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Quantitative analysis of the resting-state EEG power spectrum in patients with epilepsy comorbid with anxiety and depression. 癫痫伴焦虑抑郁患者静息状态脑电图功率谱定量分析。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-03-31 DOI: 10.1186/s42494-025-00206-6
Hongxing Chen, Juan Yang, Bo Zhang, Lijia Zhang, Jing Wang, Haiqing Zhang, Hongwei Zhang, Changyin Yu, Jun Zhang, Zucai Xu

Background: Epilepsy is one of the common clinical disorders with comorbid anxiety and depression that severely affects their quality of life and increases their suicidality, while screening for anxiety and depression currently lacks objective identifiers. This study aimed to analyze the characteristics of the electroencephalogram (EEG) power spectrum in patients with epilepsy with comorbid anxiety and depression, utilizing resting EEG data.

Methods: Resting EEG data were collected under standard conditions from two groups: patients with epilepsy comorbid with anxiety and depression (n = 42) and patients without comorbidities (n = 45). EEG power was calculated using data processing with EEGLAB and MATLAB. This study compared the absolute and relative powers of the δ, θ, α, β, and γ frequency bands, as well as the values of (δ + θ)/(α + β), between the two groups. Additionally, the correlation between the EEG power of each frequency band and anxiety and depression scores was analyzed.

Results: 1) Among individuals with epilepsy comorbid with anxiety and depression, lower absolute power of δ, α, and θ at specific sites was observed (P < 0.05), along with lower relative power of θ at certain sites (P < 0.05). Conversely, higher relative power of β and γ at specific sites was noted in those with comorbidities (P < 0.05). 2) There was no statistically significant difference in the values of (δ + θ)/(α + β) between the two groups (P > 0.05). 3) Depression scores exhibited a negative correlation with θ absolute power at the T3 and T4 sites (P < 0.05), while showing a positive correlation with β relative power at the C4 and T6 sites (P < 0.05). Anxiety scores displayed a positive correlation with β relative power at the F4, C3, C4 and T6 sites and γ relative power at F8 site (P < 0.05).

Conclusions: The findings suggest that comorbid anxiety and depression may impact resting EEG power spectra in individuals with epilepsy, particularly in regions exhibiting altered network connectivity. Furthermore, a positive correlation was observed between anxiety and depression scores and β relative power in the right central and right posterior temporal regions, indicating potential screening utility.

背景:癫痫是临床上常见的伴有焦虑和抑郁的疾病之一,严重影响其生活质量,增加其自杀倾向,而焦虑和抑郁的筛查目前缺乏客观的标识。本研究旨在利用静息脑电图数据分析癫痫伴发焦虑和抑郁患者的脑电图功率谱特征。方法:在标准条件下采集癫痫伴焦虑抑郁患者(n = 42)和无伴焦虑抑郁患者(n = 45)的静息脑电图数据。利用EEGLAB和MATLAB进行数据处理,计算脑电功率。本研究比较了两组间δ、θ、α、β、γ频段的绝对功率和相对功率,以及(δ + θ)/(α + β)值。分析各频带脑电功率与焦虑抑郁评分的相关性。结果:1)癫痫合并焦虑、抑郁患者特定部位δ、α、θ的绝对功率较低(P < 0.05)。3)抑郁评分与T3和T4部位θ绝对功率呈负相关(P)。结论:焦虑和抑郁共病可能影响癫痫患者静息脑电图功率谱,特别是在网络连接改变的区域。此外,焦虑和抑郁评分与右侧中央和右侧后颞区的β相对功率呈正相关,表明潜在的筛查效用。
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引用次数: 0
Prevalence of active convulsive epilepsy in Dunukofia County in South East Nigeria: a door-to-door survey. 尼日利亚东南部Dunukofia县活动性惊厥癫痫的患病率:一项挨家挨户的调查。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-03-24 DOI: 10.1186/s42494-024-00200-4
Obiora Daniel Anaje, Paul Osemeke Nwani, Maduaburochukwu C Nwosu, Lasbrey Azuoma Asomugha, Chetanna Chioma Anaje, Ifeoma Adaigwe Amaechi, Uzoamaka Nwakaego Akobundu, Olisaeloka Ginikachi Ebeogu, Linda Ifunanya Eze, Nnamdi Joseph Morah, Sunday Onyemaechi Oriji, Chinwe Chioma Ndukwe, Imelda Chinenye Omaga, Adesola Ogunniyi

Background: Regional variations in the prevalence of epilepsy in Nigeria have been validated. We determined the prevalence of active convulsive epilepsy in six towns of Dunukofia County and compared the findings with existing regional prevalence data.

