Acta Epileptologica最新文献

{"title":"Potential inflammatory mechanisms of the ketogenic diet against febrile infection-related epilepsy syndrome.","authors":"Juan Wang, Lingling Xie, Li Jiang","doi":"10.1186/s42494-024-00187-y","DOIUrl":"https://doi.org/10.1186/s42494-024-00187-y","url":null,"abstract":"<p><p>Febrile infection-related epilepsy syndrome (FIRES) is a rare epilepsy syndrome with unclear pathogenesis, characterized by fever-induced, super-refractory status epilepticus and high mortality. Studies have shown that ketogenic diet (KD) is effective in controlling convulsions in FIRES, but its mechanisms are unclear. This paper intends to summarize the mechanisms by which KD may exert effects against FIRES. Clinical studies have shown that patients with FIRES have elevated levels of various inflammatory factors such as interleukin (IL)-6, IL-8, IL-10, and so on. KD may exert anti-FIRES effects through several potential inflammatory pathways, including nuclear factor -κB (NF-κB) and NLR family pyrin domain containing 3 (NLRP3). Furthermore, the Kyoto Encyclopedia of Genes and Genomes (KEGG) network suggested that KD may play an anti-inflammatory role through several pathways such as cellular senescence and neutrophil extracellular trap formation. These mechanisms need to be further investigated.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"3"},"PeriodicalIF":1.2,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960355/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144022447","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":"Fasciola cinereum: a novel choke point for epilepsy treatment.","authors":"Lilong Yu, Dongxiao Jiang, Yi Wang, Zhong Chen, Lin Yang","doi":"10.1186/s42494-024-00182-3","DOIUrl":"https://doi.org/10.1186/s42494-024-00182-3","url":null,"abstract":"<p><p>Ablation of seizure foci represents a crucial therapeutic approach for epilepsy. Traditionally, the seizure foci are predominantly located in the anterior hippocampus and amygdala. However, recent research by Ivan Soltesz and his colleagues described the posterior hippocampal fasciola cinereum (FC) as a region activated during seizures. Their findings demonstrate that inhibition and ablation of FC reduce seizures frequency. Therefore, FC emerges as a critical seizure node within the posterior hippocampus, playing an important role in epilepsy treatment.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"2"},"PeriodicalIF":1.2,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960240/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144049700","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":"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":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","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}

{"title":"The hidden rhythms of epilepsy: exploring biological clocks and epileptic seizure dynamics.","authors":"Ruili Niu, Xuan Guo, Jiaoyang Wang, Xiaofeng Yang","doi":"10.1186/s42494-024-00197-w","DOIUrl":"https://doi.org/10.1186/s42494-024-00197-w","url":null,"abstract":"<p><p>Epilepsy, characterized by recurrent seizures, is influenced by biological rhythms, such as circadian, seasonal, and menstrual cycles. These rhythms affect the frequency, severity, and timing of seizures, although the precise mechanisms underlying these associations remain unclear. This review examines the role of biological clocks, particularly the core circadian genes Bmal1, Clock, Per, and Cry, in regulating neuronal excitability and epilepsy susceptibility. We explore how the sleep-wake cycle, particularly non-rapid eye movement sleep, increases the risk of seizures, and discuss the circadian modulation of neurotransmitters like gamma-aminobutyric acid and glutamate. We explore clinical implications, including chronotherapy which refers to the practice of timing medical treatments to align with the body's natural biological rhythms, such as the circadian rhythm. Chronotherapy aligns anti-seizure medication administration with biological rhythms. We also discuss rhythm-based neuromodulation strategies, such as adaptive deep brain stimulation, which may dynamically change stimulation in response to predicted seizures in patients, provide additional therapeutic options. This review emphasizes the potential of integrating biological rhythm analysis into personalized epilepsy management, offering novel approaches to optimize treatment and improve patient outcomes. Future research should focus on understanding individual variability in seizure rhythms and harnessing technological innovations to enhance seizure prediction, precision treatment, and long-term management.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"1"},"PeriodicalIF":1.2,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960285/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144040127","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":"SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy.","authors":"Wenwei Liu, Kai Gao, Xilong Du, Sijia Wen, Huifang Yan, Jingmin Wang, Yong Wang, Conglei Song, Li Lin, Taoyun Ji, Weiyue Gu, Yuwu Jiang","doi":"10.1186/s42494-024-00185-0","DOIUrl":"10.1186/s42494-024-00185-0","url":null,"abstract":"<p><strong>Background: </strong>Developmental and epileptic encephalopathy (DEE) is a group of neurodevelopmental disorders characterized by early-onset seizures predominantly attributed to genetic causes. Nevertheless, numerous patients remain without identification of a genetic cause.