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Subtraction ictal single-photon emission computed tomography (SPECT) co-registered to MRI (SISCOM) in presurgical diagnostics of epilepsy 癫痫手术前诊断中与核磁共振成像(SISCOM)共同登记的抽吸发作期单光子发射计算机断层扫描(SPECT)
Q4 Medicine Pub Date : 2024-04-16 DOI: 10.17749/2077-8333/epi.par.con.2024.173
E. V. Ishmuratov, A. Zuev
Success of surgically treated epilepsy depends on the accuracy of epileptogenic zone localization. Single-photon emission computed tomography (SPECT) using SISCOM (subtraction ictal SPECT co-registered to MRI) protocol is the only imaging method that allows identification of ictal onset zone by injection and fixation of a special radioactive tracer in the area of increased cerebral blood flow. The review outlines the key stages of SPECT using SISCOM protocol, generalizes and analyzes data for related opportunities and disadvantages as well as its prospects for use in preoperative examination of patients with epilepsy. It was demonstrated that the technique showed high sensitivity (mean 70–75%) to localize epileptogenic zone in patients with pharmacoresistant epilepsy in case if brain structural changes were not detected by magnetic resonance imaging (MRI). However, the organizational features of the procedure in combination with its specific limitations for epilepsy patients do not allow it to be considered as a routine diagnostic method.
手术治疗癫痫的成功与否取决于致痫区定位的准确性。单光子发射计算机断层扫描(SPECT)采用 SISCOM(与核磁共振成像共同注册的减影致痫区 SPECT)方案,是唯一一种通过在脑血流增加区域注射和固定特殊放射性示踪剂来识别致痫区的成像方法。综述概述了使用 SISCOM 方案进行 SPECT 的关键阶段,归纳并分析了相关机遇和弊端的数据,以及在癫痫患者术前检查中的应用前景。研究表明,在磁共振成像(MRI)未检测到脑结构变化的情况下,该技术对药理耐药性癫痫患者致痫区的定位具有很高的灵敏度(平均为 70-75%)。然而,由于该方法的组织特点及其对癫痫患者的特殊限制,因此不能将其作为常规诊断方法。
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引用次数: 0
Artificial intelligence applied for the diagnosis of absence epilepsy with simultaneously tested patient’s consciousness level in ictal event 应用人工智能诊断失神性癫痫,同时测试发作事件中患者的意识水平
Q4 Medicine Pub Date : 2024-04-16 DOI: 10.17749/2077-8333/epi.par.con.2024.178
M. B. Mironov, M. O. Abramov, V. V. Kondratenko, I. R. Vafin, S. Y. Smirnov, S. E. Vaganov, A. Ivanov
Background. Given the difficulties in identifying absences and assessing the level of consciousness in epilepsy patients, it is extremely relevant to develop digital programs for automatic registration and testing of this type of epileptic seizures and related electroencephalographic (EEG) patterns, including those based on artificial intelligence.Objective: development of an algorithm for automatic detection of absence seizures to test real time patient's consciousness level during long-term video-EEG monitoring.Material and methods. The work on creating an algorithm was carried out during joint doctor/engineer cooperation. Doctors prepared a set of labeled EEG recordings of patients with verified absence epilepsy. Two independent experts in the generated examinations database mapped typical episodes of absence seizures that allowed to develop training and testing samples for a neural network algorithm to detect EEG absence epiactivity. Next, trained neural network was incorporated into Neuron- Spectrum.NET software to compare its accuracy with similar approaches published elsewhere.Results. A neural network algorithm was developed and trained using a mapped database to detect EEG absence epiactivity. A comparative analysis of the effectiveness for the proposed method vs. other approaches showed that the former is comparable in quality, whereas in some aspects – even superior to the latter. Accuracy was assessed using a publicly available database with mapped epiactivity episodes.Conclusion. A hardware and software system for automated assessment of patient’s consciousness level during absence seizure in continuous video-EEG monitoring was proposed. Potentially, neural networks may be applied not only to assess patient’s consciousness level, but also to stop stimulation-mediated seizure onset in the future.
