Mengwen Zhang, Jing Guo, Bin Li, Kang Liu, Jiayuan Zhao, Jiayuan Zhang, Xuqing Lin, Bin Tang, Jie Wang, Weiping Liao, Na He
{"title":"Characteristic spatial and frequency distribution of mutations in SCN1A.","authors":"Mengwen Zhang, Jing Guo, Bin Li, Kang Liu, Jiayuan Zhao, Jiayuan Zhang, Xuqing Lin, Bin Tang, Jie Wang, Weiping Liao, Na He","doi":"10.1186/s42494-024-00178-z","DOIUrl":"https://doi.org/10.1186/s42494-024-00178-z","url":null,"abstract":"<p><strong>Background: </strong>SCN1A is the most well-recognized and commonly mutated gene related to epilepsy. This study analyzed the characteristic spatial and frequency distributions of SCN1A mutations, aiming to provide important insight into the mutagenesis etiopathology of SCN1A-associated epilepsy.</p><p><strong>Methods: </strong>Epilepsy-associated SCN1A variants were retrieved from the SCN1A mutation database, the HGMD database, and literature reviews. The base substitutions, mutation frequencies in CpG dinucleotides, and spatial distributions of mutations in terms of exons and structural domains were analyzed.</p><p><strong>Results: </strong>A total of 2621 SCN1A variants were identified in 5106 unrelated cases. The most common type was missense mutation, followed by frameshift mutations and splice site mutations. Among the missense mutations, transitions within CpG dinucleotides were much more recurrently identified than transitions within non-CpG dinucleotides, and the most common type was the G > A transition. Among the nonsense mutations, the most predominant type of single-base substitution was the C > T transition, among which 75.3% (235/312) were within CpG sites. The most common \"hotspot\" codons for missense mutations were codons 101, 946, and 1783; while for nonsense mutations it was codon 712. One-base deletion or insertion was the most common type of frameshift mutation, causing protein truncation. The three most common frameshift mutations were c.5536_5539delAAAC, c.4554dupA, and c.5010_5013delGTTT. Splice mutations were the most frequently identified in exon 4 with a hotspot site c.602 + 1G > A. The spatial distribution of missense mutations showed that exons 22 and 4 had the highest mutation density (111 and 84 mutations per 100 bp, respectively), and exon 12 had the lowest mutation density, with 4 mutations per 100 bp. Further distribution analysis of the protein domains revealed that missense mutations were more common in the pore region and voltage sensor (231 mutations per 100 amino acids, respectively), and the protein truncation mutations were distributed evenly among the domains.</p><p><strong>Conclusions: </strong>SCN1A mutations tend to cluster at distinct sites, depending on the characteristic CpG dinucleotides, exons, and functional domains. Higher mutation density in particular regions, such as exon 22 and exon 4, offers promising targets for therapeutic genetic interventions.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"37"},"PeriodicalIF":1.2,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960241/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143999470","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}
Dongming Zhang, Jing Guo, Zisheng Lin, Hongjun Yan, Kai Peng, Linxia Fei, Qiongxiang Zhai, Dongfang Zou, Jiayi Zhong, Yan Ding, Hong Ye, Pengyu Wang, Jie Wang, Sheng Luo, Bingmei Li, Bin Li, Weiping Liao
{"title":"SLC2A1 variants cause late-onset epilepsy and the genetic-dependent stage feature : For the China Epilepsy Gene 1.0 Project.","authors":"Dongming Zhang, Jing Guo, Zisheng Lin, Hongjun Yan, Kai Peng, Linxia Fei, Qiongxiang Zhai, Dongfang Zou, Jiayi Zhong, Yan Ding, Hong Ye, Pengyu Wang, Jie Wang, Sheng Luo, Bingmei Li, Bin Li, Weiping Liao","doi":"10.1186/s42494-024-00177-0","DOIUrl":"https://doi.org/10.1186/s42494-024-00177-0","url":null,"abstract":"<p><strong>Background: </strong>The SLC2A1 gene plays a vital role in brain energy metabolism. SLC2A1 variants have been reported to be associated with early-onset refractory seizures. This study aims to explore the association between the SLC2A1 gene and late-onset epilepsy.</p><p><strong>Methods: </strong>Trios-based whole-exome sequencing was performed on patients with epilepsy without acquired etiologies. The pathogenicity of the variants was assessed according to the American College of Medical Genetics and Genomics (ACMG) guidelines.