Acta Epileptologica最新文献_第3页

Impact of prenatal, neonatal, and postnatal factors on epilepsy risk in children and adolescents: a systematic review and meta-analysis 产前、新生儿和产后因素对儿童和青少年癫痫风险的影响：系统回顾和荟萃分析

Acta Epileptologica Pub Date : 2024-01-02 DOI: 10.1186/s42494-023-00143-2

Imen Ketata, Emna Ellouz, Rahil Mizouri

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Correction: Emerging personalized virtual brain models: next-generation resection neurosurgery for drug-resistant epilepsy? 更正：新兴个性化虚拟脑模型：治疗耐药性癫痫的新一代切除神经外科手术？

Acta Epileptologica Pub Date : 2023-12-18 DOI: 10.1186/s42494-023-00141-4

Qiao Wang, Guangyu Jin, Tao Yu, Fabrice Bartolomei, Liankun Ren

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Status epilepticus in patients with genetic generalized epilepsy: a case series study 遗传性全身性癫痫患者的癫痫状态：病例系列研究

Acta Epileptologica Pub Date : 2023-12-14 DOI: 10.1186/s42494-023-00144-1

Gengyao Hu, Bi Wang, Beibei Chen, Zezhi Wang, Zejie Chen, Yonghong Liu

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Knowledge, attitudes and practices of the Saudi population toward people with epilepsy: narrow or wide? 沙特人对癫痫患者的认识、态度和做法：狭窄还是宽广？

Acta Epileptologica Pub Date : 2023-12-01 DOI: 10.1186/s42494-023-00140-5

A. Al-Attas, O. K. Alshehri, Abdulrahman G. Malhan, Hani M. Alabdaly, Osamah K. Alfentokh, A. Bawazir

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A case of Gitelman syndrome with homozygous SLC12A3 deletion presenting with epilepsy 一例同型 SLC12A3 缺失的吉特曼综合征癫痫患者

Acta Epileptologica Pub Date : 2023-11-29 DOI: 10.1186/s42494-023-00142-3

Ying Wang, Wenting Huang, Jia Li, Shumin Mao, Wenqiang Fang, Huiqin Xu

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Biomolecular mechanisms of epileptic seizures and epilepsy: a review 癫痫发作和癫痫的生物分子机制：综述

Acta Epileptologica Pub Date : 2023-11-15 DOI: 10.1186/s42494-023-00137-0

K. T. Sumadewi, Saktivi Harkitasari, David Christopher Tjandra

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Developmental and epileptic encephalopathy 44 due to compound heterozygous variants in the UBA5 gene: a case report 由UBA5基因复合杂合变异引起的发育性和癫痫性脑病1例报告

Acta Epileptologica Pub Date : 2023-11-13 DOI: 10.1186/s42494-023-00139-y

Suli Zhang, Shuangzhu Lin, Wanqi Wang, Yuru Gan, Cui Wang, Bangtao Li, Qiming Pang

{"title":"Developmental and epileptic encephalopathy 44 due to compound heterozygous variants in the UBA5 gene: a case report","authors":"Suli Zhang, Shuangzhu Lin, Wanqi Wang, Yuru Gan, Cui Wang, Bangtao Li, Qiming Pang","doi":"10.1186/s42494-023-00139-y","DOIUrl":"https://doi.org/10.1186/s42494-023-00139-y","url":null,"abstract":"Abstract Background Developmental and epileptic encephalopathy (DEE) is a group of rare inherited disorders characterized by intellectual disability, delayed development, epileptic seizures, and other related symptoms. DEE44 is caused by mutations in the UBA5 gene, which encodes a ubiquitin-like protein involved in protein degradation and cell signaling. However, there is limited information on the genotype–phenotype correlation of DEE44, and its clinical features remain to be fully characterized. Case presentation We report a 12-month-old infant who presented with epileptic spastic seizures beginning at 4 months of age, accompanied by overall developmental delay, short stature, microcephaly, inability to hold his head upright, chasing vision, and high muscle tone in the extremities. Genetic findings showed compound heterozygous mutations of the UBA5 gene: NM_024818 c.562C > T(p.R188X) from the mother and NM_024818 c.214C > T(p.R72C) from the father. Conclusions This case report expands the clinical spectrum of DEE44 and highlights the importance of considering DEE44 in the differential diagnosis of developmental delay and epilepsy, even in the absence of classical symptoms suggestive of the condition. We hope that this case report will advance the understanding of DEE44 and improve the expertise of clinicians and early diagnose of this disease.","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136281583","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}