背景。鉴于识别失神和评估癫痫患者意识水平的困难,开发用于自动登记和测试此类癫痫发作及相关脑电图(EEG)模式的数字程序,包括基于人工智能的程序,具有极其重要的意义。目的:开发一种自动检测失神发作的算法,以便在长期视频-EEG监测期间实时测试患者的意识水平。创建算法的工作是在医生和工程师的共同合作下进行的。医生们准备了一组经过验证的失神性癫痫患者的标记脑电图记录。两位独立专家在生成的检查数据库中绘制了失神发作的典型发作图,从而为检测脑电图失神发作的神经网络算法开发了训练和测试样本。然后,将训练好的神经网络纳入 Neuron- Spectrum.NET 软件,将其准确性与其他地方发布的类似方法进行比较。利用映射数据库开发并训练了一种神经网络算法,用于检测脑电图缺失表观活动。对所提方法与其他方法的有效性进行的比较分析表明,前者的质量相当,而在某些方面甚至优于后者。我们使用一个公开数据库评估了该方法的准确性。我们提出了一种硬件和软件系统,用于在连续视频脑电图监测中自动评估失神发作时患者的意识水平。未来,神经网络不仅可用于评估患者的意识水平,还可用于阻止刺激介导的癫痫发作。
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引用次数: 0
Living with epilepsy: patient knowledge and psychosocial impact 与癫痫共存:患者的知识和社会心理影响
Q4 Medicine Pub Date : 2024-04-16 DOI: 10.17749/2077-8333/epi.par.con.2024.166
O. P. Musekwa, L. Makhado
Background. People living with epilepsy (PLWE) often face psychological comorbidities and social challenges due to low levels of knowledge and awareness about epilepsy, as well as personal experiences with the condition. This can result in a low quality of life for PLWE.Objective: to investigate the psychosocial impact of epilepsy on patients residing in rural regions of South Africa (Limpopo and Mpumalanga Provinces).Material and methods. A non-experimental quantitative research was conducted, which involved 162 respondents living with epilepsy. Most were males, and the majority were between 18 and 35 years old in both provinces combined. The participants were offered a questionnaire divided into three sections comprising sociodemographic aspects, questions that assessed knowledge, and questions on the psychosocial impact of epilepsy.Results. I t was shown that while PLWE have a solid understanding of epilepsy as a medical condition, they may not fully comprehend its effects on daily life. For example, many respondents felt shameful after having a seizure and difficulties in forming relationships, and a significant proportion stated that they were never married because of epilepsy. The study highlights the significant psychosocial impact of epilepsy on PLWE, including depression, difficulties in forming and maintaining social connections, and a lack of marital experience.Conclusion. To improve PLWE’s quality of life, the psychological help is recommended through healthcare facilities or local support groups.
背景。癫痫患者(PLWE)由于对癫痫的知识和认识水平较低,以及个人对癫痫病的经历,常常面临心理并发症和社会挑战。目的:调查癫痫对南非农村地区(林波波省和姆普马兰加省)患者的社会心理影响。我们进行了一项非实验性定量研究,162 名受访者患有癫痫。在这两个省中,大多数受访者为男性,年龄在 18 至 35 岁之间。调查问卷分为三个部分,包括社会人口学方面的问题、知识评估问题和癫痫对社会心理影响的问题。结果表明,虽然 PLWE 对癫痫这种疾病有充分的了解,但他们可能并不完全理解癫痫对日常生活的影响。例如,许多受访者在癫痫发作后感到羞耻,难以建立人际关系,还有相当大比例的受访者表示因为癫痫而从未结婚。这项研究强调了癫痫对 PLWE 的重大社会心理影响,包括抑郁、难以建立和维持社会关系以及缺乏婚姻经验。为改善 PLWE 的生活质量,建议通过医疗机构或当地支持团体提供心理帮助。
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引用次数: 0
Cognitive impairment in childhood-onset epilepsy 儿童期癫痫的认知障碍
Q4 Medicine Pub Date : 2024-04-16 DOI: 10.17749/2077-8333/epi.par.con.2024.176
A. I. Paramonova, K. D. Lysova, E. E. Timechko, G. V. Senchenko, M. R. Sapronova, D. V. Dmitrenko
In pediatric practice, epilepsy holds one of the leading places among neurological pathologies. Along with seizures, a child's intellectual impairment lowering quality of life plays a crucial role in social disintegration. Cognitive impairments occuring in idiopathic generalized epilepsies (IGE) and self-limited epilepsy with centrotemporal spikes (SeLECTS) considered benign have been widely investigated. However, available data suggest that such disorders result in multiple persistent alterations in the cognitive sphere. In this case, features of the epilepsy etiopathogenesis account for disease early onset and profoundly remodeled structures involved in the implementation of cognitive functions. Current review is aimed to summarizing data regarding developmental mechanisms and range of cognitive impairment in IGE and SeLECTS.