Methods: Patients with active convulsive epilepsy were identified in a two-phase cross-sectional descriptive community-based door-to-door study using a validated questionnaire in the first phase and a modified epilepsy questionnaire developed for tropical countries in the second phase after clinical assessment and electroencephalogram.

Results: A total of 9000 persons were surveyed in the first stage, of which 56 had active convulsive epilepsy. The highest point prevalence was found in Nawgu, 7.3 per 1000 (95% confidence interval [CI]: 2.7-15.8) while the lowest point prevalence of 5.0 per 1000 (95% CI: 2.0-10.3) was obtained in Ukpo. The observed rates after age adjustment to the Nigeria standard population of 4.9-5.7 per 1000 in this study, which was comparable to 4.6-5.7 per 1000 reported in previous studies, besides two isolated reports of rates as low as 2.7 per 1000 and as high as 20.0 per 1000 reported in the past from two sites in the northern section of the region.

Conclusions: The burden of epilepsy is high in this region, and intra-regional differences in prevalence rates exist. The implications of this finding do not only border on the care of people living with epilepsy but also highlight the need to identify local risk factors as well as appropriate and locally acceptable approaches to reduce the epilepsy burden.

背景:尼日利亚癫痫患病率的区域差异已得到证实。我们确定了Dunukofia县六个镇的活动性惊厥癫痫患病率,并将结果与现有的区域患病率数据进行了比较。方法:在一项两阶段的横断面描述性社区挨家挨户研究中确定活动性惊厥癫痫患者,第一阶段使用经验证的问卷,第二阶段使用经临床评估和脑电图检查后为热带国家开发的改良癫痫问卷。结果:第一阶段共调查9000例,其中56例为活动性惊厥癫痫。Nawgu的最高点患病率为7.3 / 1000(95%可信区间[CI]: 2.7-15.8), Ukpo的最低点患病率为5.0 / 1000(95%可信区间:2.0-10.3)。本研究中观察到的尼日利亚标准人口年龄调整后的发病率为每1000人4.9-5.7人,与以往研究报告的每1000人4.6-5.7人相当,此外,该地区北部两个地点过去报告的发病率低至每1000人2.7人,高至每1000人20.0人。结论:该地区癫痫负担高,地区内患病率存在差异。这一发现的影响不仅涉及对癫痫患者的护理,而且还强调需要确定当地的风险因素以及当地可接受的适当方法来减少癫痫负担。
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引用次数: 0
The efficacy of cannabidiol for seizures reduction in pharmacoresistant epilepsy: a systematic review and meta-analysis. 大麻二酚对减少抗药癫痫发作的疗效:一项系统综述和荟萃分析。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-03-17 DOI: 10.1186/s42494-024-00191-2
Vinícius Gabino de Oliveira, Natália Brito de Almeida, Guilherme Corrêa Radmann, Bruno Fernandes de Oliveira Santos

Background: Epilepsy is a neurological syndrome caused by excessive neuronal discharges, with a part of the patients being pharmacoresistant to the traditional treatment. Cannabidiol, a non-psychoactive component of Cannabis Sativa, shows promise as an alternative, but further research is needed to quantify its efficacy.

Methods: This literature systematic review was made following the PRISMA protocol guidelines. The Google Scholar, Scielo, and PubMed/MEDLINE databases were included using the descriptors "Cannabidiol", "Epilepsy", and "Drug Resistant Epilepsy". This research was registered in the Prospero platform with the identification (CRD42024479643).

Results: A total of 1448 results were identified from the PubMed, Virtual Health Library, and Google Scholar databases. After applying exclusion criteria, six studies met the criteria for full-text evaluation and eligibility. The compiled analysis showed that the patients who received cannabidiol experienced a 41.0875% reduction in the total number of seizures, compared to an average reduction of 18.1% in placebo groups. This represents a 127% higher response rate for patients who received the intervention.

Conclusions: Given these results, it is possible to conclude that the therapeutic response of cannabidiol is worthy of consideration in new protocols and of being added to public healthcare systems for its antiepileptic potential. However, the high efficacy rate observed in the placebo group suggests that other methods of data collection analysis may be employed.

