Acta Epileptologica最新文献

{"title":"Correction: Detection method of absence seizures based on Resnet and bidirectional GRU.","authors":"Lijun Li, Hengxing Zhang, Xiaomei Liu, Jie Li, Lei Li, Dan Liu, Jieqing Min, Ping Zhu, Huan Xia, Shangkun Wang, Li Wang","doi":"10.1186/s42494-023-00119-2","DOIUrl":"10.1186/s42494-023-00119-2","url":null,"abstract":"","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"5 1","pages":"9"},"PeriodicalIF":1.2,"publicationDate":"2023-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960243/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"65794212","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":"Genetic mechanisms in generalized epilepsies.","authors":"Xiaoqian Wang, Xueyi Rao, Jia Zhang, Jing Gan","doi":"10.1186/s42494-023-00118-3","DOIUrl":"10.1186/s42494-023-00118-3","url":null,"abstract":"<p><p>The genetic generalized epilepsies (GGEs) have been proved to generate from genetic impact by twin studies and family studies. The genetic mechanisms of generalized epilepsies are always updating over time. Although the genetics of GGE is complex, there are always new susceptibility genes coming up as well as copy number variations which can lead to important breakthroughs in exploring the problem. At the same time, the development of ClinGen fades out some of the candidate genes. This means we have to figure out what accounts for a reliable gene for GGE, in another word, which gene has sufficient evidence for GGE. This will improve our understanding of the genetic mechanisms of GGE. In this review, important up-to-date genetic mechanisms of GGE were discussed.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"5 1","pages":"8"},"PeriodicalIF":1.2,"publicationDate":"2023-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960252/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47589995","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":"Detection method of absence seizures based on Resnet and bidirectional GRU.","authors":"Lijun Li, Hengxing Zhang, Xiaomei Liu, Jie Li, Lei Li, Dan Liu, Jieqing Min, Ping Zhu, Huan Xia, Shangkun Wang, Li Wang","doi":"10.1186/s42494-022-00117-w","DOIUrl":"10.1186/s42494-022-00117-w","url":null,"abstract":"<p><strong>Background: </strong>Epilepsy is a common chronic neurological disease. Its repeated seizure attacks have a great negative impact on patients' physical and mental health. The diagnosis of epilepsy mainly depends on electroencephalogram (EEG) signals detection and analysis. There are two main EEG signals detection methods for epilepsy. One is the detection based on abnormal waveform, the other is the analysis of EEG signals based on the traditional machine learning. The feature extraction method of the traditional machine learning is difficult to capture the high-dimension information between adjacent sequences.</p><p><strong>Methods: </strong>In this paper, redundant information was removed from the data by Gaussian filtering, downsampling, and short-time Fourier transform. Convolutional Neural Networks (CNN) was used to extract the high-dimensional features of the preprocessed data, and then Gate Recurrent Unit (GRU) was used to combine the sequence information before and after, to fully integrate the adjacent information EEG signals and improve the accuracy of the model detection.</p><p><strong>Results: </strong>Four models were designed and compared. The experimental results showed that the prediction model based on deep residual network and bidirectional GRU had the best effect, and the test accuracy of the absence epilepsy test set reached 92%.</p><p><strong>Conclusions: </strong>The prediction time of the network is only 10 sec when predicting four-hour EEG signals. It can be effectively used in EEG software to provide reference for doctors in EEG analysis and save doctors' time, which has great practical value.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":" ","pages":"7"},"PeriodicalIF":1.2,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43390575","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":"Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review.","authors":"Xingying Zeng, Yong Chen, Xiongying Yu, Yuanyuan Che, Hui Chen, Zhaoshi Yi, Jie Qin, Jianmin Zhong","doi":"10.1186/s42494-022-00114-z","DOIUrl":"10.1186/s42494-022-00114-z","url":null,"abstract":"<p><strong>Background: </strong>SYNGAP1 is a significant genetic risk factor for global developmental delay, autism spectrum disorder, and epileptic encephalopathy. De novo loss-of-function variants in this gene cause a neurodevelopmental disorder, for example, early-onset and drug-refractory seizures. We report two children with global developmental delay and epileptic encephalopathy, which are caused by SYNGAP1 gene novel mutations, and drug treatment is effective.