</p><p><strong>Methods: </strong>We present four unrelated Chinese patients with SPOUT1 compound heterozygous variants, all of whom were diagnosed with DEE. We also investigated functions of SPOUT1 using the spout1 knockout zebrafish model.</p><p><strong>Results: </strong>The four unrelated DEE patients with SPOUT1 compound heterozygous variants were all males. Their onset age of seizure ranged from 3 months to 6 months (median age 5 months). All patients had epileptic spasms, and were diagnosed with infantile epileptic spasms syndrome (IESS). Three patients had microcephaly during infancy. Brain MRI in three patients showed white matter hypomyelination and bilaterally widened frontotemporal subarachnoid space. At the last follow-up, two patients exhibited drug-resistant epilepsy, one achieved seizure freedom following vigabatrin treatment, and one died at the age of 4 years and 5 months from probable sudden unexpected death in epilepsy. Seven different SPOUT1 variants were identified in the four patients, including six missense variants and one deletion variant. AlphaFold2 prediction indicated that all variants alternated the number or the length of bonds between animo acids in protein SPOUT1. Neurophysiological results from spout1 knockout zebrafish revealed the presence of epileptiform signals in 9 out of 63 spout1 knockout zebrafishes (P = 0.009). Transcriptome sequencing revealed 21 differentially expressed genes between spout1 knockout and control groups, including 13 up-regulated and 8 down-regulated genes. Two axonal transport-related genes, kif3a and ap3d1, were most prominently involved in enriched Gene Ontology (GO) terms.</p><p><strong>Conclusions: </strong>This study identified SPOUT1 as a novel candidate gene of DEE, which follows the autosomal-recessive inheritance pattern. IESS is the most common epilepsy syndrome. Downregulation of axonal transport-related genes, KIF3A and AP3D1, may play a crucial role in the pathogenesis of DEE.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"42"},"PeriodicalIF":1.2,"publicationDate":"2024-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960386/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144027300","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":"Outcome predictors in patients with temporal lobe epilepsy after temporal resective surgery.","authors":"Jiabin Yu, Yinchao Li, Xuan Xie, Liming Cheng, Shaofang Zhu, Lisen Sui, Youliang Wu, Xuemin Xie, Haitao Xie, Xiaojing Zhang, Chun Chen, Yingying Liu","doi":"10.1186/s42494-024-00190-3","DOIUrl":"https://doi.org/10.1186/s42494-024-00190-3","url":null,"abstract":"<p><strong>Background: </strong>Temporal lobe epilepsy is one of the most common types of partial epilepsy. Although surgical treatment has led to significant improvements in seizure-free rates, nearly one-third of patients still have poor seizure control after surgery. Moreover, the long-term outcome is less favorable compared to short-term outcome, with 48-58% of patients experiencing seizures five years after surgery. The aim of this study was to investigate the surgical outcomes and the predictive value of prognostic factors associated with poor surgical outcomes in temporal lobe epilepsy patients receiving surgery.</p><p><strong>Methods: </strong>We retrospectively reviewed 94 patients undergoing temporal resective surgery in the Epilepsy Center of Guangdong Provincial Hospital of Traditional Chinese Medicine between July 2016 and July 2020. Patient information including age, gender, personal and family history, as well as preoperative and postoperative clinical data (clinical type and duration of disease) was collected.</p><p><strong>Results: </strong>The differences of postoperative clinical efficacy in both seizure free group and non-seizure free group patients were observed. A log-rank test was used for univariate analysis, and a Cox proportional hazard model was used for multivariate analysis. Ninety-four patients were followed up for at least 1 years. At 12 months of follow-up, 71 (75.5%) patients achieved Engel class I, 5 (5.3%) patients were classified as Engel class II, 5 (5.3%) patients were classified as Engel class III, and 13 (13.8%) patients were classified as Engel class IV. Univariate analysis and multivariate Cox regression analysis indicated that the postoperative EEG abnormalities were significantly correlated with seizure recurrence and were significant independent predictive factors, with a hazard ratio of 12.940.</p><p><strong>Conclusions: </strong>The relapse rate in our study was similar to commonly reported overall rates in temporal lobe epilepsy patients receiving surgery. Anterior temporal lobectomy is a reliable treatment option for temporal lobe epilepsy patients. Postoperative electroencephalograph abnormalities are independent risk factors for poor surgical prognosis.