背景:癫痫是一种由神经元放电过多引起的神经系统综合征,部分患者对传统治疗具有耐药性。大麻二酚是大麻的一种非精神活性成分,有望成为一种替代品,但需要进一步的研究来量化其功效。方法:按照PRISMA方案指南进行文献系统综述。谷歌Scholar、Scielo和PubMed/MEDLINE数据库使用描述符“Cannabidiol”、“Epilepsy”和“Drug Resistant Epilepsy”纳入。本研究在普洛斯彼罗平台注册,识别号为CRD42024479643。结果:共从PubMed、Virtual Health Library和谷歌Scholar数据库中确定了1448个结果。应用排除标准后,6项研究符合全文评价和入选标准。汇总分析显示,接受大麻二酚治疗的患者癫痫发作次数减少了41.0875%,而安慰剂组的癫痫发作次数平均减少了18.1%。这表明接受干预的患者的应答率提高了127%。结论:鉴于这些结果,有可能得出结论,大麻二酚的治疗反应值得在新的方案中考虑,并因其抗癫痫潜力而被添加到公共卫生系统中。然而,在安慰剂组观察到的高有效率表明,可以采用其他数据收集分析方法。
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引用次数: 0
Research progress of connexins in epileptogensis. 连接蛋白在癫痫发生中的研究进展。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-03-15 DOI: 10.1186/s42494-025-00203-9
Jiaqi Wang, Suhui Kuang, Zhirong Wei, Shuli Liang

Epilepsy, a chronic neurological disorder, is characterized by dysfunction in neural networks. Gap junctions and hemichannels, which are integral to the astrocyte connection network, play a critical role in epilepsy. Connexins, the components of astrocyte gap junctions and hemichannels, can be activated to transfer glutamate, adenosine triphosphate, and other chemicals, potentially leading to seizures. Connexins therefore hold significant potential for epilepsy treatment. This review focuses on connexin 43 and provides a brief overview of other connexins and pannexin 1. Understanding the relationship between connexins and epilepsy offers theoretical support for developing new antiseizure medications.

癫痫是一种慢性神经系统疾病,其特征是神经网络功能障碍。间隙连接和半通道是星形胶质细胞连接网络的组成部分,在癫痫中起着关键作用。连接蛋白是星形胶质细胞间隙连接和半通道的组成部分,可以被激活来转移谷氨酸、三磷酸腺苷和其他化学物质,可能导致癫痫发作。因此,连接蛋白在癫痫治疗方面具有巨大的潜力。本文主要综述了连接蛋白43,并简要介绍了其他连接蛋白和pannexin 1。了解连接蛋白与癫痫之间的关系为开发新的抗癫痫药物提供了理论支持。
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引用次数: 0
Inhalation of 5% CO2 and activation of ASIC1a: a potential therapeutic approach for Dravet syndrome. 吸入5% CO2和激活ASIC1a:一种治疗Dravet综合征的潜在方法。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-03-06 DOI: 10.1186/s42494-025-00204-8
Qian Lu, Qi Zhang, Yangyang Wang, Jia Wang, Haiqing Zhao, Qiuhong Wang, Liping Zou

Background: Preferential activation of Acid-sensing ion channel 1a (ASIC1a) by acidosis promotes seizure termination. Studies have found that CO2 can reduce neuronal excitability and inhibit seizure activity. Dravet syndrome (DS) is a severe and catastrophic form of epilepsy primarily caused by monoallelic loss-of-function mutations in the SCN1A gene. Patients with DS suffer from frequent seizures, which can be triggered by fever and are often resistant to anti-seizure medications. Thus, this study aimed to explore the effect of inhaling 5% CO2 and activating ASIC1a against hyperthermia-induced seizures in a mouse model of DS (Scn1a+/-).

Methods: Mice aged postnatal day 18-28 were divided into four groups: wild type (WT) + air, Scn1a+/- + air, WT + CO2, and Scn1a+/- + CO2. Hyperthermia-induced seizures were performed 60 min after gas inhalation. Neuronal damage was assessed using Nissl staining, whereas ASIC1a expression was evaluated through Western blot and immunofluorescence staining.

Results: In the hyperthermia-induced seizure tests, no seizures occurred in WT mice. All mice in the Scn1a+/- + air groups experienced seizures. In the Scn1a+/- + CO2 group, all but one mouse had seizures. CO2 inhalation shortened the duration of seizures in Scn1a+/- mice, improved electroencephalogram discharge patterns, and reduced neuronal damage in the hippocampus. The ASIC1a protein was mainly expressed in hippocampal neurons, with minor expression observed in astrocytes. The level of hippocampal ASIC1a increased in the Scn1a+/- + CO2 mice.

Conclusions: After CO2 inhalation, the expression of the ASIC1a protein in the hippocampus increased, the duration of hyperthermia-induced seizures was reduced in Scn1a+/- mice, and the damage to hippocampal neurons was alleviated.