在儿科临床中,癫痫是神经系统疾病中的主要病症之一。除癫痫发作外,儿童智力受损、生活质量下降对社会解体也起着至关重要的作用。特发性全身性癫痫(IGE)和自限性癫痫伴心颞区棘波(SeLECTS)被认为是良性的,其认知障碍已被广泛研究。然而,现有数据表明,这类疾病会导致认知领域的多种持续性改变。在这种情况下,癫痫发病机制的特点导致了疾病的早发和参与认知功能实现的结构的深刻重塑。本综述旨在总结有关 IGE 和 SeLECTS 认知功能障碍的发展机制和范围的数据。
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引用次数: 0
SEMA6B-related progressive myoclonus epilepsy in a patient with Klinefelter syndrome 一名克莱恩费尔特综合征患者的 SEMA6B 相关进行性肌阵挛癫痫
Q4 Medicine Pub Date : 2024-04-16 DOI: 10.17749/2077-8333/epi.par.con.2024.175
T. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, L. M. Sushko, K. V. Osipova, A. M. Mazur, S. S. Fomenko, A. I. Krapivkin, N. N. Zavadenko
In most cases, variants of nucleotide sequence in the SEMA6B gene account for developing the phenotype of progressive myoclonus epilepsy and, to a lesser extent, developmental encephalopathy with or without epilepsy. Loss-of-function variants in nucleotide sequence localized mainly in exon 17 of the SEMA6B gene contribute to production of aberrant proteins with “toxic” functions. A clinical case of status epilepsy in a patient with a variant in the SEMA6B gene (c.2506delС; p.His836ThrfsTer136; NM_032108.4) is described in the article that expands our knowledge regarding the SEMA6B gene variants resulting in progressive myoclonus epilepsy.
在大多数情况下,SEMA6B 基因核苷酸序列变异是导致进行性肌阵挛癫痫表型的原因,其次是伴有或不伴有癫痫的发育性脑病。主要位于 SEMA6B 基因第 17 号外显子的核苷酸序列功能缺失变异导致产生具有 "毒性 "功能的异常蛋白质。文章描述了一例因 SEMA6B 基因变异(c.2506delС; p.His836ThrfsTer136; NM_032108.4)而导致状态性癫痫的临床病例,拓展了我们对 SEMA6B 基因变异导致进行性肌阵挛癫痫的认识。
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引用次数: 0
Cognitive impairment in patients with juvenile myoclonic epilepsy 幼年肌阵挛性癫痫患者的认知障碍
Q4 Medicine Pub Date : 2024-04-16 DOI: 10.17749/2077-8333/epi.par.con.2024.167
K. D. Lysova, I. K. Kuznetsov, A. I. Paramonova, A. A. Usoltseva, E. A. Kantimirova, N. A. Shnayder, D. V. Dmitrenko
Background. Сognitive impairment is one of the major epilepsy-related comorbidities. Upon long-term disease course, a decline in cognitive functions occurs in about 70–80% of cases. Juvenile myoclonic epilepsy (JME) is one of the most common forms of epilepsy (about 9.3%). Compared with other forms of idiopathic generalized epilepsy, JME is featured with high risk of seizures along with lowered patient compliance to treatment as well as a danger of developing drug resistance that may be a cause of cognitive disorder.Objective: to review research publications on cognitive impairment in JME, discuss its putative causes, describe neuropsychological profile for JME patients.Material and methods. The search was carried out in eLibrary, PubMed/MEDLINE, and Google Scholar databases using keywords and their combinations: “cognitive impairment”, “cognitive disorder”, “cognitive functions”, “neuropsychology”, “epilepsy”, “juvenile myoclonic epilepsy”, “JME”, “idiopathic generalized epilepsy”, “antiepileptic drugs”. We analyzed the articles published over the past 5 years and some earlier works of significant scientific interest. All articles were published in English or Russian languages.Results. A total of 895 articles were found in databases. Comprehensive screening, evaluation of