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"43"},"PeriodicalIF":1.2,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960222/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015188","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":"The safety of valproic acid treatment in children with epilepsy: a retrospective real-world research.","authors":"Xiner Chen, Yujie Zhang, Xinan Liu, Ruoyu Tan, Dezhi Cao, Li Chen, Yan Hu, Bing Li, Tieshuan Huang, Qiang Zhou, Jialun Wen, Jianxiang Liao","doi":"10.1186/s42494-024-00188-x","DOIUrl":"https://doi.org/10.1186/s42494-024-00188-x","url":null,"abstract":"<p><strong>Background: </strong>Liver damage, coagulopathy, hyperammonemia, fracture, menstrual disorder and amenorrhea are the most concerned adverse drug reactions of valproic acid (VPA). This study was aimed to retrospectively investigate the incidence of adverse drug reactions of VPA in the real world and its association with the age of patients and duration of treatment in order to obtain the safety data of VPA in children with epilepsy.</p><p><strong>Methods: </strong>A total of 1943 patients diagnosed as epilepsy by the Pediatric Neurology Department of Shenzhen Children's Hospital between December 2013 and December 2023, were included in the study. They received VPA as an initial treatment, and had followed up examinations over a time span of at least two years focusing on the adverse drug reactions of VPA.</p><p><strong>Results: </strong>There was no significant difference in the incidence of liver damage, coagulation test abnormalities, and nasal bleeding during VPA monotherapy (30-90 days, 90-180 days, and > 2 years). Adolescent female patients (first visit age ≥ 12 years) showed no significant difference in the incidence of adverse reactions and abnormal ultrasound of the reproductive system pre- versus post-treatment at the first visit, similar for those below 12 years. However, laboratory blood tests revealed significantly age-dependent changes in certain biochemical markers. Two patients stopped VPA treatment due to thrombocytopenia and ovarian cystic mass comorbid with endometrial hyperplasia, recovering after VPA withdrawal.</p><p><strong>Conclusions: </strong>The initial monotherapy of VPA is generally safe in children with epilepsy of all age ranges. In the real world, VPA does not increase the risk of liver damage, coagulation disorder, elevated blood ammonia, fractures, or low serum sodium, but may significantly decrease the platelet count at 3, 6, 12, and 24 months of treatment. There is no evidence showing that VPA may increase the incidence of impairment of adolescent female reproductive system. Among children under 1 year old, it is recommended to monitor the levels of serum ammonia and aspartate aminotransferase carefully.</p><p><strong>Trial registration: </strong>ChiCTR2300075115.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"39"},"PeriodicalIF":1.2,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960323/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144022170","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":"Repetitive transcranial magnetic stimulation for post-stroke epilepsy: a mini-review.","authors":"Nicholas Aderinto, Gbolahan Olatunji, Emmanuel Kokori, Ikponmwosa Jude Ogieuhi, Abdulrahmon Moradeyo, Owolabi Samuel, Adetola Emmanuel Babalola, Tejiri Napoleon, Wuraola Awosan, Oluwaseun Oyewo, Chidinma Udojike, Oluwatobi Omoworare, Yewande Abigail Adebayo","doi":"10.1186/s42494-024-00184-1","DOIUrl":"https://doi.org/10.1186/s42494-024-00184-1","url":null,"abstract":"<p><p>Post-stroke epilepsy (PSE) is a common complication of stroke, significantly impacting patient's quality of life. Repetitive transcranial magnetic stimulation (rTMS) is an emerging potential non-invasive treatment for PSE. This review explores current evidence for rTMS in PSE, highlighting its potential benefits and limitations. Initial studies suggested that rTMS may reduce the seizure burden. Some studies observed a trend towards fewer seizures within two weeks of treatment initiation, indicating a relatively rapid response. Additionally, rTMS may be more effective when used in combination with medication, particularly for patients with specific lesion locations (frontal/temporal lobes) and seizure types (complex partial seizures). This points towards the potential of personalized treatment protocols. However, current evidence has limitations. Studies often involve small sample sizes and methodological variations, necessitating larger, well-designed trials with standardized protocols to confirm the efficacy and safety of rTMS in PSE. Future research should also focus on the optimization of treatment parameters, including stimulation frequency, duration, coil placement, and treatment course. Long-term studies are needed to evaluate the persistence of treatment effects on seizure control, cognitive function, and overall patient outcomes. Refining patient selection criteria and investigating the underlying mechanisms of therapeutic effects of rTMS in PSE are also crucial areas for future exploration.