背景:酸中毒对酸敏感离子通道1a (ASIC1a)的优先激活促进癫痫发作终止。研究发现,二氧化碳可以降低神经元的兴奋性,抑制癫痫发作活动。Dravet综合征(DS)是一种严重的灾难性癫痫,主要由SCN1A基因的单等位基因功能丧失突变引起。退行性椎体滑移症患者会频繁发作,这可能是由发烧引起的,而且通常对抗癫痫药物有抗药性。因此,本研究旨在探讨吸入5% CO2并激活ASIC1a对DS小鼠模型(Scn1a+/-)高热诱导癫痫发作的影响。方法:将出生后18 ~ 28天的小鼠分为野生型(WT) +空气组、Scn1a+/- +空气组、WT + CO2组和Scn1a+/- + CO2组。吸入气体60 min后进行高温致癫痫发作。采用尼氏染色评估神经元损伤,采用Western blot和免疫荧光染色评估ASIC1a表达。结果:在高温致癫痫发作试验中,WT小鼠未发生癫痫发作。Scn1a+/- +空气组的所有小鼠都出现了癫痫发作。在Scn1a+/- + CO2组中,除一只小鼠外,其余小鼠均有癫痫发作。吸入二氧化碳可缩短Scn1a+/-小鼠的癫痫发作时间,改善脑电图放电模式,减少海马神经元损伤。ASIC1a蛋白主要在海马神经元中表达,少量在星形胶质细胞中表达。Scn1a+/- + CO2小鼠海马ASIC1a水平升高。结论:吸入CO2后,Scn1a+/-小鼠海马ASIC1a蛋白表达增加,高热致癫痫发作持续时间缩短,海马神经元损伤减轻。
{"title":"Inhalation of 5% CO<sub>2</sub> and activation of ASIC1a: a potential therapeutic approach for Dravet syndrome.","authors":"Qian Lu, Qi Zhang, Yangyang Wang, Jia Wang, Haiqing Zhao, Qiuhong Wang, Liping Zou","doi":"10.1186/s42494-025-00204-8","DOIUrl":"https://doi.org/10.1186/s42494-025-00204-8","url":null,"abstract":"<p><strong>Background: </strong>Preferential activation of Acid-sensing ion channel 1a (ASIC1a) by acidosis promotes seizure termination. Studies have found that CO<sub>2</sub> can reduce neuronal excitability and inhibit seizure activity. Dravet syndrome (DS) is a severe and catastrophic form of epilepsy primarily caused by monoallelic loss-of-function mutations in the SCN1A gene. Patients with DS suffer from frequent seizures, which can be triggered by fever and are often resistant to anti-seizure medications. Thus, this study aimed to explore the effect of inhaling 5% CO<sub>2</sub> and activating ASIC1a against hyperthermia-induced seizures in a mouse model of DS (Scn1a<sup>+/-</sup>).</p><p><strong>Methods: </strong>Mice aged postnatal day 18-28 were divided into four groups: wild type (WT) + air, Scn1a<sup>+/-</sup> + air, WT + CO<sub>2</sub>, and Scn1a<sup>+/-</sup> + CO<sub>2</sub>. Hyperthermia-induced seizures were performed 60 min after gas inhalation. Neuronal damage was assessed using Nissl staining, whereas ASIC1a expression was evaluated through Western blot and immunofluorescence staining.</p><p><strong>Results: </strong>In the hyperthermia-induced seizure tests, no seizures occurred in WT mice. All mice in the Scn1a<sup>+/-</sup> + air groups experienced seizures. In the Scn1a<sup>+/-</sup> + CO<sub>2</sub> group, all but one mouse had seizures. CO<sub>2</sub> inhalation shortened the duration of seizures in Scn1a<sup>+/-</sup> mice, improved electroencephalogram discharge patterns, and reduced neuronal damage in the hippocampus. The ASIC1a protein was mainly expressed in hippocampal neurons, with minor expression observed in astrocytes. The level of hippocampal ASIC1a increased in the Scn1a<sup>+/-</sup> + CO<sub>2</sub> mice.</p><p><strong>Conclusions: </strong>After CO<sub>2</sub> inhalation, the expression of the ASIC1a protein in the hippocampus increased, the duration of hyperthermia-induced seizures was reduced in Scn1a<sup>+/-</sup> mice, and the damage to hippocampal neurons was alleviated.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"19"},"PeriodicalIF":1.2,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960217/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144022351","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}
引用次数: 0
Whether radiofrequency thermocoagulation guided by stereotactic electroencephalography can benefit drug-resistant epilepsy in the early follow-up stage. 立体定向脑电图引导下的射频热凝治疗对耐药癫痫早期随访是否有益。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-03-05 DOI: 10.1186/s42494-025-00207-5
Jingtao Yan, Yuhao Wang, Le Wang, Weipeng Jin, Chuan Du, Guangfeng Li, Deqiu Cui, Shaoya Yin