</p><p><strong>Results: </strong>A total of 14 heterozygous SLC2A1 variants were identified in 16 unrelated families. The variants were evaluated as \"pathogenic\" or \"likely pathogenic\" according to the ACMG guidelines. Ten cases (62.5%) presented with infantile onset seizures and developmental delay/intellectual disability and were diagnosed with developmental and epileptic encephalopathy (DEE). The other six cases (37.5%) exhibited late-onset seizures and normal development. They were diagnosed with idiopathic partial epilepsy (n = 2) or idiopathic generalized epilepsy (n = 4). Further analysis showed that DEE-associated variants tended to cluster in the transmembrane region, whereas the mild epilepsy-associated variants tended to locate in regions outside the transmembrane region, suggesting a potential molecular sub-regional effect. A total of 15 cases had delayed diagnosis, with the longest delay being 22 years. The SLC2A1 expression stage, which is expressed at relatively high level throughout the whole life span, from the embryonic to adult stages with two peaks at approximately four and 14 years, is generally consistent with the seizure onset age. In addition, patients with early-onset age had variants that were potentially associated with severe damage, suggesting a potential correlation between the age of disease onset and the damaging effects of the variants.</p><p><strong>Conclusions: </strong>SLC2A1 variants are associated with late-onset epilepsy, which is consistent with the genetic-dependent stage feature of SLC2A1. Early genetic diagnosis is important for treatment of patients with SLC2A1 variants.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"38"},"PeriodicalIF":1.2,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960290/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144062462","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}
Moses B Ekong, Okokon O Bassey, Deborah I Ebeh, Godslove D Usukuma, Darlington C Samuel, Rosemary B Bassey, Aniekan I Peter, Christopher C Mbadugha, Jude E Okokon, Monday I Akpanabiatu
{"title":"Rauvolfia vomitoria phenol extract relieves pentylenetetrazol-induced seizures in Swiss mice and protects some temporal lobe structures.","authors":"Moses B Ekong, Okokon O Bassey, Deborah I Ebeh, Godslove D Usukuma, Darlington C Samuel, Rosemary B Bassey, Aniekan I Peter, Christopher C Mbadugha, Jude E Okokon, Monday I Akpanabiatu","doi":"10.1186/s42494-024-00183-2","DOIUrl":"https://doi.org/10.1186/s42494-024-00183-2","url":null,"abstract":"<p><strong>Background: </strong>Rauvolfia vomitoria (R. vomitoria) is a plant of economic importance due to its diverse ethnomedicinal properties, including the anticonvulsant effect. In this study, we studied the antiseizure and neuroprotective potentials of R. vomitoria extracts against pentylenetetrazol (PTZ)-induced kindling.</p><p><strong>Methods: </strong>Twenty-five adult Swiss mice (25-30 g) were assigned to five groups (n = 5): control group, PTZ treatment group, and PTZ treatment after receiving oral R. vomitoria crude extract (100 mg/kg), R. vomitoria phenol extract (50 mg/kg) or sodium valproate (15 mg/kg) every 48 h for 28 days. Seizure scores, cognitive behavioral tests including novel object test, Y-maze test, and the elevated plus maze test, as well as brain neurochemicals and histomorphology studies, were performed.</p><p><strong>Results: </strong>Compared with the control group, the PTZ group showed comparable body weight and durations in closed and open arms (P > 0.05), but preference for familiar objects, significant (P < 0.05) spontaneous alternation, increased monoamine oxidase activity and nitric oxide level, and Nissl chromatolysis in the temporal lobe structures including the cortex, hippocampus, and amygdala. R. vomitoria phenol extract pretreatment significantly (P < 0.05) reduced seizures, prevented adverse cognitive behaviors, decreased the nitric oxide level, and reduced the temporal lobe Nissl chromatolysis compared with the R. vomitoria crude extract pretreatment group and the sodium valproate pretreatment groups.</p><p><strong>Conclusions: </strong>Thus, R. vomitoria phenol extract showed promising results against seizures and potential for general brain protection, suggesting that the anticonvulsant property of R. vomitoria may be attributed to its phenol constituent. More studies are needed to delineate the mechanisms of its action.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"35"},"PeriodicalIF":1.2,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960394/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144048234","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}
Xueyan Cao, Xin Ding, Fengjun Zhu, Li Chen, Yan Chen, Yang Sun, Lin Li, Zeshi Tan, Cong Li, Yi Yao, Qiru Su, Dezhi Cao