</p><p><strong>Case presentation: </strong>We report a boy and a girl presented with global developmental delay when they were young babies; as they grew up, cognitive impairment and social-communication disorder became more and more prominent; unfortunately, the patients developed into various seizure types, including eyelid myoclonia, myoclonic and absences when the boy was 1 year 8 mouths old and the girl was 3 years old. The two patients were found two previously unknown mutations by high throughput sequencing [c.3271_ c.3272insT; (p.L1091L fs*62), c.2515A > T (p.K839*)] in exon 15 of the SYNGAP in the proband. Sanger sequencing confirmed the heterozygous nature, and neither of their parents carried the same mutation. The girl treated with valproic acid and prednisone became seizure-free, and valproic acid and levetiracetam combined with clonazepam were influential in the other.</p><p><strong>Conclusions: </strong>The global developmental delay and epileptic encephalopathy of the children were probably due to the pathogenic mutation of the SYNGAP1 gene, and prednisone and clonazepam may be effective in achieving seizure-free.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"5 1","pages":"6"},"PeriodicalIF":1.2,"publicationDate":"2023-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960226/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46807495","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":"Assessing structural integrity of the pyramidal tracts with diffusion spectrum imaging to predict postoperative motor function in pediatric epilepsy patients with hemispherectomy.","authors":"Huaqiang Zhang, Penghu Wei, Chao Lu, Zhenming Wang, Xiaotong Fan, Yongzhi Shan, Guoguang Zhao","doi":"10.1186/s42494-022-00115-y","DOIUrl":"10.1186/s42494-022-00115-y","url":null,"abstract":"<p><strong>Background: </strong>Hemispherectomy is an effective treatment option for patients with drug-resistant epilepsy caused by hemispheric lesions. However, patients often have deterioration of their motor functions postoperatively. Diffusion spectrum imaging (DSI) was reliable in presenting the natural shape of the white matter fibers. At the same time, the natural sprawl pyramid tract (PT) might be more intuitive for predicting postoperative motor functions. Therefore, we assessed the motor functions by the natural shape revealed by DSI tractography.</p><p><strong>Methods: </strong>Ten children with drug-resistant epilepsy who were candidates for hemispherectomy performed DSI PTs tractography and transcranial magnetic stimulation (TMS) for motor mapping. The motor function was evaluated with muscle strength and hand grasping capability. Pyramidal tract (PT) structural integrity and TMS mapping results were compared between patients who remained stable and those with deteriorated motor functions. Receiver operating characteristic (ROC) curves with PTs asymmetric ratio were analyzed to evaluate DSI tractography diagnostic value.</p><p><strong>Results: </strong>All patients underwent DSI acquisition, while four patients successfully performed TMS. One patient had no response to TMS until the maximal machine output was reached. Four patients failed to perform TMS due to lacking cooperation. One patient was contraindicated to TMS. DSI successfully reconstructed the sharp angle fan-shaped PTs within the hemisphere. The accurate fiber distribution with fiber termination and thickness within the lesioned hemisphere was replicated with DSI tractography. No significance was found in patients' age, sex, seizure frequency, or medication between patients with stable or deteriorated postoperative motor functions. DSI effectively predicted postoperative motor function as stable with damaged PTs, mild deterioration with atrophied PTs, and intact PTs with contralateral innervation confirmed by intracranial stimulation. The area under the curve (AUC) of DSI tractography was 0.84. According to ROC, the cut-off value of PTs asymmetric ratio was 11.5% with 100% sensitivity and 75% specificity. The sensitivity and specificity of TMS were 2/3 and 1/2, respectively.