Background: Stereotactic electroencephalography (SEEG) has emerged as a widely utilized diagnostic approach in epilepsy surgery, demonstrating broad clinical applications and a favorable safety profile. SEEG, when combined with radiofrequency thermocoagulation (RF-TC), facilitates the identification of epileptogenic zones and serves as a therapeutic option that eliminates the need for general anesthesia, thus incuring no additional costs for patients. This study aimed to investigate whether SEEG-guided RF-TC provides early therapeutic benefits.

Methods: A retrospective analysis was performed on 44 patients with drug-resistant epilepsy who underwent RF-TC treatment between April 2019 and December 2022, with complete follow-up data available. RF-TC was administered after the recording three or more habitual epileptic seizures in all patients. Demographic characteristics were retrospectively assessed, and treatment outcomes were evaluated using the Engel classification system.

Results: SEEG-guided RF-TC treatment was successfully performed in all patients without significant neurological complications. An average of 7.7 ± 0.4 electrodes were implanted per patient, with a SEEG monitoring duration of 7.5 days (range: 6.8-11). Follow-up after thermocoagulation ranged from 9 to 63 months. At the three-month follow-up, 56.8% of patients achieved Engel I (11 cases) and II (14 cases) were included. At the six-month follow-up, 40.9% of patients achieved Engel grades I (9 cases) and II (9 cases), with five patients proceeding to surgical treatment. By the 12-month follow-up, 40.9% of patients reached Engel grades I (5 cases) and II (13 cases), with a cumulative total of 12 patients undergoing surgical intervention. At the 24-month follow-up, 20.5% of patients achieved Engel grades I (3 cases) and II (6 cases), resulting in a cumulative total of 16 patients undergoing surgical treatment. A statistically significant reduction in seizure frequency was observed before and after thermocoagulation in all 44 patients (P = 0.007), although the therapeutic effect of thermocoagulation decreased over time.

Conclusions: SEEG-guided RF-TC is a safe and effective treatment modality for drug-resistant epilepsy. However, as follow-up duration increases, both seizure-free rates and response rates following RF-TC progressively decline.

背景:立体定向脑电图(SEEG)已成为一种广泛应用于癫痫手术的诊断方法,具有广泛的临床应用和良好的安全性。SEEG与射频热凝(RF-TC)相结合,有助于识别癫痫发生区域,并作为一种治疗选择,消除了全身麻醉的需要,因此不会给患者带来额外费用。本研究旨在探讨seeg引导的RF-TC是否能提供早期治疗益处。方法:回顾性分析2019年4月至2022年12月接受RF-TC治疗的44例耐药癫痫患者,随访资料完整。在所有患者记录三次或三次以上习惯性癫痫发作后给予RF-TC。回顾性评估人口统计学特征,并使用Engel分类系统评估治疗结果。结果:所有患者均成功进行了seeg引导下的RF-TC治疗,无明显神经系统并发症。平均每例患者植入7.7±0.4个电极,SEEG监测持续时间为7.5天(范围:6.8-11天)。热凝术后随访9 ~ 63个月。随访3个月,达到Engel I(11例)和II(14例)的患者占56.8%。随访6个月,40.9%的患者达到Engel I级(9例)和II级(9例),其中5例进行手术治疗。随访12个月,40.9%的患者达到Engel I级(5例)和II级(13例),累计12例患者接受手术干预。随访24个月,20.5%的患者达到Engel I级(3例)和II级(6例),累计16例患者接受手术治疗。44例患者在热凝治疗前后癫痫发作频率均有统计学意义的降低(P = 0.007),尽管热凝治疗的效果随着时间的推移而降低。结论:seeg引导的RF-TC是一种安全有效的治疗耐药癫痫的方式。然而,随着随访时间的增加,RF-TC后的无癫痫发作率和缓解率逐渐下降。
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引用次数: 0
Dissociative seizures mimicking epileptic seizures: diagnostic challenges in a case with atypical eye movements. 解离性癫痫发作模拟癫痫发作:诊断挑战的情况下,非典型的眼球运动。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-03-04 DOI: 10.1186/s42494-025-00210-w
Shimin Bao, Caleb Onyenaturuchi Egbuta, Jinmei Li

Background: Dissociative seizures (DS), also known as psychogenic non-epileptic seizures (PNES), often mimic epileptic seizures (ES), leading to misdiagnosis, unnecessary anti-seizure medications (ASMs)/ suboptimal use of ASMs, and delays in appropriate care in approximately one-third of patients. Rare presentations, such as episodes resembling oculogyric crisis (OGC), further complicate differentiation. This report highlights the diagnostic challenges of DS with atypical features and emphasises the role of video-electroencephalogram (VEEG) in early differentiation.