full-text articles eligibility in accordance with the criteria for selecting and deleting duplicates allowed to include 3 scientific publications in Russian and 67 scientific publications in English in the literature review. The main causes of cognitive impairment in JME patients were analyzed followed by describing relevant neuropsychological profile. Diagnostic tools and current opportunities for correction of cognitive disfunctions were considered as well.Conclusion. The underlying causes of cognitive impairment in JME patients are multifactorial in nature and require further research. However, in this patient cohort prominent obstacles remain in identifying and timely correcting such disorders. Approving uniform diagnostic and therapeutic standards, developing rehabilitation methods for cognitive impairment in epilepsy will help improve the quality of life in JME patients.
背景。认知障碍是与癫痫相关的主要并发症之一。在长期病程中,约70-80%的病例会出现认知功能下降。青少年肌阵挛性癫痫(JME)是最常见的癫痫形式之一(约占9.3%)。与其他形式的特发性全身性癫痫相比,JME具有发作风险高、患者对治疗的依从性低以及产生耐药性的危险性等特点,而耐药性可能是认知障碍的原因。在 eLibrary、PubMed/MEDLINE 和 Google Scholar 数据库中使用关键词及其组合进行检索:"认知障碍"、"认知障碍"、"认知功能"、"神经心理学"、"癫痫"、"幼年肌阵挛性癫痫"、"JME"、"特发性全身性癫痫"、"抗癫痫药物"。我们分析了过去 5 年发表的文章和一些具有重要科学意义的早期作品。所有文章均以英语或俄语发表。在数据库中共找到 895 篇文章。根据选择和删除重复文章的标准,对全文进行了全面筛选和资格评估,从而将 3 篇俄文科学出版物和 67 篇英文科学出版物纳入文献综述。研究分析了造成JME患者认知障碍的主要原因,并对相关的神经心理学特征进行了描述。此外,还考虑了诊断工具和目前纠正认知功能障碍的机会。JME患者认知功能障碍的根本原因是多因素的,需要进一步研究。然而,在这一患者群体中,识别和及时纠正认知障碍仍存在突出障碍。制定统一的诊断和治疗标准,开发针对癫痫认知障碍的康复方法,将有助于提高JME患者的生活质量。
{"title":"Cognitive impairment in patients with juvenile myoclonic epilepsy","authors":"K. D. Lysova, I. K. Kuznetsov, A. I. Paramonova, A. A. Usoltseva, E. A. Kantimirova, N. A. Shnayder, D. V. Dmitrenko","doi":"10.17749/2077-8333/epi.par.con.2024.167","DOIUrl":"https://doi.org/10.17749/2077-8333/epi.par.con.2024.167","url":null,"abstract":"Background. Сognitive impairment is one of the major epilepsy-related comorbidities. Upon long-term disease course, a decline in cognitive functions occurs in about 70–80% of cases. Juvenile myoclonic epilepsy (JME) is one of the most common forms of epilepsy (about 9.3%). Compared with other forms of idiopathic generalized epilepsy, JME is featured with high risk of seizures along with lowered patient compliance to treatment as well as a danger of developing drug resistance that may be a cause of cognitive disorder.Objective: to review research publications on cognitive impairment in JME, discuss its putative causes, describe neuropsychological profile for JME patients.Material and methods. The search was carried out in eLibrary, PubMed/MEDLINE, and Google Scholar databases using keywords and their combinations: “cognitive impairment”, “cognitive disorder”, “cognitive functions”, “neuropsychology”, “epilepsy”, “juvenile myoclonic epilepsy”, “JME”, “idiopathic generalized epilepsy”, “antiepileptic drugs”. We analyzed the articles published over the past 5 years and some earlier works of significant scientific interest. All articles were published in English or Russian languages.Results. A total of 895 articles were found in databases. Comprehensive screening, evaluation of full-text articles eligibility in