhibin Chen, Patrick Kwan, Ingrid E Scheffer, Jiong Qin, Jianxiang Liao","doi":"10.1186/s42494-024-00199-8","DOIUrl":"https://doi.org/10.1186/s42494-024-00199-8","url":null,"abstract":"Background: The ketogenic diet (KD) therapy is a primary treatment for drug-resistant epilepsy, and beta-hydroxybutyrate (BHB) is the main ketone produced during KD. However, the pattern of increase in BHB levels is not well understood, and the reference range for BHB need to be defined. The aim of this study was to evaluate the BHB levels in the first three months, especially one week, after KD initiation, and to explore the physiological reference range for BHB.Methods: In our study, a fasting initiation strategy was used for the majority of patients (252/300, 84%) who underwent fasting for 24-48 h, the rest fasted for at least 12 h. The concentration of blood BHB was measured four times a day during the first week, at one month and three months. Seizure frequency was recorded at one week, one month and three months. Responders were defined as those with a seizure reduction 50% or more compared to baseline. BHB levels were compared between responders and non-responders. The BHB levels of responders were used to calculate the reference range.Results: A total of 300 patients were recruited, of whom 172 (57%) had accessible BHB data. BHB levels rapidly rose to 2.0 mmol/L at 19 h, peaked at 4.2 mmol/L at 43 h of therapy, and stabilized by three months. The reference range for BHB was 1.1 to 4.9 mmol/L.Conclusions: BHB levels increased rapidly following fasting, reaching the peak at day 2, stabilizing from the end of the first week through three months. The lower reference limit for BHB to ensure KD efficacy should be set at 1.1 mmol/L.","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"10"},"PeriodicalIF":1.2,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144013848","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}

引用次数: 0

Advances in genetic developmental and epileptic encephalopathies with movement disorders. 遗传性发育性和癫痫性脑病伴运动障碍的研究进展。

IF 1.2

Acta Epileptologica Pub Date : 2025-02-03 DOI: 10.1186/s42494-024-00194-z

Meng Yuan, Xiaoqian Wang, Zuozhen Yang, Huan Luo, Jing Gan, Rong Luo

引用次数: 0

Identification of a pathogenic NHLRC1 variant in a consanguineous Pakistani family affected with severe and rapidly progressive Lafora disease. 在巴基斯坦一个患有严重和迅速进展的拉福拉病的近亲家庭中鉴定一种致病性NHLRC1变异。

IF 1.2

Acta Epileptologica Pub Date : 2025-01-17 DOI: 10.1186/s42494-024-00193-0

Zain Aslam, Bibi Zubaida, Ranjha Khan, Mazhar Badshah, Muhammad Naeem

{"title":"Identification of a pathogenic NHLRC1 variant in a consanguineous Pakistani family affected with severe and rapidly progressive Lafora disease.","authors":"Zain Aslam, Bibi Zubaida, Ranjha Khan, Mazhar Badshah, Muhammad Naeem","doi":"10.1186/s42494-024-00193-0","DOIUrl":"https://doi.org/10.1186/s42494-024-00193-0","url":null,"abstract":"Background: Autosomal recessively inherited progressive myoclonic epilepsy of Lafora, which is also known as Lafora disease, is a fatal neurodegenerative disorder. It affects individuals in late childhood or early adolescence and presents with symptoms of progressive mental and physical deterioration. This disease is caused by pathogenic genetic variants in either of two genes: EPM2A on chromosome 6q24, encoding laforin, or NHLRC1 (EPM2B) on chromosome 6p22, encoding malin.Case presentation: In this study, we report a clinical and molecular investigation of Lafora disease segregating in a consanguineous Pakistani family. The proband presented with symptoms of rapidly progressive myoclonic epilepsy, but laboratory studies were negative for Lafora bodies and ragged red fibres. Sanger DNA sequencing of the genomic DNA of the proband for EPM2A and NHLRC1 identified a previously reported pathogenic nonsense variant in NHLRC1 (NM_198586.3:c.793C > T), which encodes the E3 ubiquitin ligase called malin. The NHLRC1 variant was found in a homozygous state in the proband, predicting a premature stop codon at position 265 (NP_940988.2:p.Arg265Ter). If the mRNA escaped nonsense-mediated decay, it would result in a truncated protein lacking 130 amino acids, including three NHL (NCL-1, HT2A, LIN-41) repeats.Conclusions: Our study emphasizes the role of molecular genetic testing in patients presenting with symptoms of progressive myoclonic epilepsy.","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"7"},"PeriodicalIF":1.2,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960279/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144037896","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}