Case presentation: We present a 16-year-old male with recurrent episodes of upward eye deviation, non-synchronised limb twitching, and bizarre behaviours, initially misdiagnosed as epilepsy and autoimmune encephalitis. Comprehensive investigations, including normal neuroimaging, absence of epileptiform activity on VEEG, and psychological evaluation revealing moderate depression, supported a diagnosis of DS. The patient showed significant improvement with sertraline and cognitive behavioural therapy.

Conclusions: This case underscores the diagnostic challenges posed by atypical DS presentations and highlights the value of/need for VEEG and psychiatric evaluation in differentiation. Early identification of DS can prevent mismanagement and optimize outcomes.

背景:解离性癫痫发作(DS),也称为心因性非癫痫性癫痫发作(PNES),通常与癫痫发作(ES)相似,导致误诊,不必要的抗癫痫药物(asm)/抗癫痫药物使用不理想,以及大约三分之一的患者延迟适当的治疗。罕见的表现,如类似眼部危象(OGC)的发作,使鉴别更加复杂。本报告强调了具有非典型特征的退行性椎体滑移的诊断挑战,并强调了视频脑电图(VEEG)在早期鉴别中的作用。病例介绍:我们报告一名16岁男性,反复发作的上斜眼,非同步肢体抽搐,和奇怪的行为,最初被误诊为癫痫和自身免疫性脑炎。综合调查,包括正常的神经影像学,VEEG没有癫痫样活动,心理评估显示中度抑郁,支持退行性椎体滑移的诊断。患者经舍曲林和认知行为治疗后病情有明显改善。结论:本病例强调了非典型退行性椎体滑移的诊断挑战,并强调了VEEG和精神病学评估在鉴别中的价值和必要性。早期识别退行性痴呆可以防止管理不善和优化结果。
{"title":"Dissociative seizures mimicking epileptic seizures: diagnostic challenges in a case with atypical eye movements.","authors":"Shimin Bao, Caleb Onyenaturuchi Egbuta, Jinmei Li","doi":"10.1186/s42494-025-00210-w","DOIUrl":"https://doi.org/10.1186/s42494-025-00210-w","url":null,"abstract":"<p><strong>Background: </strong>Dissociative seizures (DS), also known as psychogenic non-epileptic seizures (PNES), often mimic epileptic seizures (ES), leading to misdiagnosis, unnecessary anti-seizure medications (ASMs)/ suboptimal use of ASMs, and delays in appropriate care in approximately one-third of patients. Rare presentations, such as episodes resembling oculogyric crisis (OGC), further complicate differentiation. This report highlights the diagnostic challenges of DS with atypical features and emphasises the role of video-electroencephalogram (VEEG) in early differentiation.</p><p><strong>Case presentation: </strong>We present a 16-year-old male with recurrent episodes of upward eye deviation, non-synchronised limb twitching, and bizarre behaviours, initially misdiagnosed as epilepsy and autoimmune encephalitis. Comprehensive investigations, including normal neuroimaging, absence of epileptiform activity on VEEG, and psychological evaluation revealing moderate depression, supported a diagnosis of DS. The patient showed significant improvement with sertraline and cognitive behavioural therapy.</p><p><strong>Conclusions: </strong>This case underscores the diagnostic challenges posed by atypical DS presentations and highlights the value of/need for VEEG and psychiatric evaluation in differentiation. Early identification of DS can prevent mismanagement and optimize outcomes.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"15"},"PeriodicalIF":1.2,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960236/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051075","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}
引用次数: 0
Alternations in morphometric similarity network in mesial temporal epilepsy correlate to neuroinflammatory pathway gene transcriptions. 内侧颞叶癫痫中形态相似性网络的改变与神经炎症通路基因转录相关。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-03-04 DOI: 10.1186/s42494-025-00208-4
Lu Lu, Chenyang Zhao, Weihao Liao, Peiyu Wang, Yingying Zhang, Dongmei An, Xintong Wu, Hesheng Zhang, Ping Jiang, Yaohui He, Jinpeng Niu, Wei Li, Kangjia Chen, Su Lui, Yu Zhao, Qiyong Gong, Bo Wang, Wei Liao, Josemir W Sander, Lin Chen, Dong Zhou

Background: Mesial temporal lobe epilepsy (mTLE) is the most common form of focal epilepsy, often associated with hippocampal sclerosis. Increasing evidence suggests the pivotal role of neuroinflammation in mTLE onset and progression.

