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Successful application of vagus nerve stimulation in super refractory status epilepticus associated with MERRF syndrome 成功应用迷走神经刺激治疗与 MERRF 综合征相关的超难治性癫痫状态
IF 1.8 Q3 CLINICAL NEUROLOGY Pub Date : 2025-04-14 DOI: 10.1016/j.ebr.2025.100769
Leyla Baysal , Sabrina Jobi , Simone Zimmermann , Ann-Kristin Helmers , Nils Gerd Margraf
Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is a rare mitochondrial disorder marked by myoclonus, ataxia, cognitive impairment, myopathy, and sensorineural hearing loss. Seizures in MERRF syndrome are often resistant to standard antiseizure medication. We present a unique case of an adult patient with MERRF syndrome, caused by the m.8344A > G point mutation, who developed super-refractory status epilepticus (SRSE), successfully managed by the initiation and rapid escalation of vagus nerve stimulation (VNS) therapy. Over a two-year follow-up period, the VNS therapy enabled a long-term control of generalized tonic-clonic seizures. A further status epilepticus has not yet occurred. VNS may therefore be a promising therapeutic option for managing SRSE in patients with mitochondrial epilepsy syndromes.
肌阵挛性癫痫伴不规则红纤维综合征(MERRF)是一种罕见的线粒体疾病,以肌阵挛、共济失调、认知障碍、肌病和感音神经性听力损失为特征。MERRF综合征的癫痫发作通常对标准的抗癫痫药物有耐药性。我们报告一例由m.8344A >;通过迷走神经刺激(VNS)的启动和快速升级治疗,成功地控制了G点突变患者的超难治性癫痫持续状态(SRSE)。在两年的随访期间,VNS治疗能够长期控制全身性强直阵挛发作。进一步的癫痫持续状态尚未发生。因此,VNS可能是治疗线粒体癫痫综合征患者SRSE的一种有希望的治疗选择。
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引用次数: 0
Exploring determinants of time to school re-entry after pediatric epilepsy surgery 探讨儿童癫痫手术后重返学校时间的决定因素
IF 1.8 Q3 CLINICAL NEUROLOGY Pub Date : 2025-04-14 DOI: 10.1016/j.ebr.2025.100771
Evangeline A. Huis in 't Veld , Olga Braams , Willem M. Otte , Peter van Rijen , Kees P.J. Braun , Renske Schappin
After epilepsy surgery, it varies when children re-enter school. The aim of this study was to identify determinants for this variation. Parents of 21 school-attending children participated in semi-structured interviews during their child’s hospitalization for epilepsy surgery and one year afterward (based on the standard neuropsychological post-surgical follow-up). The mean time to school re-entry was 10.7 weeks (SD = 6.3). One child did not attend school after one year, whilst the fastest child resumed school 2 weeks after surgery. We performed univariable linear regression models with bootstrapped R2 for all variables deemed theoretically or clinically relevant to school re-entry. We found that temporal surgery was significantly related to shorter time to school re-entry; and that longer hospitalization, and presurgical outpatient educational counseling were significantly related to longer time to school re-entry. In multivariable linear regression, these variables together predicted 57% of variance (bootstrapped) in time to school re-entry. In conclusion, our findings indicate that school re-entry varies considerably among children but can partly be explained by surgery related variables and the presence of counseling. Given the importance of school in children’s daily lives, we argue that school attendance should be stimulated by increasing professionals’ awareness of children’s school re-entry process.