引用次数: 0

Using electronic medical records to analyze outpatient visits of persons with epilepsy during the pandemic-experience from a low middle income country. 利用电子病历分析大流行期间癫痫患者的门诊就诊情况——来自中低收入国家的经验。

IF 1.2

Acta Epileptologica Pub Date : 2025-01-15 DOI: 10.1186/s42494-024-00192-1

Rajeswari Aghoram, Pradeep P Nair, Anudeep Neelagandan

{"title":"Using electronic medical records to analyze outpatient visits of persons with epilepsy during the pandemic-experience from a low middle income country.","authors":"Rajeswari Aghoram, Pradeep P Nair, Anudeep Neelagandan","doi":"10.1186/s42494-024-00192-1","DOIUrl":"https://doi.org/10.1186/s42494-024-00192-1","url":null,"abstract":"Background: Electronic medical records (EMR) can be utilized to understand the impact of the disruption in care provision caused by the pandemic. We aimed to develop and validate an algorithm to identify persons with epilepsy (PWE) from our EMR and to use it to explore the effect of the pandemic on outpatient service utilization.Methods: EMRs from the neurology specialty, covering the period from January 2018 to December 2023, were used. An algorithm was developed using an iterative approach to identify PWE with a critical lower bound of 0.91 for negative predictive value. Manual internal validation was performed. Outpatient visit data were extracted and modeled as a time series using the autoregressive integrated moving average model. All statistical analyses were performed using STATA version 14.2 (Statacorp, USA).Results: Four iterations resulted in an algorithm, with a negative predictive value 0.98 (95% CI: 0.95-0.99), positive predictive value of 0.98 (95% CI: 0.85-0.99), and an F-score accuracy of 0.96, which identified 4474 PWE. The outpatient service utilization was abruptly reduced by the pandemic, with a change of -902.1 (95%CI: -936.55 to -867.70), and the recovery has also been slow, with a decrease of -5.51(95%CI: -7.00 to -4.02). Model predictions aligned closely with actual visits with median error of -3.5%.Conclusions: We developed an algorithm for identifying people with epilepsy with good accuracy. Similar methods can be adapted for use in other resource-limited settings and for other diseases. The COVID pandemic appears to have caused a lasting reduction of service utilization among PWE.","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"6"},"PeriodicalIF":1.2,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960259/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043900","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}

引用次数: 0

Nedl1 knockout ameliorates cognitive impairment and improves epilepsy threshold in pilocarpine-induced epileptic mice. 敲除nel1可改善匹罗卡品诱导的癫痫小鼠的认知障碍和癫痫阈值。