{"title":"Surgical outcomes of drug-refractory infantile epileptic spasms syndrome and related prognostic factors: a retrospective study.","authors":"Xueyan Cao, Xin Ding, Fengjun Zhu, Li Chen, Yan Chen, Yang Sun, Lin Li, Zeshi Tan, Cong Li, Yi Yao, Qiru Su, Dezhi Cao","doi":"10.1186/s42494-024-00176-1","DOIUrl":"https://doi.org/10.1186/s42494-024-00176-1","url":null,"abstract":"<p><strong>Background: </strong>In this study, we aimed to assess the efficacy of surgical treatment in children with drug-refractory infantile epileptic spasms syndrome (IESS) and examine the factors influencing the post-surgical outcomes.</p><p><strong>Methods: </strong>The clinical data of 30 children (18 males and 12 females) with epileptic spasms (ES) who underwent surgery at the Epilepsy Center of Shenzhen Children's Hospital between June 2018 and June 2020 were retrospectively analyzed. Post-surgical outcomes were evaluated using the Engel Epilepsy Surgery Outcome Scale. Scalp electroencephalography and developmental quotient were assessed preoperatively and postoperatively. Univariate analysis and exact logistic regression analyses were used to identify the factors affecting the postoperative efficacy.</p><p><strong>Results: </strong>Of the 30 patients who underwent surgical resection, 22 (73.3%) achieved Engel's class I-II outcomes. Additionally, motor and cognitive functions improved in 14 patients (46.7%). The development of 12 (40%) patients remained at the preoperative development level. The median number of antiseizure medications taken preoperatively was 5.27 (range 2-10), which decreased to 1.90 (range 0-4) at the last follow-up. Seizure duration, etiology, positive positron emission tomography-magnetic resonance imaging (PET-MRI), surgery type, and lesion location were significantly correlated with the postoperative efficacy (P < 0.05). Positive PET/MRI findings and lesion location predicted independently the postoperative outcomes. Permanent impairments of motor or language function were rare, with only two cases reporting hydrocephalus and one reporting hemiplegia.</p><p><strong>Conclusions: </strong>Surgery is an effective treatment option for children with IESS. Early referral and comprehensive preoperative evaluation are essential for identification of surgically treatable structural lesions. The primary surgically treatable cause is cortical malformation, followed by perinatal brain injury. Hemispheric disconnection is a preferred surgical approach. Positive PET/MRI findings and lesion location predicted the postoperative outcomes.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"36"},"PeriodicalIF":1.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960351/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015190","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":"\"Catch me if you can\" - locating the \"Black Sheep\" neurons after early-life seizures.","authors":"Yingying Tang, Xiongfeng Guo, Mengqi Yan, Cenglin Xu","doi":"10.1186/s42494-024-00174-3","DOIUrl":"https://doi.org/10.1186/s42494-024-00174-3","url":null,"abstract":"<p><p>Unprovoked seizures in early life are one of the most severe conditions in pediatric neurology, and are often associated with long-lasting cognitive and behavioral deficits, as well as pharmacoresistant epilepsy in adulthood in some conditions. Unillustrated mechanisms greatly restrict the development of preventive strategies for early-life seizures (ELSs) related neuronal impairments. The recent groundbreaking study published in The Journal of Clinical Investigation represents a giant leap forward in understanding the complex pathogenesis mechanism and developing targeted therapies for ELS related neuronal impairments. The authors conducted elegant experiments to locate the activated pyramidal neuron subpopulation in the hippocampus and demonstrated the altered functions of (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid)-type glutamate receptors (AMPARs). And we believe that the conclusions of this study may assist in further translational efforts to identify preventive targets for neurological disorders associated with early life seizures and propose new avenues for further exploration in this field.