引用次数: 0

Identification of a common brain network associated with lesional epilepsy 与病变性癫痫相关的共同脑网络的鉴定

Acta Epileptologica Pub Date : 2023-11-01 DOI: 10.1186/s42494-023-00138-z

Di Wu, Jinghui Liu, Liankun Ren

{"title":"Identification of a common brain network associated with lesional epilepsy","authors":"Di Wu, Jinghui Liu, Liankun Ren","doi":"10.1186/s42494-023-00138-z","DOIUrl":"https://doi.org/10.1186/s42494-023-00138-z","url":null,"abstract":"Abstract Stroke is the leading cause of neurological diseases globally. Remarkably, epilepsy is a common complication of stroke, which greatly impairs the quality of life of patients and poses a significant clinical challenge. Therefore, a better understanding of the risk factors for poststroke epilepsy is crucial. A recent study published in JAMA Neurology studied the brain network associated with poststroke epilepsy in a group of 76 patients compared to a cohort of 625 control patients using lesion mapping techniques. The results showed that negative functional connectivity between lesion locations and regions in the basal ganglia and cerebellum confers a higher risk of developing epilepsy after stroke. The lesion network nodes associated with epilepsy were identical across different lesion types including hematomas, traumas, tumors, and tubers. Furthermore, the poststroke epilepsy brain network has potential therapeutic relevance to deep brain stimulation (DBS). In a cohort of 30 patients, the functional connectivity between anterior thalamic DBS sites and the lesion network nodes was found to correlate with seizure control after DBS. In summary, the finding provides a novel method for predicting the risk of poststroke epilepsy in patients and may guide brain stimulation treatments for epilepsy.","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135321618","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}

引用次数: 0

Epilepsy in Asian countries 亚洲国家的癫痫

Acta Epileptologica Pub Date : 2023-10-13 DOI: 10.1186/s42494-023-00136-1

Alhamdu Adamu, Rui Chen, An Li, Guofang Xue

引用次数: 0

Smith-Kingsmore syndrome with nystagmus as the initial symptom 史密斯-金斯莫尔综合征以眼球震颤为首发症状

Acta Epileptologica Pub Date : 2023-10-13 DOI: 10.1186/s42494-023-00135-2

Meiling Cai, Yanfei Zhao, He Wang, Shicheng Liu, Huiyi Jiang

{"title":"Smith-Kingsmore syndrome with nystagmus as the initial symptom","authors":"Meiling Cai, Yanfei Zhao, He Wang, Shicheng Liu, Huiyi Jiang","doi":"10.1186/s42494-023-00135-2","DOIUrl":"https://doi.org/10.1186/s42494-023-00135-2","url":null,"abstract":"Abstract Background Smith-Kingsmore syndrome (SKS) is a rare autosomal dominant disorder caused by de novo mutations of gene MTOR in most cases and germline mosaicism in a few cases. The first case of SKS was reported in 2013. The incidence of SKS remains unknown. The clinical manifestations of SKS are diverse, and common features are macrocephaly, intellectual disability, and seizures. Some patients with SKS have special facial features. Case presentation The case was a 5-month-old baby girl, who was admitted to the hospital for nystagmus, delayed development for 2 months, and intermittent convulsions for 2 days. The patient had a head circumference of 42 cm (+ 2SD), and showed facial deformity, low limb muscle tension, large areas of pigmentation, as well as mosaic patchy and strip-like pigment loss in her trunk and limbs. Meanwhile, her development was lagging behind peers. Physical examination did not reveal other abnormalities. She was diagnosed with SKS based on whole-exome sequencing combined with clinical symptoms and signs. She successively received treatment with adrenocorticotropic hormone, methylprednisolone sodium succinate, topiramate, levetiracetam, and zonisamide to reduce the number of convulsions in a short time, but drug resistance appeared thereafter. After combined treatment with multiple antiseizure medications, the patient still had seizures, but the amplitude of limb movement during the seizures was reduced compared to that before treatment. Conclusions This case expanded the phenotypic spectrum of SKS for diagnosis. We also review the related literature to promote the awareness, diagnosis, clinical management, and follow-up of SKS patients with MTOR mutations.","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135853074","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}

引用次数: 0