IF 1.2

Acta Epileptologica Pub Date : 2025-01-13 DOI: 10.1186/s42494-024-00186-z

Qian Lu, Mengjia Liu, Shufang Guo, Yangyang Wang, Liping Zou

{"title":"Nedl1 knockout ameliorates cognitive impairment and improves epilepsy threshold in pilocarpine-induced epileptic mice.","authors":"Qian Lu, Mengjia Liu, Shufang Guo, Yangyang Wang, Liping Zou","doi":"10.1186/s42494-024-00186-z","DOIUrl":"https://doi.org/10.1186/s42494-024-00186-z","url":null,"abstract":"Background: Epilepsy is a common neurological disorder. The homologous to E6-AP carboxy terminus (HECT) E3 ligase is associated with epilepsy. NEDD4-like ubiquitin protein ligase-1 (NEDL1) is a HECT E3 ligase that is highly expressed in the brain. This study aimed to investigate the involvement of NEDL1 in epilepsy and the potential effect of NEDL1 on the cognitive ability.Methods: The pilocarpine-induced epileptic mouse model was used to assess cognitive functions in Barnes maze, the pathological changes, and the activation of astrocytes and microglia in wild-type (Nedl1+/+) and Nedl1 knockout (Nedl1-/-) mice. The RNA-seq method was used to analyze differentially expressed genes and explore the brain pathophysiology after epilepsy development.Results: Nedl1 knockout resulted in a protective effect against epilepsy. The Nedl1-/- mice showed improved spatial learning and memory, alleviation of pathological damage in the hippocampus induced by epilepsy, and reduced microglial activation in the hippocampus. Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis of differentially expressed genes also revealed several prominently enriched T-cell-related pathways.Conclusions: Nedl1 knockout reduces seizures and alleviates neuroinflammation. The potential functional link between NEDL1 and epilepsy provides a new approach to the treatment and intervention of epilepsy.","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"5"},"PeriodicalIF":1.2,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960318/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052510","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}

引用次数: 0

Potential inflammatory mechanisms of the ketogenic diet against febrile infection-related epilepsy syndrome. 生酮饮食对热性感染相关癫痫综合征的潜在炎症机制。

IF 1.2

Acta Epileptologica Pub Date : 2025-01-10 DOI: 10.1186/s42494-024-00187-y

Juan Wang, Lingling Xie, Li Jiang

引用次数: 0

Fasciola cinereum: a novel choke point for epilepsy treatment. 电影片形吸虫：癫痫治疗的新瓶颈。

IF 1.2

Acta Epileptologica Pub Date : 2025-01-08 DOI: 10.1186/s42494-024-00182-3

Lilong Yu, Dongxiao Jiang, Yi Wang, Zhong Chen, Lin Yang

引用次数: 0

Role of childhood trauma in psychogenic non-epileptic seizures: a report from China. 儿童创伤在心因性非癫痫性发作中的作用：一份来自中国的报告。

IF 1.2

Acta Epileptologica Pub Date : 2025-01-06 DOI: 10.1186/s42494-024-00180-5

Xin Tong, Rong Luo, Xiao Hu, Dong Zhou, Dongmei An

{"title":"Role of childhood trauma in psychogenic non-epileptic seizures: a report from China.","authors":"Xin Tong, Rong Luo, Xiao Hu, Dong Zhou, Dongmei An","doi":"10.1186/s42494-024-00180-5","DOIUrl":"https://doi.org/10.1186/s42494-024-00180-5","url":null,"abstract":"Background: To investigate the prevalence, risk factors, and impacts of childhood trauma in Chinese patients with psychogenic non-epileptic seizures (PNES) compared to the healthy population.Methods: Patients with PNES and sex- and age-matched healthy controls were recruited. All the participants were interviewed to collect demographics, information of childhood environment, and clinical characteristics. Each participant completed the Childhood Trauma Questionnaire-Short Form (CTQ-SF), the Dissociative Experiences Scale (DES), and the Symptom Checklist-90 (SCL-90). Factors associated with childhood trauma, psychiatric symptoms, and clinical features of PNES were analyzed.Results: A total of 35 PNES patients and 34 controls were included in this study. Compared with the controls, the PNES patients reported a higher rate of childhood trauma and more severe psychiatric symptoms. In the PNES patients, early separation from parents was related to more types of childhood trauma and emotional neglect (EN); older age and rural residence during childhood were related to sexual abuse (SA). Moreover, childhood SA and trauma accumulation were correlated with the present psychiatric symptoms. Childhood trauma and rural residence were associated with dissociative symptoms. Separation from parents predicted an earlier PNES onset, whereas childhood SA predicted a later onset. More severe dissociative symptoms were associated with higher seizure frequency.Conclusions: Childhood trauma is related to the development of PNES and the compromised mental health in PNES patients. This highlights the importance of child protection for preventing psychiatric disorders such as PNES.","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"4"},"PeriodicalIF":1.2,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960396/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144040125","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}

引用次数: 0