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"29"},"PeriodicalIF":1.2,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960280/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144054228","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":"Impulsivity and epilepsy: a bidirectional mendelian randomization study.","authors":"Tao Chen, Yuqi Liao, Peiwei Hong","doi":"10.1186/s42494-024-00181-4","DOIUrl":"https://doi.org/10.1186/s42494-024-00181-4","url":null,"abstract":"<p><strong>Background: </strong>Previous studies have found that patients with epilepsy are more likely to suffer impulsivity. However, the causal relationship between impulsivity and epilepsy is unknown. In this study, we conduct a bidirectional Mendelian randomization (MR) study to explore the causal relationship between impulsivity and epilepsy with recurrent seizure.</p><p><strong>Methods: </strong>Data of the genome-wide association studies (GWAS) on 14 impulsivity traits and epilepsy were obtained from the GWAS catalog and UK Biobank. Inverse-variance weighted (IVW) and weighted median (WM) methods were utilized for MR estimates. IVW, MR-Egger regression, and MR-pleiotropy residual sum and outlier (MR-PRESSO) methods were used to assess heterogeneity and pleiotropy.</p><p><strong>Results: </strong>Single-nucleotide polymorphisms (SNPs) related to the lack of perseverance were associated with a decreased risk of epilepsy with recurrent seizures according to the results of IVW (odd ratio [OR] = 0.93, 95% confident interval [CI] = 0.90-0.97, P = 0.001) and WM (OR = 0.93, 95%CI = 0.87-0.98, P = 0.007). Meanwhile, heterogeneity was not observed with a Cochran Q-derived P value of 0.819 for MR egger and a P value of 0.808 for IVW. Pleiotropy was not found according to the MR-PRESSO (P = 0.273). The other 13 impulsivity traits had no causal effect on epilepsy with recurrent seizures. Meanwhile, SNPs related with epilepsy with recurrent seizures had no causal effect on the 14 impulsivity traits.</p><p><strong>Conclusions: </strong>This MR study suggests that lack of perseverance may be a protective factor against epilepsy with recurrent seizures. However, epilepsy with recurrent seizures does not affect impulsivity.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"32"},"PeriodicalIF":1.2,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960367/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143989369","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}
Gülsüm Akdeniz, Sadiye Gumusyayla, Gonul Vural, Orhan Deniz, Pınar Özışık
{"title":"Face and face pareidolia in patients with temporal lobe epilepsy indicates different neural processing: an event-related potential study.","authors":"Gülsüm Akdeniz, Sadiye Gumusyayla, Gonul Vural, Orhan Deniz, Pınar Özışık","doi":"10.1186/s42494-024-00175-2","DOIUrl":"https://doi.org/10.1186/s42494-024-00175-2","url":null,"abstract":"<p><strong>Background: </strong>Visual perception of face images or face pareidolia can be evaluated with event-related potentials (ERP) for healthy subjects and patients with neurological conditions. In this study, we aimed to analyse event-related potential components such as P100, N100, N170, and vertex-positive potential (VPP) in response to face pareidolia perception in temporal lobe epilepsy (TLE) patients.</p><p><strong>Methods: </strong>ERPs were recorded during the pareidolia test. Waveforms were analzyed and current source density (CSD) maps were generated.</p><p><strong>Results: </strong>CSD profiles were shown to be interpretable when face and face pareidolia conditions. N100, P100, and N170 components showed larger amplitudes and longer latency in epilepsy patients in response to face pareidolia stimuli compared to real face images. However, the N170 component latency did not differ significantly between epilepsy patients and healthy participants, while the larger amplitude and longer latency of N100 and P100 responses were evoked in healthy patients.</p><p><strong>Conclusions: </strong>Our results indicate a difference in the neural mechanisms of processing real face information and pareidolia face-like information in TLE patients.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"34"},"PeriodicalIF":1.2,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960347/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144019487","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}
Yajing Gan, Guoyan Li, Zihan Wei, Yan Feng, Yuqing Shi, Yanchun Deng