accordance with the criteria for selecting and deleting duplicates allowed to include 3 scientific publications in Russian and 67 scientific publications in English in the literature review. The main causes of cognitive impairment in JME patients were analyzed followed by describing relevant neuropsychological profile. Diagnostic tools and current opportunities for correction of cognitive disfunctions were considered as well.Conclusion. The underlying causes of cognitive impairment in JME patients are multifactorial in nature and require further research. However, in this patient cohort prominent obstacles remain in identifying and timely correcting such disorders. Approving uniform diagnostic and therapeutic standards, developing rehabilitation methods for cognitive impairment in epilepsy will help improve the quality of life in JME patients.","PeriodicalId":52318,"journal":{"name":"Epilepsy and Paroxysmal Conditions","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140695701","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
Postinfectious epilepsy: clinical and diagnostical features 感染后癫痫:临床和诊断特征
Q4 Medicine Pub Date : 2024-02-22 DOI: 10.17749/2077-8333/epi.par.con.2024.157
А. V. Vasilenko, А. Y. Ulitin, L. S. Onishchenko, N. Ananyeva, R. Grebenshchikova, О. N. Gaykova, А. V. Ivanenko, S. S. Kolosov, S. A. Turanov, S. V. Chudievich
Background. According to some authors, neuroinfection agents play a role in the development of several neurological disorders, including epilepsy. For many years, it was believed that acute infectious diseases, such as tick-borne encephalitis virus and meningococcus played a leading role in the emerging epileptic process of postinfectious etiology. Regarding a role for chronically persistent infections, it has not been fully explored.Objective: to identify clinical, diagnostic, and morphological features of locally induced postinfectious epilepsy, both at disease onset upon emergence of the first epileptic seizures during acute infectious process and during their recurrence in a chronically persistent infection.Material and methods. The study included observations of 1500 patients with locally induced epilepsy admitted and treated from 2007 to 2017 in various medical inpatient and outpatient institutions. Post-infection locally induced epilepsy with clear causality link between previous neuroinfection and onset of epileptic seizure was found in 127 patients (Group 1). During initial visits, infectious agents in a cohort of patients with recurrent epileptic seizures manifested as chronic persistent infection were suspected in more than 1/3 of the 1373 subjects who sought medical aid comprising 550 people (Group 2). In addition to the clinical evaluation of patients, instrumental studies were performed, including routine electroencephalography (EEG), sleep video-EEG monitoring, magnetic resonance imaging (MRI), and some patients underwent pathomorphological examination using electron microscopy and histological techniques.Results. Gross and marked diffuse disturbances in brain bioelectrical activity were most often detected (58% and 31%, respectively) during