Methods: We used morphometric similarity network (MSN) analysis and the Allen Human Brain Atlas (AHBA) database to investigate structural changes between mTLE and healthy controls, as well as correlation with inflammation-related gene expression.

Results: We identified widespread alterations across the frontal and parietal lobes and cingulate cortex linked to neuroinflammatory genes such as PRR5, SMAD3, and IRF3. This correlation was even more pronounced in mTLE patients with hippocampal sclerosis compared to those without. Enrichment analysis highlighted pathways related to neurodevelopment and neurodegeneration, supporting a bidirectional link between mTLE and neurodegenerative diseases.

Conclusions: These findings suggest that brain-wide macroscopic morphometric alternations in mTLE are correlated to the neuroinflammation process. It provides circumstantial evidence from a new perspective to support the bidirectional link between mTLE and neurodegenerative diseases.

背景:内侧颞叶癫痫(mTLE)是局灶性癫痫最常见的形式,通常与海马硬化有关。越来越多的证据表明,神经炎症在mTLE的发病和进展中起着关键作用。方法:采用形态学相似性网络(MSN)分析和Allen人脑图谱(AHBA)数据库研究mTLE与健康对照组的结构变化及其与炎症相关基因表达的相关性。结果:我们确定了与神经炎症基因(如PRR5、SMAD3和IRF3)相关的前额叶、顶叶和扣带皮层的广泛改变。与没有海马硬化的mTLE患者相比,这种相关性更为明显。富集分析强调了与神经发育和神经退行性疾病相关的通路,支持mTLE与神经退行性疾病之间的双向联系。结论:这些发现提示mTLE的全脑宏观形态学改变与神经炎症过程相关。从一个新的角度为mTLE与神经退行性疾病之间的双向联系提供了间接证据。
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引用次数: 0
MDN1 variants cause susceptibility to epilepsy : For the China Epilepsy Gene 1.0 Project. MDN1变异导致癫痫易感性:为中国癫痫基因1.0项目。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-03-03 DOI: 10.1186/s42494-025-00209-3
Qianru Wen, Dongming Zhang, Yan Ding, Sheng Luo, Qiang Huang, Junhui Zhu, Yongxin Li, Wenhui Liu, Pengyu Wang, Xian Li, Zisheng Lin, Yaying Wang, Xiaoyu Liang, Weiping Liao, Jie Wang, Heng Meng

Background: The Midasin AAA (ATPase associated with various activities) ATPase 1 (MDN1) gene, a member of the AAA protein family, plays a crucial role in ribosome maturation. MDN1 is expressed in the human brain throughout life, especially during early development and adulthood. However, MDN1 variants have not been previously reported in patients with epilepsy. This study aims to explore the association between MDN1 variants and epilepsy.

Methods: Trios-based whole-exome sequencing was performed in a cohort of patients with epilepsy susceptibility from the China Epilepsy Gene 1.0 Project. The excess, damaging effects, and molecular subregional implications of variants, as well as the spatio-temporal expression of MDN1, were analyzed to validate the gene-disease association.

Results: Compound heterozygous variants in MDN1 were identified in five unrelated patients with febrile seizures or secondary epilepsy. Three patients presented with febrile seizures/epilepsy with febrile seizures plus, while two patients developed epilepsy secondary to brain damage (five or seven years after). These variants were either absent or present at low frequencies in the control group, and exhibited statistically significant higher frequencies in the case group compared to controls. All the missense variants were predicted to be damaging by at least one in silico tool. In each pair of compound heterozygous variants, one allele was located in the AAA2-AAA3 domains, while the other allele was located in the linker domain or its vicinity. In contrast, most of the variants from the asymptomatic control group were located outside the AAA domains, suggesting a molecular subregional implication of the MDN1 variants.

Conclusions: MDN1 is potentially a susceptibility gene for epilepsy.