</p><p><strong>Conclusions: </strong>The anatomic integrity of PTs with DSI tractography could effectively predict postoperative motor function after hemispherectomy. This enables neurosurgeons to inform patients and relatives about postoperative motor functions with direct morphological evidence of PTs to help them with their surgical decisions.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":" ","pages":"2"},"PeriodicalIF":1.2,"publicationDate":"2023-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960329/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44134241","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":"A case of migraine misdiagnosed as epilepsy.","authors":"Yuting Yang, Xi Peng, Yangmei Chen","doi":"10.1186/s42494-022-00112-1","DOIUrl":"10.1186/s42494-022-00112-1","url":null,"abstract":"<p><strong>Background: </strong>Migraine and epilepsy are both episodic disorders, with some overlapping symptoms, mechanisms and therapies. Clinically, there is a comorbid relationship between them. Some migraine patients may exhibit epileptic discharges by electroencephalogram (EEG) recording. Therefore, the two conditions are easily misdiagnosed.</p><p><strong>Case presentation: </strong>We reported a 16-year-old female patient who was admitted to our hospital due to repeated headaches with disturbance of consciousness. Epileptic discharge was recorded by long-term EEG. The patient had been misdiagnosed as epilepsy, and had no response to anti-seizure medicines (ASMs). We revised her diagnosis and prescribed ibuprofen in her acute episode and prophylactic medicine, including flunarizine and amitriptyline in her interictal period. One week later, her headache disappeared.</p><p><strong>Conclusions: </strong>This patient manifested with altered levels of consciousness during headache episodes, and the abnormal EEG results lead to the misdiagnosis as epilepsy. Clinicians should be cautious to the distinction between migraine and epilepsy.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":" ","pages":"3"},"PeriodicalIF":1.2,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960377/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47233942","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":"Evaluation of P-glycoprotein-targeting circulating microRNAs as peripheral biomarkers for medically intractable epilepsy.","authors":"Yangmei Xie, Yiye Shao, Xue Gong, Ming Wang, Yinghui Chen","doi":"10.1186/s42494-022-00116-x","DOIUrl":"10.1186/s42494-022-00116-x","url":null,"abstract":"<p><strong>Background: </strong>Early diagnosis of medically intractable epilepsy is challenging in clinical work. P-glycoprotein (P-gp) is one of the most important multidrug efflux transporters, which has been demonstrated to contribute to the drug resistance of intractable epilepsy. The present study was aimed to explore the diagnostic value of microRNAs (miRNAs) targeting P-gp for medically intractable epilepsy.</p><p><strong>Methods: </strong>Thirty-six patients with intractable epilepsy and 36 epilepsy patients responsive to anti-epilepsy drugs, who visited Jinshan Hospital of Fudan University from September 2014 to September 2016, were enrolled in this study. Clinical information of the patients was obtained by retrospectively reviewing medical records. MiRNAs with differential serum expression between the two groups of patients were detected by microarray assay. Meanwhile, miRNAs that were confirmed to regulate P-gp in vitro by western blot were selected for further validation. In the validation phase, reverse transcription quantitative PCR (RT-qPCR) was conducted to confirm the differential expression of the candidate miRNAs in the epilepsy cohorts. Receiver operating characteristic (ROC) curve analysis was carried out to evaluate the diagnostic value of the miRNAs for intractable epilepsy.</p><p><strong>Results: </strong>Three miRNAs including miR-6514-3p, miR-6076-5p, and miR-6855-3p were identified to be candidate miRNAs by microarray assay. The results of western blotting validated that miR-146a-5p and miR-138-5p could regulate P-gp expression in vitro, so they were included in the candidate miRNAs for further validation. In the validation phase, the results of RT-qPCR indicated that compared with drug-responsive patients, the patients with intractable epilepsy showed decreased level of miR-138-5p and increased level of miR-146a-5p. The results of ROC curve analysis indicated that miR-138-5p (AUC = 0.877) and miR-146a-5p (AUC = 0.866) had high diagnostic value for intractable epilepsy. In addition, the miR-panel composed of miR-138-5p and miR-146a-5p showed higher diagnostic value (AUC = 0.926) than the miRNAs selected by microarray assay.