Acta Epileptologica最新文献

{"title":"A case of Gitelman syndrome with homozygous SLC12A3 deletion presenting with epilepsy","authors":"Ying Wang, Wenting Huang, Jia Li, Shumin Mao, Wenqiang Fang, Huiqin Xu","doi":"10.1186/s42494-023-00142-3","DOIUrl":"https://doi.org/10.1186/s42494-023-00142-3","url":null,"abstract":"","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"18 1","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139209160","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":"Biomolecular mechanisms of epileptic seizures and epilepsy: a review","authors":"K. T. Sumadewi, Saktivi Harkitasari, David Christopher Tjandra","doi":"10.1186/s42494-023-00137-0","DOIUrl":"https://doi.org/10.1186/s42494-023-00137-0","url":null,"abstract":"","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"12 1","pages":"1-22"},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139275388","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":"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":"49 9","pages":"0"},"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}

{"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":"195 1","pages":"0"},"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}

{"title":"Epilepsy in Asian countries","authors":"Alhamdu Adamu, Rui Chen, An Li, Guofang Xue","doi":"10.1186/s42494-023-00136-1","DOIUrl":"https://doi.org/10.1186/s42494-023-00136-1","url":null,"abstract":"Abstract Epilepsy affects 50 million people worldwide. Nearly 80% of people with epilepsy live in resource-constrained low-income and middle-income countries. In Asia, which has a population of over 4 billion or has 50% of the world's population, about 23 million people have epilepsy. In this review, we discuss the difficulties in managing epilepsy in Asia due to the limited resources. The medical expense, limited access to treatment, premature mortality, health transitions from pediatric care to adult care, and the huge population size make it challenging for epilepsy management. Even though certain countries have access to highly innovative treatments, up to 90% of patients with epilepsy do not receive proper care due to limited resources. The insufficiency of research on epilepsy in most countries makes it difficult to obtain accurate data to analyze the progress of epilepsy management. However, the current influx of research studies, acceptance of the latest international practices, and funding will contribute a long way to closing treatment gaps in communities.","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"2 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135855607","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":"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":"25 1","pages":"0"},"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}