癫痫手术后,当孩子们重新上学时,情况有所不同。本研究的目的是确定这种差异的决定因素。21名学龄儿童的家长在他们的孩子因癫痫手术住院期间和一年后参加了半结构化访谈(基于标准的神经心理学术后随访)。平均重返学校时间为10.7周(SD = 6.3)。有一个孩子一年后没有上学,而最快的孩子在手术后两周就恢复了学业。我们对所有被认为在理论上或临床上与重返学校相关的变量进行了单变量线性回归模型。我们发现颞部手术与较短的重返学校时间显著相关;住院时间较长、术前门诊教育辅导时间较长与复学时间显著相关。在多变量线性回归中,这些变量共同预测了57%的方差(自举)在重返学校的时间。总之,我们的研究结果表明,儿童重返学校的情况差异很大,但可以部分解释为与手术相关的变量和咨询的存在。鉴于学校在儿童日常生活中的重要性,我们认为应该通过提高专业人员对儿童重返学校过程的认识来刺激上学。
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引用次数: 0
Before diagnosing stroke-like episodes in OPA1-related mitochondrial disorder, its imaging criteria must be met 在诊断与opa1相关的线粒体疾病的卒中样发作之前,必须满足其影像学标准
IF 1.8 Q3 CLINICAL NEUROLOGY Pub Date : 2025-04-12 DOI: 10.1016/j.ebr.2025.100772
Josef Finsterer
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引用次数: 0
A functional seizure case in Wilson’s disease 威尔逊氏病的功能性癫痫病例
IF 1.8 Q3 CLINICAL NEUROLOGY Pub Date : 2025-04-12 DOI: 10.1016/j.ebr.2025.100768
Lucas D'Andrea, Raphael Mosqueira, Alcenor C. Miranda Filho, Renato L. Marchetti
Wilson’s disease (WD) is a rare disorder characterized by abnormal copper metabolism, leading to its accumulation in various tissues, particularly the brain and the liver. Psychiatric and neurological symptoms are common manifestations of WD. We present a case of a 22-year-old woman diagnosed with WD who exhibited neurological symptoms and experienced functional seizures (FS) that were misdiagnosed as epilepsy secondary to WD for almost two years. The patient’s history of childhood trauma and interpersonal difficulties underscored the complex interplay between organic and psychogenic factors contributing to FS development. This case highlights the diagnostic challenges associated with the neuropsychiatric manifestations of Wilson’s disease, as well as the complexities in differentiating functional seizures from epilepsy. It emphasizes the importance of comprehensive assessment and multidisciplinary care in optimizing patient outcomes.
威尔逊氏病(WD)是一种罕见的疾病,其特征是铜代谢异常,导致其在各种组织中积累,特别是大脑和肝脏。精神和神经症状是WD的常见表现。我们报告了一例22岁的女性WD患者,她表现出神经系统症状并经历功能性癫痫发作(FS),被误诊为继发于WD的癫痫近两年。患者的童年创伤史和人际关系困难强调了机体和心理因素之间复杂的相互作用,有助于FS的发展。本病例强调了与Wilson病的神经精神表现相关的诊断挑战,以及区分功能性发作与癫痫的复杂性。它强调了综合评估和多学科护理在优化患者结果中的重要性。
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引用次数: 0
Personalized adherence interventions using medication adherence technologies in polypharmacy management in epilepsy: An interprofessional case report 在癫痫综合药房管理中使用药物依从性技术的个性化依从性干预:一份跨专业病例报告
IF 1.8 Q3 CLINICAL NEUROLOGY Pub Date : 2025-04-07 DOI: 10.1016/j.ebr.2025.100767
Micheline C. Sarbach , Stephan Rüegg , Samuel S. Allemann , Isabelle Arnet
We describe a male patient with symptomatic multifocal epilepsy struggling with medication adherence. He accepted escalating adherence interventions with conventional dosing aids such as pillboxes and medication adherence technologies (MATech) including a smart medication dispensing and adherence device (SMAD). Adherence metrics and drug levels were continuously monitored by electronic monitoring (EM) and therapeutic drug monitoring (TDM). Initially, adherence metrics with pre-filled punch cards supplied by a community pharmacy showed 64% taking adherence, 63% timing adherence, and 47% correctly dosed days, including a five-day medication holiday. Adherence improved with a pharmacy-filled SMAD, reaching 93% taking adherence, 90% timing adherence, 86% correctly dosed days, and no medication holiday. No epileptic seizures were noticed during periods with EM. The patient was satisfied with the SMAD while struggling with other adherence tools. Adherence tended to decrease once adherence reminders were removed. In conclusion, we emphasize the importance of personalized adherence strategies and shared decision-making. This case highlights the positive impact of an interprofessional adherence improvement program, integrating efforts from researchers, neurologists, and community pharmacists.