video-EEG monitoring in Group 1, whereas moderate alterations were recorded less frequently (11% of observations). In Group 2, the majority of diffuse disturbances in brain bioelectrical activity were of moderate level (79%) followed by mild and irritative changes recorded less frequently (in 21% of cases). MRI data showed that disorders of the amygdala-hippocampal system were observed in 41 (32%) and 211 (38%) patients in Groups 1 and 2, respectively. Histological and electron microscopic data revealed a number of morphological disorders in patients with locally induced postinfectious epilepsy common with earlier described mitochondrial encephalomyopathies (mitochondrial megaconia and pleioconia) as well as a set of specific manifestations typical to such pathology.Conclusion. The conducted clinical, neurophysiological, neuroimaging, and pathomorphological studies of postinfectious epilepsy revealed specific features underlying its development at different stages, from its onset in acute infectious process to chronization in persistent infection. It was found that a comprehensive analysis of the presence and impact of infectious agents in patients with epileptic seizures is important for cours
背景。一些学者认为,神经感染因子在包括癫痫在内的多种神经系统疾病的发病过程中起着一定的作用。多年来,人们一直认为急性传染病,如蜱传脑炎病毒和脑膜炎球菌,在新出现的感染后病因性癫痫过程中起主导作用。目的:确定局部诱发的感染后癫痫的临床、诊断和形态特征,包括急性感染过程中首次癫痫发作时的发病特征和慢性持续性感染中癫痫复发时的发病特征。研究包括对 2007 年至 2017 年期间在各医疗住院和门诊机构收治的 1500 名局部诱发癫痫患者的观察。在127名患者(第1组)中发现,感染后局部诱发的癫痫与之前的神经感染和癫痫发作之间存在明确的因果关系。在初次就诊时,1373 名求医者中有 550 人(第 2 组),其中超过三分之一的患者癫痫反复发作,表现为慢性持续性感染。除了对患者进行临床评估外,还进行了仪器检查,包括常规脑电图(EEG)、睡眠视频脑电图监测、磁共振成像(MRI),部分患者还接受了电子显微镜和组织学技术的病理形态学检查。在第 1 组的视频脑电图监测中,最常发现大脑生物电活动的严重和明显弥漫性紊乱(分别占 58% 和 31%),而中度改变的记录较少(占观察的 11%)。在第 2 组中,大脑生物电活动的弥漫性紊乱大多为中度(79%),其次是轻度和刺激性变化(21%)。核磁共振成像数据显示,第 1 组和第 2 组分别有 41 例(32%)和 211 例(38%)患者出现杏仁核-海马系统紊乱。组织学和电子显微镜数据显示,局部诱发的感染后癫痫患者出现了一些与早先描述的线粒体脑omyopathies(线粒体巨核细胞增多症和褶皱性巨核细胞增多症)相同的形态学紊乱,以及一系列典型的特殊表现。对感染后癫痫进行的临床、神经生理学、神经影像学和病理形态学研究揭示了从急性感染过程中的发病到持续感染中的慢性化等不同阶段的发病特点。研究发现,全面分析癫痫发作患者中是否存在感染因素及其影响对于感染后癫痫的病程和预后非常重要,这对于及时诊断和制定特定的药物治疗非常重要。
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引用次数: 0
Description of technical characteristics for EEG equipment and their comparison for electroencephalographs available in Russia 描述脑电图设备的技术特点及其与俄罗斯现有脑电图机的比较
Q4 Medicine Pub Date : 2023-12-23 DOI: 10.17749/2077-8333/epi.par.con.2023.170
А. А. Ivanov
The current study was aimed at providing a detailed description of the major technical characteristics for electroencephalographic (EEG) equipment and their impact on quality of the recorded signal. Understanding the importance of the recording equipmenttechnical parameters will help medical professionals make the right choice while purchasing new equipment as well as correctly set the necessary recording parameters to ensure the maximum possible quality of EEG signal. In addition, the technical characteristics for EEG equipment available in Russia were compared. Such a comparison became possible after the full package of documents for registered medical equipment including data on relevant technical parameters began to be published at the Roszdravnadzor website since 2023.