{"title":"Arterial spin labeling perfusion MRI applications in drug-resistant epilepsy and epileptic emergency","authors":"Yingchun Xu, Ge Tan, Deng Chen, Jiao Liu, Zixian Zhou, Ling Liu","doi":"10.1186/s42494-023-00134-3","DOIUrl":"https://doi.org/10.1186/s42494-023-00134-3","url":null,"abstract":"Abstract Epilepsy affects all age groups and is one of the most common and disabling neurological disorders worldwide. Drug-resistant epilepsy (DRE), status epilepticus (SE), and sudden unexpected death in epilepsy (SUDEP), which are associated with considerable healthcare costs and mortality, have always been difficult to address and become the focus of clinical research. The rapid identification of seizure onset and accurate localization of epileptic foci are crucial for the treatment and prognosis of people with DRE, SE, or near-SUDEP. However, most of the conventional neuroimaging techniques for assessing cerebral blood flow of people with epilepsy are restricted by time consumption, limited resolution, and ionizing radiation. Arterial spin labeling (ASL) is a newly powerful non-contrast magnetic resonance imaging technique that enables the quantitative evaluation of brain perfusion, characterized by its unique advantages of reproducibility and easy accessibility. Recent studies have demonstrated the potential advantages of ASL for the diagnosis and evaluation of epilepsy. Therefore, in this review, we discussed the complementary value of ASL in evaluating and characterizing the basic substrates underlying refractory epilepsy and epileptic emergencies.","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"23 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135387423","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":"Absence seizures in lesion-related epilepsy","authors":"Xiaoqin Sun, Miao Wang, Zeng He, Lihong Liu, Xianjun Shi, Chunqing Zhang, Ning An, Meihua Yang, Zhifeng Wu, Ruodan Wang, Li Wang, Zhongke Wang, Hui Yang, Xiaolin Yang, Shiyong Liu","doi":"10.1186/s42494-023-00133-4","DOIUrl":"https://doi.org/10.1186/s42494-023-00133-4","url":null,"abstract":"Abstract Background In the new International League Against Epilepsy (ILAE) classification of seizure types, generalized seizures such as absence seizures (ASs) may originate from a focal point and rapidly spread to the bilaterally distributed brain network. Increasing evidence from animal and clinical studies has indicated that focal changes may occur prior to ASs; however, the relationship of ASs with epileptogenic lesions remains unclear. Methods We retrospectively collected and analyzed the clinical, imaging, and electrophysiological data of 16 patients who had ASs and structural lesions with seizure-free outcomes after lesion resection. Results In semiology analysis, nine patients displayed focal onset; only two patients showed simple ASs, and seizure types other than ASs were observed in the remaining patients. On ictal electroencephalography (EEG), four patients showed bilateral synchronous symmetric 3 Hz generalized spike-wave discharges (GSWDs), and the remaining patients showed bilateral 1.5–2.5 Hz GSWDs. Moreover, most patients (13/16, 81.3%) exhibited focal features in addition to ASs, while interictal EEG was the same in 12 patients. Furthermore, on stereoelectroencephalogram (SEEG), 2/5 patients showed focal discharges before bilateral burst GSWDs. Additionally, all patients had structural lesions on imaging. In four typical AS patients, the lesions were located in deep brain regions. Notably, in 9 patients (9/16, 56%), the lesions were located in the posterior cortex. All patients underwent lesion resection and had seizure-free outcomes during follow-up, and intelligence quotient (IQ) also improved by 10.71 ± 3.90 one year after surgery. Conclusions Patients with lesion-related epilepsy may present with ASs that have a focal onset and are associated with good surgical outcomes.","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"2 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135733688","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":"Heterogeneity of clinical features, EEG and brain imaging findings in anti-leucine-rich glioma-inactivated protein 1 autoimmune encephalitis: a retrospective case series study and review of the literature.","authors":"Emily Yixuan Huang, Hongfeng Gao, Ning Zhong","doi":"10.1186/s42494-023-00132-5","DOIUrl":"10.1186/s42494-023-00132-5","url":null,"abstract":"<p><strong>Background: </strong>Anti-leucine-rich glioma-inactivated 1 (LGI-1) autoimmune encephalitis (AE), characterized by rapid decline of memory, seizures, and neuropsychiatric abnormalities, is a rare but devastating disorder. Early diagnosis and treatment are essential to prevent long-term sequelae. In this report, we provide a detailed description of clinical characteristics, laboratory test results, imaging, and electroencephalography (EEG) findings, as well as treatment responses of eight patients with anti-LGI-1 AE treated at our center.</p><p><strong>Case presentation: </strong>At the onset, all eight patients presented with confusion/memory deterioration, seizures (including faciobrachial dystonic seizures or other types of seizure), and behavioral changes such as hallucination, paranoia, and anxiety. Four patients were found with severe hyponatremia. Anti-LGI1 antibodies were detected in the cerebrospinal fluid and/or serum of all patients. For patients with faciobrachial dystonic seizures, no discernible scalp EEG change was detected, while EEG recording of patients experiencing other types of seizure showed focal slowing, focal epileptiform discharges, and focal onset seizures. All patients showed abnormal brain magnetic resonance imaging signals, mainly involving the mesial temporal lobe and the hippocampus. In addition, one patient also experienced fulminant cerebral edema during the acute phase of the illness. All patients received immunotherapy and anti-seizure medications and achieved good seizure control. Nevertheless, these patients continued to experience cognitive impairment during their long-term follow-ups.</p><p><strong>Conclusions: </strong>The care of anti-LGI1 AE patients requires rapid evaluation, prompt initiation of immunotherapy, and long-term follow-up. The long-term presence of neurocognitive complications observed in these patients underline the importance of developing reliable biomarkers that can distinguish between different subtypes of this disease with heterogeneous clinico-electrographico-radiological features. Further research is needed to understand the molecular mechanisms underlying the heterogeneity, in order to facilitate development of more effective treatments for anti-LGI1 AE.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"5 1","pages":"21"},"PeriodicalIF":1.2,"publicationDate":"2023-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960392/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42824041","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":"Consensus on pediatric epilepsy surgery for young children: an investigation by the China Association Against Epilepsy task force on epilepsy surgery.","authors":"Lixin Cai, Kai Zhang, Wenjing Zhou, Xiaoqiu Shao, Yuguang Guan, Tao Yu, Ye Wu, Shuhua Chen, Rui Zhao, Shuli Liang, Xun Wu, Guoming Luan, Yuwu Jiang, Jianguo Zhang, Xiaoyan Liu","doi":"10.1186/s42494-023-00130-7","DOIUrl":"10.1186/s42494-023-00130-7","url":null,"abstract":"<p><p>Researchers have widely acknowledged the therapeutic value of epilepsy surgery for drug-resistant epilepsy. Nonetheless, there is a substantial gap in the surgical treatment for appropriate candidates owing to several factors, particularly in the population of young children. To standardize the protocols of preoperative evaluation and surgery of young children for epilepsy surgery, the China Association Against Epilepsy has appointed an expert task force to standardize the protocols of preoperative evaluation and surgery in pediatric epilepsy patients. It adopted the modified Delphi method and performed two rounds of surveys through an anonymous inquiry among 75 experts from four subgroups including pediatric neurologists, epileptologists, pediatric epilepsy surgeons, and functional neurosurgeons. The survey contents contained: (1) the participants, comprising children aged ≤ 6 years; (2) adopted DRE definition proposed by the International League Against Epilepsy in 2010; and (3) investigated epilepsy surgery, principally referring to curative epilepsy surgeries. The neuromodulation therapies were excluded because of the differences in treatment mechanisms from the above-mentioned surgeries. According to the Delphi process, a consensus was achieved for most aspects by incorporating two rounds of surveys including preoperative assessment, surgical strategies and techniques, and perioperative and long-term postoperative management, despite controversial opinions on certain items. We hope the results of this consensus will improve the level of surgical treatment and management of intractable epilepsy in young children.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":" ","pages":"20"},"PeriodicalIF":1.2,"publicationDate":"2023-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44368258","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}