{"title":"Precision diagnosis and treatment of vitamin metabolism-related epilepsy.","authors":"Yajing Gan, Guoyan Li, Zihan Wei, Yan Feng, Yuqing Shi, Yanchun Deng","doi":"10.1186/s42494-024-00169-0","DOIUrl":"https://doi.org/10.1186/s42494-024-00169-0","url":null,"abstract":"<p><p>Epilepsy is a chronic disorder of the nervous system caused by abnormal discharges from brain cells. Structural, infectious, metabolic, immunologic, and unknown causes can contribute to the development of seizures. In recent years, there has been increasing attention on epilepsy caused by genetic metabolic disorders. More than two hundred inherited metabolic disorders have been identified as potential cause of seizures, and they are mainly associated with energy deficiency in the brain, accumulation of toxic substances, abnormal neurotransmitter transmission, and deficiency of cofactors. Vitamins play a crucial role as components of several enzymes or coenzymes. Impaired metabolism of thiamine, biotin, vitamin B6, vitamin B12 and folic acid can contribute to early-onset seizures and developmental abnormalities in infants. However, timely supplementation therapy can significantly improve patient prognosis of affected patients. Therefore, a thorough understanding and investigation of the metabolic basis of epilepsy is essential for the development of precise therapeutic approaches, which could provide significant therapeutic benefits for patients.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"27"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960229/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144064947","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":"Hippocampal sclerosis in women with temporal lobe epilepsy: seizure and pregnancy outcomes.","authors":"Yujie Chen, Nanya Hao, Weixi Xiong, Hesheng Zhang, Enhui Zhang, Zhujing Ou, Lei Chen, Xintong Wu, Dong Zhou","doi":"10.1186/s42494-024-00166-3","DOIUrl":"https://doi.org/10.1186/s42494-024-00166-3","url":null,"abstract":"<p><strong>Background: </strong>Temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) is typically resistant to pharmacological interventions; however, achieving seizure freedom is possible through surgery. Our objective was to focus on the pregnancy and seizure outcomes during pregnancy of women with TLE-HS, and aim to identify predictors of seizure control.</p><p><strong>Methods: </strong>The West China Registry of Pregnancy of Women with Epilepsy (WCPR_EPi) was a monocentric prospective cohort study of women with epilepsy (WWE). We screened women with TLE-HS in this database. Their clinical profile, anti-seizure medication (ASM) use, and pregnancy outcomes were extracted from the records of the registry (2010-2023).</p><p><strong>Results: </strong>Out of 2320 WWE followed up, 47 pregnancies in women with TLE-HS were identified and analyzed. Seizure exacerbation occurred in 40.4% of pregnancies, and seizure freedom was present in 34.0% of these during pregnancy. Factors associated with seizure exacerbation during pregnancy was ASM non-adherence (odds ratio [OR] =7.00, 95% confidence interval [CI] 1.43-34.07, P=0.016). The surgery group showed a significantly higher seizure freedom rate (OR = 6.87, 95% CI 1.02-46.23, P=0.016) and lower rate of induced labor (0.0% vs 26.5%, P=0.047) compared to the medically-treated group alone. Caesarean section was chosen in 77.1% of cases due to seizure concerns, with comparable in epilepsy-related (n=20) and obstetric causes (n=24). No major congenital malformations were reported.</p><p><strong>Conclusions: </strong>Surgical treatment before pregnancy appears to offer a higher chance of seizure freedom compared to medication alone. Most of women with TLE-HS can deliver healthy offspring regardless of suboptimal seizure control and unwarranted concerns.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"21"},"PeriodicalIF":1.2,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144031751","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}
Daniel Villamizar-Torres, Andrea Carolina Cepeda Trillos, Alejandro Vargas-Moreno
{"title":"Mesial temporal sclerosis and epilepsy: a narrative review.","authors":"Daniel Villamizar-Torres, Andrea Carolina Cepeda Trillos, Alejandro Vargas-Moreno","doi":"10.1186/s42494-024-00172-5","DOIUrl":"https://doi.org/10.1186/s42494-024-00172-5","url":null,"abstract":"<p><p>Mesial temporal sclerosis (MTS) stands out as a prevalent etiology of medically intractable temporal lobe epilepsy. Understanding the pathological alterations, clinical manifestations and risk factors of MTS is crucial for the recognition and suspicion of this condition. In this paper, we provide a comprehensive narrative review on the pathophysiology, clinical manifestations, and treatment options for MTS. By doing so, we aim to provide an up-to-date understanding of this condition.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"28"},"PeriodicalIF":1.2,"publicationDate":"2024-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960268/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144037502","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}