我们描述了一个男性患者的症状多局灶性癫痫与药物依从性斗争。他接受了不断升级的依从性干预措施,包括传统的给药辅助工具,如药盒和药物依从性技术(MATech),包括智能药物分配和依从性设备(SMAD)。通过电子监测(EM)和治疗药物监测(TDM)连续监测依从性指标和药物水平。最初,使用社区药房提供的预填打孔卡的依从性指标显示,64%的人坚持服药,63%的人按时服药,47%的人正确服药,包括五天的用药假期。药物填充的SMAD改善了依从性,达到93%的服药依从性,90%的定时依从性,86%的正确给药天数,没有药物假期。在EM期间未发现癫痫发作。患者对SMAD感到满意,同时挣扎于其他依从性工具。依从性倾向于减少一旦依从性提醒被删除。总之,我们强调个性化依从性策略和共同决策的重要性。这个案例强调了一个跨专业的依从性改善项目的积极影响,整合了研究人员、神经学家和社区药剂师的努力。
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引用次数: 0
Comparing the risk of subsequent ischemic stroke and mortality in patients with epilepsy and patients with ischemic stroke 癫痫患者与缺血性脑卒中患者继发缺血性脑卒中风险及死亡率的比较
IF 1.8 Q3 CLINICAL NEUROLOGY Pub Date : 2025-04-06 DOI: 10.1016/j.ebr.2025.100766
Po-Yu Lin , Sheng-Hsiang Lin , Pi-Shan Sung
Patients with stroke or epilepsy face an elevated risk of subsequent strokes. This nationwide retrospective cohort study analyzed data from Taiwan’s National Health Insurance Research Database (2012–2020) to compare the risk of future ischemic stroke or transient ischemic attack (IS/TIA) among patients with epilepsy and those with prior IS/TIA. Patients were categorized into four groups: epilepsy with subsequent IS/TIA (E/S), epilepsy without IS/TIA (E), IS/TIA without epilepsy (S), and neither condition (C). Incidence rates and adjusted hazard ratios for IS/TIA and mortality were assessed across groups, which included 5,606, 11,212, 11,212, and 56,060 patients. The corresponding incidence rates of subsequent IS/TIA were 0.67, 0.03, 0.41, and 0.01 per 100 person-years in the E/S, E, S, and C groups, respectively. Compared to the S group, the E/S group had a higher adjusted hazard ratio for IS/TIA (aHR 1.68, 95% CI: 1.30–2.17), whereas the E group had a significantly lower adjusted hazard ratio (aHR 0.08, 95% CI: 0.04–0.14). Mortality risk was significantly elevated in both the E/S group (aHR 1.90, 95% CI: 1.75–2.05) and the E group (aHR 1.21, 95% CI: 1.12–1.30), compared to the S group. These findings suggest that epilepsy increases the risk of subsequent IS/TIA, though to a lesser extent than prior IS/TIA. They underscore the importance of condition-specific prevention strategies and the need for further research into the mechanisms linking epilepsy and stroke risk.
中风或癫痫患者随后中风的风险较高。​将患者分为四组:癫痫合并IS/TIA (E/S)、癫痫不伴IS/TIA (E)、癫痫不伴IS/TIA (S)和无癫痫(C)。评估各组IS/TIA的发病率和校正风险比以及死亡率,共包括5606例、11212例、11212例和56060例患者。E/S、E、S和C组相应的IS/TIA发生率分别为0.67、0.03、0.41和0.01 / 100人年。与S组相比,E/S组IS/TIA的调整风险比较高(aHR 1.68, 95% CI: 1.30-2.17),而E组的调整风险比明显较低(aHR 0.08, 95% CI: 0.04-0.14)。与S组相比,E/S组(aHR 1.90, 95% CI: 1.75-2.05)和E组(aHR 1.21, 95% CI: 1.12-1.30)的死亡风险均显著升高。这些发现表明,癫痫增加了随后IS/TIA的风险,尽管程度低于先前的IS/TIA。它们强调了针对特定疾病的预防策略的重要性,以及进一步研究癫痫和中风风险之间联系机制的必要性。
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引用次数: 0
Coexistence of Charles Bonnet Syndrome and occipital epilepsy: A diagnostic challenge 查尔斯邦纳综合征和枕癫痫共存:一个诊断挑战
IF 1.8 Q3 CLINICAL NEUROLOGY Pub Date : 2025-04-03 DOI: 10.1016/j.ebr.2025.100764
Vijaya Lakshmi Valaparla , Aabishkar Bhattarai , Patrick J. Karas , Diosely C. Silveira
Charles Bonnet Syndrome (CBS) is a condition characterized by complex visual hallucinations in individuals with visual impairment. We present the case of a patient with bilateral optic atrophy secondary to obstructive hydrocephalus caused by a pineal parenchymal tumor of intermediate differentiation (PPTID) who experienced formed visual hallucinations consistent with CBS. Following a right occipital craniotomy for occipital transtentorial approach and tumor resection, she developed elementary visual hallucinations. A thorough clinical history and systematic diagnostic evaluation led to the identification of coexisting right occipital epilepsy. This case highlights an intriguing overlap of two positive visual phenomena with distinct pathophysiological mechanisms.
