Acta Epileptologica最新文献

{"title":"Identification of autosomal dominant lateral temporal epilepsy caused by a novel mutation in RELN in China: a case report.","authors":"Yan Chen, Yanmei Zhu, Wenqiang Zhong, Jia He, Haiyan Gou, Yulan Zhu","doi":"10.1186/s42494-024-00179-y","DOIUrl":"https://doi.org/10.1186/s42494-024-00179-y","url":null,"abstract":"<p><strong>Background: </strong>Temporal lobe epilepsy is the most common type of focal epilepsy, but hereditary factors are usually overlooked. Reelin (RELN) is considered to be the second most common pathogenic gene implicated in autosomal dominant lateral temporal epilepsy (ADLTE). However, this mutation is not frequently discovered in the Chinese population. Additionally, there are few clinical studies regarding the connection between RELN and glioma.</p><p><strong>Case presentation: </strong>The healthcare records of an 8-year-old child who experienced generalized tonic-clonic seizures (GTCS) during sleep for 7 years were retrospectively analyzed. In addition to experiencing his first seizure at the age of one, his mother also suffered from GTCS during her pregnancy, and a glioma was discovered. An investigation involving gene sequencing was conducted on the proband and his parents. He was diagnosed with ADLTE once a missense mutation in RELN (c.1799 C > T) was identified as the causal factor. The mutation was inherited from his mother. He was taking levetiracetam (500 mg twice a day) to avoid seizures, but his mother died of status epilepticus caused by glioma recurrence two years earlier.</p><p><strong>Conclusions: </strong>Genetic issues should be given more consideration in cases of temporal lobe epilepsy. If the source of the seizures is determined to be inherited, anti-seizure medications should be used for prolonged periods. Furthermore, more research is required to determine whether mutations in RELN are related to the occurrence and progression of gliomas.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"31"},"PeriodicalIF":1.2,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960336/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144048233","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":"Electroencephalogram and phenotype patterns in neuronopathic Gaucher disease patients - ten years of experience in a single center.","authors":"Xiying Yang, Yan Meng, Jian Chen, Qian Lu, Linyan Hu, Xiuyu Shi, Jing Wang, Guang Yang, Liping Zou","doi":"10.1186/s42494-024-00168-1","DOIUrl":"https://doi.org/10.1186/s42494-024-00168-1","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to investigate the unique electroencephalography (EEG) patterns in neuronopathic Gaucher disease (GD) patients and explore the correlations between EEG findings and neurological phenotypes so as to optimize clinical outcomes.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 74 EEG recordings from 50 GD patients between January 2012 and July 2022.</p><p><strong>Results: </strong>Twenty-three patients exhibited abnormal EEG recordings, including 11 of the GD1 type (the transitional type) and 12 with neuronopathic GD. Of the 12 neuronopathic GD patients, 9 patients with epilepsy were analysed specifically in terms of the clinical course. The primary waveform observed in the neuronopathic EEG recordings was the spike-and-wave complex (SWC) during both awake and sleep states. This was significantly different from sharp waves observed only during sleep in the patients of the transitional type (P = 0.0230). The abnormal discharges in the neuronopathic patients were most commonly located in the bilateral Rolandic areas, while the transitional type commonly involved the bilateral frontal regions. Three patients with an epileptic EEG pattern reported their initial seizures years later. Seizures in the neuronopathic patients were effectively controlled with anti-seizure medications (ASMs), despite the ongoing presence of abnormal EEG patterns. The EEG patterns during ocular symptoms were characterized by sporadic or continuous unilateral SWC during sleep.</p><p><strong>Conclusions: </strong>Patients with neuronopathic GD exhibit distinct EEG patterns that can help differentiate them from GD1 patients. Early treatment with ASMs can effectively control seizures. EEG plays a crucial role in monitoring seizures and can facilitate prompt intervention for GD patients.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"30"},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960211/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043914","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":"Differences and potential mechanisms of theta oscillation and temporoparietal and temporal-central networks in temporal lobe epilepsy patients with unilateral hippocampal sclerosis.","authors":"Chenxi Qiu, Chenxi Zhong, Ying Liu, Liju Wang, Yingying Tang, Zhiyi Liu, Sijia Guo, Yingqi Jiang, Enzhi Li, Jing Lu, Bo Yan, Xiaoting Hao, Dong Zhou","doi":"10.1186/s42494-024-00170-7","DOIUrl":"https://doi.org/10.1186/s42494-024-00170-7","url":null,"abstract":"<p><strong>Background: </strong>There is a lack of further exploration of the epileptogenic network of specific types of epilepsy, such as unilateral hippocampal sclerosis (HS), and there is an urgent need to find exact evidence to confirm the consistency of its brain network changes.