</p><p><strong>Conclusions: </strong>Our results indicated that the dysregulated miR-138-5p and miR-146a-5p which target P-gp expression have high potential as peripheral biomarkers for medically intractable epilepsy.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"5 1","pages":"5"},"PeriodicalIF":1.2,"publicationDate":"2023-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960242/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44069030","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":"Reflex seizures induced by micturition: a case report.","authors":"Zhiyun Zhang, Qiwei Li, Tiejia Jiang, Jiajia Fang","doi":"10.1186/s42494-022-00107-y","DOIUrl":"10.1186/s42494-022-00107-y","url":null,"abstract":"<p><strong>Background: </strong>Reflex seizures (RS) induced by micturition are extremely rare, and the clinical and electroencephalogram features of RS are not widely known among clinicians. In particular, the origin of the epileptic area is still unclear.</p><p><strong>Case presentation: </strong>An 8-year-old girl who had generalized tonic-clonic seizures was diagnosed with RS induced by micturition based on the clinical manifestation and EEG recordings. We also reviewed the clinical and EEG characteristics of RS induced by micturition in literature by searching the databases of PubMed and MEDLINE using keywords \"micturition reflex seizure\", \"reflex seizure induced by micturition\", and \"micturition induced seizure\" by January 2022. We speculate that the mechanism of micturition-induced RS may involve excessive neuronal excitation in regions that participate in micturition.</p><p><strong>Conclusions: </strong>The RS in this patient was considered to be induced by micturition. Awareness should be raised to this rare form of RS among practitioners.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"5 1","pages":"4"},"PeriodicalIF":1.2,"publicationDate":"2023-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43028233","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 effect of hippocampal NR2B-containing NMDA receptors on chronic cognitive dysfunction in rats with temporal lobe epilepsy.","authors":"Xiaoqing Luo, Cheng Li, Xiaoli Yu, Guangtao Kuang, Xiaolu Wang, Jufang Liang, Jun Jiang","doi":"10.1186/s42494-022-00111-2","DOIUrl":"10.1186/s42494-022-00111-2","url":null,"abstract":"<p><strong>Background: </strong>We have previously reported that hippocampal long-term potentiation (LTP) was suppressed in temporal lobe epilepsy (TLE) rats. The N-methyl-D-aspartic acid receptors containing 2B subunit (NR2B-NMDARs) are indispensable to induce the LTP of hippocampus. However, it is still unknown whether the NR2B-NMDARs are implied with the cognitive dysfunction in TLE rats.</p><p><strong>Methods: </strong>The TLE model was lithium chloride-pilocarpine (li-pilo) model. Morris water maze test was used to evaluate the cognitive function of epileptic rats. Expression of hippocampal NR2B-NMDAs was evaluated by western blotting. Stereotactic injection of NMDA, an agonist of NR2B-NMDARs, into the hippocampus of TLE rats was used to investigate the role of NR2B-NMDARs on cognitive dysfunction.</p><p><strong>Results: </strong>Cognitive function TLE rats was significantly reduced compared with controls in the Morris water maze test (P < 0.05). Western blotting data showed the down-expression of hippocampal NR2B-NMDARs and p-NR2B in TLE rats compared with the control (P < 0.05). In addition, hippocampal stereolocalization of NMDA injection improved partially the learning and memory in TLE rats (P < 0.05).</p><p><strong>Conclusions: </strong>Down-expression and low activity of hippocampal NR2B-NMDARs may be implied with chronic cognitive dysfunction in TLE rats.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":" ","pages":"1"},"PeriodicalIF":1.2,"publicationDate":"2023-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960369/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49285782","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":"Development of localized interictal epileptiform discharges following vagus nerve stimulation for lennox-gastaut syndrome: a case report","authors":"Renli Qi, Wei Wang, Yao Xu, Zonglin Shen, X. Geng, N. Li, Jinghui Li, Hualin Yu","doi":"10.1186/s42494-022-00106-z","DOIUrl":"https://doi.org/10.1186/s42494-022-00106-z","url":null,"abstract":"","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":" ","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46809318","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}