查尔斯邦纳综合征(CBS)是一种以视觉障碍患者出现复杂视幻觉为特征的疾病。我们报告一例由中度分化的松果体实质肿瘤(PPTID)引起的继发于阻塞性脑积水的双侧视神经萎缩患者,他经历了与CBS一致的视觉幻觉。在右侧枕骨开颅,经枕幕入路和肿瘤切除后,她出现了初步的视觉幻觉。通过详细的临床病史和系统的诊断评估,确定了共存的右侧枕癫痫。本病例突出了两种具有不同病理生理机制的积极视觉现象的有趣重叠。
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引用次数: 0
Neuropsychiatric disorders in Chinese pediatric tuberous sclerosis complex patients associated with drug-resistant epilepsy: A TAND checklist-based survey 中国儿童结节性硬化症合并耐药癫痫患者的神经精神障碍:一项基于TAND检查表的调查
IF 1.8 Q3 CLINICAL NEUROLOGY Pub Date : 2025-04-03 DOI: 10.1016/j.ebr.2025.100765
Jie Fu , Qinrui Li , Genfu Zhang , Zhixian Yang , Jiong Qin
Tuberous sclerosis complex (TSC) is an autosomal-dominant genetic disorder frequently accompanied by neuropsychiatric disorders, especially in patients who have drug-resistant epilepsy (DRE). This study aimed to evaluate the distribution of neuropsychiatric disorders in Chinese children with TSC-related epilepsy using the TAND (Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders) checklist, comparing those with DRE to those achieving seizure freedom. A total of 47 children, aged 6 to 18 years, diagnosed with TSC at Peking University People’s Hospital, participated in this cross-sectional study. All participants met the latest diagnostic criteria for TSC. Based on the definition of drug-resistant epilepsy, participants were categorized into DRE group and seizure-free group. Neurodevelopmental disorders were evaluated using the TAND checklist. The study found that 66 % of participants exhibited varying degrees of intellectual disability, with the DRE group demonstrating significantly poorer performance in intelligence, behavior, neuropsychological, and learning skills compared to the seizure-free group. The DRE group also had higher rates of attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), alongside greater impairments in psychosocial functioning. This study indicates that DRE is strongly associated with neuropsychiatric development in children with TSC, but also that all children with TSC are at increased risk of TAND. Our findings highlight the importance of regular assessment and intervention to support TAND and improve quality of life in this vulnerable group.
结节性硬化症(TSC)是一种常染色体显性遗传疾病,常伴有神经精神疾病,特别是在耐药癫痫(DRE)患者中。本研究旨在利用TAND(结节性硬化症相关神经精神疾病)检查表评估中国tsc相关癫痫患儿的神经精神疾病分布,并将DRE组与癫痫发作自由组进行比较。在北京大学人民医院诊断为TSC的儿童共47名,年龄6 ~ 18岁,参与了本横断面研究。所有参与者均符合最新的TSC诊断标准。根据耐药癫痫的定义,将参与者分为DRE组和无发作组。使用TAND检查表评估神经发育障碍。研究发现,66%的参与者表现出不同程度的智力残疾,与无癫痫组相比,DRE组在智力、行为、神经心理学和学习技能方面的表现明显较差。DRE组患注意力缺陷多动障碍(ADHD)和自闭症谱系障碍(ASD)的比例也更高,同时心理社会功能也有更大的障碍。本研究表明,DRE与TSC儿童的神经精神发展密切相关,但所有TSC儿童发生TAND的风险都增加。我们的研究结果强调了定期评估和干预的重要性,以支持TAND和改善这一弱势群体的生活质量。
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引用次数: 0
Tramadol use and risk of seizure: A report of two cases and a review of recent literature 曲马多的使用和癫痫发作的风险:两个病例的报告和最近的文献综述
IF 1.8 Q3 CLINICAL NEUROLOGY Pub Date : 2025-03-24 DOI: 10.1016/j.ebr.2025.100763
Emma Dolan , Norman Delanty
Tramadol is a common pain medication used in practice across numerous specialties. Increased incidence of tramadol abuse and overdose in recent decades has led to it being classified as a controlled drug in several countries. Tramadol appears to be an increasingly popular drug of abuse, possibly related to ease of access to it on prescription, and its potential euphoric effects.
We identified two cases of seizures directly related to tramadol exposure. We then reviewed recent literature on tramadol and its adverse effects, particularly looking at its effect on seizure risk and the incidence of seizures. We found that there were scarce recent studies on the relationship between tramadol and seizure risk. Of studies found, many were carried out in animal models. Tramadol-induced seizures were studied in humans more commonly in the context of overdose, and studies involving humans tended to have small patient cohorts and suggested further study in the area.