</p><p><strong>Methods: </strong>We enrolled 22 mesial temporal lobe epilepsy with hippocampal sclerosis (mTLE-HS) patients to compare the differences in brain activity between 22 healthy controls (HCs) and them. Resting-state electroencephalography (EEG) was also measured. Then, we calculated the power spectral density and phase locking values in and between these electrodes.</p><p><strong>Results: </strong>The results showed the increased theta power was related to the high severity of epilepsy in the temporal, parietal, and central regions in mTLE-HS patients, and there were positive correlations between theta power in the contralateral temporal region and seizure frequency. Theta power in the ipsilateral parietal lobe is positively correlated with the number of anti-seizure medications (ASMs), but not with the usage of third-generation ASMs. Meanwhile, the temporal lobe of mTLE-HS patients had more connectivity with parietal lobe and central region.</p><p><strong>Conclusions: </strong>Theta power is an important EEG indicator of mTLE-HS, positively correlates with epilepsy severity and seizure frequency, and has network properties that can be observed outside the lesion. Moreover, the usage of third-generation ASMs did not affect the risk of increased theta power. Lastly, the temporoparietal and temporal-central networks are likely to be causative pathways in epilepsy patients with cognitive impairment. This study provides a potential guideline for the treatment of mTLE-HS in clinical practice.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"26"},"PeriodicalIF":1.2,"publicationDate":"2024-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960361/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144054243","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":"Disorders of organic acid metabolism and epilepsy.","authors":"Yuqing Shi, Zihan Wei, Yan Feng, Yajing Gan, Guoyan Li, Yanchun Deng","doi":"10.1186/s42494-024-00167-2","DOIUrl":"https://doi.org/10.1186/s42494-024-00167-2","url":null,"abstract":"<p><p>Epilepsy can be caused by a variety of causes, such as inborn errors of metabolism, organic acid disorders are the most significant type of metabolic disorders that cause seizures. The clinical manifestations of these diseases are generally nonspecific, and the types of seizures are different. Screening for multisystem clinical symptoms and identifying the underlying etiology are crucial for early treatment of epileptic seizures. This article provides a comprehensive summary of the pathogenesis, clinical features, diagnosis and treatment of epilepsy associated with organic acid metabolism disorders. Furthermore, relevant literature has also been reviewed to assist clinicians in the diagnosis of cases characterized by the coexistence of multisystemic symptoms and epileptic manifestations.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"24"},"PeriodicalIF":1.2,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960233/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144027298","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":"Electroclinical characteristics and therapies of tonic spasms.","authors":"Xi Peng, Yangmei Chen, Zezhi Wang, Xinbo Zhang, Bi Wang, Lang Jin, Xiaoli Wang, Na Yuan, Xiaojing Hu, Xiaomu Wang, Yonghong Liu","doi":"10.1186/s42494-024-00158-3","DOIUrl":"https://doi.org/10.1186/s42494-024-00158-3","url":null,"abstract":"<p><strong>Backgroud: </strong>Epileptic spasms followed by a tonic component have been frequently observed in patients with late-onset spasms (LOS). However, there is a lack of comprehensive analysis and summary of clinical data related to tonic spasms (TS), including seizures, video-electroencephalogram (V-EEG), synchronous electromyography (EMG) and follow-up data.</p><p><strong>Methods: </strong>To investigate the characteristics of TS, we prospectively collected the clinical data, including 24-h V-EEG and synchronous EMG data of 32 enrolled patients who suffered from epileptic spasms followed by a TS onset at least once during the 24-h V-EEG in the epilepsy center of Xijing Hospital between June 2015 and July 2020. The patients were prescribed anti-seizure medications (ASMs) and followed up for 2-7 years.