背景:Midasin AAA (atp酶与各种活性相关)atp酶1 (MDN1)基因是AAA蛋白家族的一员,在核糖体成熟过程中起着至关重要的作用。MDN1在人的一生中都在大脑中表达,尤其是在早期发育和成年期。然而,MDN1变异先前未在癫痫患者中报道。本研究旨在探讨MDN1变异与癫痫之间的关系。方法:对来自中国癫痫基因1.0项目的癫痫易感性患者进行基于trios的全外显子组测序。分析了变异的过量、破坏性影响和分子分区域影响,以及MDN1的时空表达,以验证基因与疾病的关联。结果:在5例不相关的发热性惊厥或继发性癫痫患者中发现MDN1复合杂合变异体。3例患者表现为发热性癫痫发作/癫痫伴发热性癫痫发作,2例患者继发于脑损伤(5或7年后)。这些变异在对照组中要么不存在,要么以低频率存在,与对照组相比,病例组显示出统计学上显著的高频率。所有的错义变异都被至少一种计算机工具预测具有破坏性。在每对复合杂合变异体中,一个等位基因位于AAA2-AAA3结构域,另一个等位基因位于连接子结构域或其附近。相比之下,无症状对照组的大多数变异位于AAA结构域之外,提示MDN1变异的分子分区域含义。结论:MDN1是潜在的癫痫易感基因。
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引用次数: 0
Seizure first aid in the community: current situation, suggestions, and the role of the general practitioner in seizure management. 社区癫痫急救:现状、建议及全科医生在癫痫管理中的作用。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-03-03 DOI: 10.1186/s42494-025-00202-w
Mengtian Sun, Fanlong Meng, Zheng-Yan-Ran Xu, Yi Guo

The unpredictability of seizures underscores the importance of timely recognition and intervention for optimal prognosis. Seizure first aid (SFA) is an essential skill for community members. We reviewed the literature to assess the challenges and explore potential solutions for effective SFA implementation in community settings. The findings reveal that the knowledge of SFA varies significantly among different groups and countries. There are common misunderstandings, such as point therapy, unnecessary ambulance calls, putting objects into the mouth, inappropriate administration of anti-seizure medications, and performing cardiopulmonary resuscitation. Effective SFA training content includes ensuring the safety of patients, avoiding restraint, using lateral position, clearing the respiratory tract, avoiding placing objects into the mouth, recording details, and seeking for professional help. Training methods range from hospital-based courses to community center workshops and online platforms. General practitioners play a pivotal role in epilepsy management and should be actively involved in SFA training initiatives. Therefore, the development of targeted, diverse, and comprehensive training and evaluation strategies, along with collaborative efforts from the whole society, is essential to improve the level and effectiveness of community SFA.

癫痫发作的不可预测性强调了及时识别和干预对最佳预后的重要性。癫痫急救(SFA)是社区成员的一项基本技能。我们回顾了文献,以评估挑战并探索在社区环境中有效实施SFA的潜在解决方案。研究结果表明,不同群体和国家对SFA的认识存在显著差异。有一些常见的误解,如穴位治疗,不必要的救护车呼叫,将物体放入口中,不适当的抗癫痫药物管理,以及进行心肺复苏。有效的SFA培训内容包括确保患者安全、避免束缚、使用侧卧位、清理呼吸道、避免将物体放入口腔、记录细节、寻求专业帮助。培训方法包括从医院课程到社区中心讲习班和在线平台。全科医生在癫痫管理中发挥着关键作用,应积极参与SFA培训活动。因此,制定有针对性、多样化、综合性的培训和评估策略,在全社会的共同努力下,是提高社区SFA水平和有效性的必要条件。
{"title":"Seizure first aid in the community: current situation, suggestions, and the role of the general practitioner in seizure management.","authors":"Mengtian Sun, Fanlong Meng, Zheng-Yan-Ran Xu, Yi Guo","doi":"10.1186/s42494-025-00202-w","DOIUrl":"https://doi.org/10.1186/s42494-025-00202-w","url":null,"abstract":"<p><p>The unpredictability of seizures underscores the importance of timely recognition and intervention for optimal prognosis. Seizure first aid (SFA) is an essential skill for community members. We reviewed the literature to assess the challenges and explore potential solutions for effective SFA implementation in community settings. The findings reveal that the knowledge of SFA varies significantly among different groups and countries. There are common misunderstandings, such as point therapy, unnecessary ambulance calls, putting objects into the mouth, inappropriate administration of anti-seizure medications, and performing cardiopulmonary resuscitation. Effective SFA training content includes ensuring the safety of patients, avoiding restraint, using lateral position, clearing the respiratory tract, avoiding placing objects into the mouth, recording details, and seeking for professional help. Training methods range from hospital-based courses to community center workshops and online platforms. General practitioners play a pivotal role in epilepsy management and should be actively involved in SFA training initiatives. Therefore, the development of targeted, diverse, and comprehensive training and evaluation strategies, along with collaborative efforts from the whole society, is essential to improve the level and effectiveness of community SFA.</p>","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"7 1","pages":"11"},"PeriodicalIF":1.2,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960264/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144013856","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}
引用次数: 0
期刊
Acta Epileptologica
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