We suggest that tramadol may be useful as part of multi-modal analgesia in moderate to severe pain in specific contexts, but that greater awareness of its potential adverse effects, and particularly its potential to lower seizure threshold, is warranted. We feel that more readily available information specifically about tramadol’s effects on seizure threshold may be of interest to colleagues from any specialty prescribing opioid analgesia on a regular basis, but that colleagues treating patients with seizure disorders should be particularly aware of these potential adverse effects.
曲马多是一种常见的止痛药,在许多专业的实践中使用。近几十年来,曲马多滥用和过量使用的发生率增加,导致它在几个国家被列为管制药物。曲马多似乎是一种越来越受欢迎的滥用药物,可能与处方上容易获得曲马多及其潜在的欣快效果有关。我们确定了两例与曲马多暴露直接相关的癫痫发作。然后,我们回顾了最近关于曲马多及其副作用的文献,特别关注其对癫痫发作风险和癫痫发作发生率的影响。我们发现最近很少有关于曲马多与癫痫发作风险之间关系的研究。在发现的研究中,许多是在动物模型中进行的。曲马多诱发的人类癫痫发作的研究通常是在过量的情况下进行的,涉及人类的研究往往是小规模的患者队列,建议在该领域进行进一步的研究。我们建议曲马多在特定情况下可作为多模式镇痛的一部分,用于中度至重度疼痛,但需要对其潜在的不良反应,特别是降低癫痫发作阈值的潜力有更大的认识。我们认为更容易获得的关于曲马多对癫痫发作阈值影响的具体信息可能会引起任何专业开具阿片类镇痛药处方的同事的兴趣,但治疗癫痫发作障碍患者的同事应该特别注意这些潜在的不良反应。
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引用次数: 0
Safety and feasibility of exhaustive exercise testing for people with epilepsy 癫痫患者运动测试的安全性和可行性
IF 1.8 Q3 CLINICAL NEUROLOGY Pub Date : 2025-03-16 DOI: 10.1016/j.ebr.2025.100762
Franziska van den Bongard , Catharina Petersen , Claus Reinsberger
People with epilepsy (PWE) are encouraged to participate in exercise and be physically active, but some PWE may report exercise-associated seizures (EAS). However, there is a lack of objective tools to inform individual recommendations for physical activity and exercise participation in PWE. This study investigated the feasibility and safety of exhaustive exercise testing in PWE. 29 patients underwent an objectively and subjectively exhaustive exercise test on a bicycle ergometer and resting state EEG was obtained before and after exercise. One patient with a history of EAS experienced a seizure immediately after exercising. In patients without EAS, an asymptomatic subclinical electrographic seizure was observed in one patient, and two patients revealed interictal epileptiform discharges only after exercise. All EEG changes occurred in the setting of non-REM sleep, while the respective pre-exercise EEG recordings revealed less sleep. No seizures or significant EEG changes after exercise were observed in any other patient. EEG investigations before and after exhaustive exercise were feasible in PWE, but safety protocols need to be established, especially in patients with EAS. Investigation of a higher number of PWE with and without EAS with repeat exercise-associated EEG may provide information about the clinical utility of exercise-associated EEGs when counseling PWE.
癫痫患者(PWE)被鼓励参加运动和身体活动,但一些PWE可能会报告运动相关癫痫发作(EAS)。然而,缺乏客观的工具来为PWE的身体活动和运动参与提供个人建议。本研究探讨了在PWE中进行力竭运动试验的可行性和安全性。29例患者分别在自行车测力仪上进行客观和主观上的力竭运动试验,并在运动前后获得静息状态脑电图。一名有EAS病史的患者在运动后立即发作。在没有EAS的患者中,1例患者观察到无症状的亚临床电图癫痫发作,2例患者仅在运动后出现间歇性癫痫样放电。所有的脑电图变化都发生在非快速眼动睡眠的情况下,而相应的运动前脑电图记录显示睡眠较少。其他患者运动后未见癫痫发作或显著脑电图改变。穷竭运动前后的脑电图检查在PWE中是可行的,但需要建立安全方案,特别是在EAS患者中。通过重复运动相关脑电图对伴有和不伴有EAS的大量PWE进行调查,可以为运动相关脑电图在咨询PWE时的临床应用提供信息。
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引用次数: 0
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Epilepsy and Behavior Reports
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