</p><p><strong>Results: </strong>The average age of epilepsy onset was 48.06 ± 16.07 months (range: 25 to 88 months). Among the enrolled patients, 22 patients presented with mild intellectual deficits. During the 24-h video-EEG monitoring, an average of 6.94 TS events (range: 3 to 21) were recorded, and these TS seizures often occurred in clusters. In addition to TS, 26 patients experienced generalized tonic-clonic seizures (GTCS), atypical absence seizures, myoclonic seizure, and epileptic spasms. None of the 32 patients with TS displayed hypsarrhythmia during the 24-h video-EEG recording. A total of 28 patients showed normal EEG backgrounds. Interictal epileptic discharges, including slow waves (SW), spike/sharp slow waves (SSW), and spikes, often displayed multifocally. Notably, two patients achieved seizure freedom for more than 2 years through monotherapy with oxcarbazepine (OXC), which was associated with normalization of the EEG.</p><p><strong>Conclusions: </strong>It is difficult to classify the patients with TS as any existing epileptic syndromes, which were distinct from West syndrome or Lennox-Gastaut syndrome. TS might be an underreported seizure type and further studies are needed to gain a more comprehensive understanding of the electro-clinical features and appropriate choice of ASMs for treating tonic spasms.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"25"},"PeriodicalIF":1.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960261/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144027299","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 variant reanalysis reveals a case of Sandhoff disease with onset of infantile epileptic spasm syndrome.","authors":"Qi Zhang, Liping Zou, Qian Lu, Qiuhong Wang, Shuo Dun, Jing Wang","doi":"10.1186/s42494-024-00149-4","DOIUrl":"https://doi.org/10.1186/s42494-024-00149-4","url":null,"abstract":"<p><strong>Background: </strong>Sandhoff disease (SD) i s an autosomal recessive lysosomal disease with clinical manifestations such as epilepsy, psychomotor retardation and developmental delay. However, infantile SD with onset of infantile epilepsy spasm syndrome (IESS) is extremely rare.</p><p><strong>Case presentation: </strong>The case presented here was a 22-month-old boy, who presented with IESS and psychomotor retardation/regression at 6 months of age. The patient showed progressive aggravation of seizures and excessive startle responses. The whole exome sequencing data, which initially revealed negative results, were reanalyzed and indicated a homozygous mutation at the c.1613 + 4del splice site of the HEXB gene. The activities of β-hexosaminidase A and total hexosaminidase were significantly decreased. The fundus examination showed cherry red spots at the macula.</p><p><strong>Conclusions: </strong>IESS can be an epileptic phenotype of infantile SD. Clinical phenotypes should be adequately collected in genetic testing. In the case of negative sequencing results, gene variant reanalysis can be performed when the patients show clinically suspicious indications.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"6 1","pages":"6"},"PeriodicalIF":1.2,"publicationDate":"2024-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960328/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144038641","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":"Impact of prenatal, neonatal, and postnatal factors on epilepsy risk in children and adolescents: a systematic review and meta-analysis","authors":"Imen Ketata, Emna Ellouz, Rahil Mizouri","doi":"10.1186/s42494-023-00143-2","DOIUrl":"https://doi.org/10.1186/s42494-023-00143-2","url":null,"abstract":"","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"25 5","pages":"1-15"},"PeriodicalIF":0.0,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139124792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Emerging personalized virtual brain models: next-generation resection neurosurgery for drug-resistant epilepsy?","authors":"Qiao Wang, Guangyu Jin, Tao Yu, Fabrice Bartolomei, Liankun Ren","doi":"10.1186/s42494-023-00141-4","DOIUrl":"https://doi.org/10.1186/s42494-023-00141-4","url":null,"abstract":"","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"49 2","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2023-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139174654","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Status epilepticus in patients with genetic generalized epilepsy: a case series study","authors":"Gengyao Hu, Bi Wang, Beibei Chen, Zezhi Wang, Zejie Chen, Yonghong Liu","doi":"10.1186/s42494-023-00144-1","DOIUrl":"https://doi.org/10.1186/s42494-023-00144-1","url":null,"abstract":"","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"397 2","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2023-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138974155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Knowledge, attitudes and practices of the Saudi population toward people with epilepsy: narrow or wide?","authors":"A. Al-Attas, O. K. Alshehri, Abdulrahman G. Malhan, Hani M. Alabdaly, Osamah K. Alfentokh, A. Bawazir","doi":"10.1186/s42494-023-00140-5","DOIUrl":"https://doi.org/10.1186/s42494-023-00140-5","url":null,"abstract":"","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"111 30","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138609344","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}