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"40"},"PeriodicalIF":1.2,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960263/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143989188","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":"The associations between oxidative stress and epilepsy: a bidirectional two-sample Mendelian randomization study.","authors":"Lan Zhang, Ningning Zhang, Xuyan Sun, Sirui Chen, Yuanhang Xu, Yaqing Liu, Junqiang Li, Dadong Luo, Xin Tian, Tiancheng Wang","doi":"10.1186/s42494-024-00173-4","DOIUrl":"https://doi.org/10.1186/s42494-024-00173-4","url":null,"abstract":"<p><strong>Background: </strong>Studies on the association between oxidative stress and epilepsy have yielded varied results. In this study, we aimed to investigate the causal relationship between oxidative stress markers and epilepsy.</p><p><strong>Methods: </strong>A bidirectional two-sample Mendelian randomization (MR) study was performed based on publicly available statistics from genome-wide association studies. To explore the causal effects, single nucleotide polymorphisms were selected as instrumental variables. Inverse-variance weighted method was performed for primary analysis, supplemented by weighted median, MR-Egger, simple mode, and weighted mode. Furthermore, sensitivity analyses were performed to detect heterogeneity and pleiotropy.</p><p><strong>Results: </strong>Our results showed that part of the oxidative stress biomarkers are associated with epilepsy and its subtypes. Zinc is associated with increased risk of epilepsy and generalized epilepsy (odds ratio [OR] = 1.064 and 1.125, respectively). Glutathione transferase is associated with increased risk of generalized epilepsy (OR = 1.055), while albumin is associated with decreased risk of generalized epilepsy (OR = 0.723). Inverse MR analysis revealed that epilepsy is associated with increased levels of uric acid and total bilirubin (beta = 1.266 and 0.081, respectively), as well as decreased zinc level (beta =  - 0.278). Furthermore, generalized epilepsy is associated with decreased ascorbate and retinol levels (beta =  - 0.029 and - 0.038, respectively).</p><p><strong>Conclusions: </strong>Our study presented novel evidence of potential causal relationships between oxidative stress and epilepsy, suggesting potential therapeutic targets for epilepsy.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"33"},"PeriodicalIF":1.2,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960306/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043915","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":"Variants of TSC1 are associated with developmental and epileptic encephalopathy and focal epilepsy without tuberous sclerosis : For the China Epilepsy Gene 1.0 Project.","authors":"Nanxiang Shen, Zhihong Zhuo, Xiangyun Luo, Bingmei Li, Xuqing Lin, Sheng Luo, Zilong Ye, Pengyu Wang, Na He, Yiwu Shi, Weiping Liao","doi":"10.1186/s42494-024-00189-w","DOIUrl":"https://doi.org/10.1186/s42494-024-00189-w","url":null,"abstract":"<p><strong>Background: </strong>The TSC1 gene encodes a growth inhibitory protein hamartin, which plays a crucial role in negative regulation of the activity of mTORC1 (mechanistic target of rapamycin complex 1). TSC1 has been associated with tuberous sclerosis complex (TSC). This study aims to investigate the association between TSC1 variants and common epilepsy.</p><p><strong>Methods: </strong>Trio-based whole-exome sequencing was performed in epilepsy patients without acquired etiologies from the China Epilepsy Gene 1.0 Project platform. The pathogenicity of the variants was evaluated according to the American College of Medical Genetics and Genomic (ACMG) guidelines.</p><p><strong>Results: </strong>Two TSC1 de novo variants, including c.1498 C > T/p.Arg500* and c.2356 C > T/p.Arg786*, were identified in two patients with developmental and epileptic encephalopathy (DEE). The patients exhibited frequent seizures and neurodevelopmental delay. Additionally, we identified two heterozygous TSC1 variants that affected four individuals with focal epilepsy from two unrelated families. The four probands did not present any typical symptom of TSC and had normal brain MRI findings. The four variants were absent in the Genome Aggregation Database (gnomAD) and were predicted to be damaging with a in silico prediction tool. Based on the ACMG guidelines, the four variants were evaluated to be \"pathogenic\" or \"likely pathogenic\". Of the patients in the China Epilepsy Gene 1.0 Project, 22 patients carried TSC1 variants and were diagnosed with TSC. The ratio of patients carrying TSC1 variants with or without TSC is about 5:1.</p><p><strong>Conclusions: </strong>TSC1 is potentially associated with common epilepsy without tuberous sclerosis.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"41"},"PeriodicalIF":1.2,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960315/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144022313","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}