本研究旨在详细描述脑电图(EEG)设备的主要技术特征及其对记录信号质量的影响。了解记录设备技术参数的重要性将有助于医疗专业人员在购买新设备时做出正确选择,并正确设置必要的记录参数,以确保尽可能高的脑电信号质量。此外,还对俄罗斯现有脑电图设备的技术特性进行了比较。自 2023 年开始在俄罗斯国家技术监督局(Roszdravnadzor)网站上公布包括相关技术参数数据在内的注册医疗设备全套文件后,这种比较成为可能。
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引用次数: 0
Clinical features of developmental and epileptic encephalopathy caused by KCNQ2 gene mutation KCNQ2 基因突变导致的发育性和癫痫性脑病的临床特征
Q4 Medicine Pub Date : 2023-12-22 DOI: 10.17749/2077-8333/epi.par.con.2023.171
А. G. Malov, Т. P. Kalashnikova, N. А. Vdovina
Current classification of epileptic syndromes proposed in 2022 by the International League Against Epilepsy, developmental and epileptic encephalopathy (DEE) caused by mutation in the KCNQ2 gene is identified as an independent nosological form. Alternative names for this disease are DEE type 7 or early infantile epileptic encephalopathy type 7 (OMIM: 613720). The article presents a brief literature review on the topic as well as our personal clinical observation of this rare pathology.
国际抗癫痫联盟(International League Against Epilepsy)于 2022 年提出了当前的癫痫综合征分类法,将 KCNQ2 基因突变导致的发育性癫痫性脑病(DEE)确定为一种独立的命名形式。这种疾病的另一个名称是 DEE 7 型或早期婴儿癫痫性脑病 7 型(OMIM: 613720)。文章简要回顾了相关文献以及我们个人对这种罕见病症的临床观察。
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引用次数: 0
Etiopathogenetic mechanisms of epilepsy and comparative characteristics of audiogenic epilepsy experimental models 癫痫的病因机制和致听性癫痫实验模型的比较特征
Q4 Medicine Pub Date : 2023-12-22 DOI: 10.17749/2077-8333/epi.par.con.2023.161
Е. D. Bazhanova, А. А. Kozlov, Y. O. Sokolova
Epilepsy is a widespread neurological chronic disease characterized by recurrent seizures, manifested as short-term partial or generalized convulsions and accompanied by loss of consciousness. To correctly select a treatment method for epilepsy, it is necessary to investigate the cues resulting in its development, but it is not always possible to identify a cause of the disease and chose proper treatment. Drug resistance remains one of the major issues in treatment of epilepsy, despite a great body of studies describing its nature. In this regard, it is necessary to select a model for examining epileptic seizures and underlying mechanisms, searching for genes involved in regulation of epilepsy as well as assessing effectiveness and safety of new antiepileptic drugs. It was noted that rodents, especially Krushinsky–Molodkina rat strain represent a suitable genetic model for audiogenic epilepsy to dissect the mechanisms of epileptogenesis, genetic basis of seizure susceptibility, development of drug resistance, and testing new antiepileptic drugs. Despite that the audiogenic form of reflex epilepsy is quite rare in humans, it was revealed that the same underlying genes, molecular mechanisms and signaling pathways are responsible for enabling audiogenic seizures in rodents and human epilepsy, additionally coupled to developing similar neuroanatomical anomalies.
癫痫是一种广泛存在的神经系统慢性疾病,以反复发作为特征,表现为短期部分或全身抽搐,并伴有意识丧失。要正确选择治疗癫痫的方法,就必须调查导致癫痫发病的线索,但并非总能找到病因并选择适当的治疗方法。尽管有大量研究描述了抗药性的性质,但抗药性仍是癫痫治疗的主要问题之一。在这方面,有必要选择一种模型来研究癫痫发作及其内在机制,寻找参与癫痫调控的基因,以及评估新抗癫痫药物的有效性和安全性。研究指出,啮齿类动物,尤其是克鲁辛斯基-莫洛金娜大鼠品系,是听源性癫痫的合适遗传模型,可用于剖析癫痫发生机制、癫痫易感性的遗传基础、耐药性的产生以及测试新的抗癫痫药物。尽管听源性反射性癫痫在人类中相当罕见,但研究发现,啮齿类动物和人类癫痫的听源性癫痫发作是由相同的潜在基因、分子机制和信号通路引起的,此外还伴有类似的神经解剖异常。
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引用次数: 0
期刊
Epilepsy and Paroxysmal Conditions
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