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“I’m lonely”: An underrecognized marker of silent suffering in PWE in underresourced settings? “我很孤独”:在资源不足的环境中,PWE沉默痛苦的一个未被认识的标志?
IF 1.5 Q3 CLINICAL NEUROLOGY Pub Date : 2025-12-08 DOI: 10.1016/j.ebr.2025.100841
Amza Ali
Loneliness is increasingly recognized as a significant psychosocial determinant of health, yet it remains comparatively underexplored in the context of epilepsy, and particularly in under-resourced environments. Unlike depression or anxiety, loneliness is less specifically sought, nor readily disclosed, despite its profound impact on well-being. This article draws on clinical experience and a small observational audit in Jamaica to highlight loneliness as a distinct and pervasive issue among people with epilepsy (PWE). While loneliness frequently co-occurs with depression, it may exist independently and may precede diagnosable mood disorders. Contributing factors include societal stigma, physician-advised safety restrictions, antiseizure medication side effects, and systemic gaps in epilepsy care, factors often greatly intensified in low-resource settings. By focusing on the lived experience of patients, this article argues that loneliness may silently erode quality of life, autonomy, and treatment adherence, in part also from its seemingly close association with depression. It proposes low-cost, socially focused interventions as potentially transformative and suggests the need for inclusion of loneliness as a modifiable factor in clinical practice and future research. A simple question, “Do you feel lonely?” could facilitate the identification of loneliness in PWE, and particularly in underserved communities and LMICs with high social stigma, may help improve psychosocial outcomes, and epilepsy control.
孤独感越来越被认为是健康的一个重要的社会心理决定因素,但在癫痫的情况下,特别是在资源不足的环境中,孤独感的探索仍然相对不足。与抑郁或焦虑不同,尽管孤独对幸福感有深远的影响,但它不太容易被寻找,也不容易被披露。本文借鉴牙买加的临床经验和一项小型观察性审计,强调孤独是癫痫患者(PWE)中一个明显而普遍的问题。虽然孤独经常与抑郁症同时发生,但它可能独立存在,可能先于可诊断的情绪障碍。造成这种情况的因素包括社会污名、医生建议的安全限制、抗癫痫药物副作用以及癫痫治疗方面的系统性差距,这些因素在资源匮乏的环境中往往大大加剧。通过关注患者的生活经历,这篇文章认为孤独可能会默默地侵蚀生活质量、自主性和治疗依从性,部分原因也在于它与抑郁症的密切联系。它提出低成本、以社会为重点的干预措施具有潜在的变革性,并建议在临床实践和未来的研究中,需要将孤独作为一个可改变的因素。一个简单的问题,“你感到孤独吗?”可以促进PWE孤独感的识别,特别是在服务不足的社区和社会耻辱感高的中低收入国家,这可能有助于改善社会心理结果和癫痫控制。
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引用次数: 0
Early antiseizure response to cenobamate (200 mg/day) in focal drug-resistant epilepsy: a retrospective single-center analysis 局灶性耐药癫痫患者早期使用cenobamate (200mg /天)抗癫痫反应:一项回顾性单中心分析
IF 1.5 Q3 CLINICAL NEUROLOGY Pub Date : 2025-12-01 DOI: 10.1016/j.ebr.2025.100839
Ewa Czapińska-Ciepiela, Agnieszka Kondak, Monika Kowalczyk, Piotr Czapiński
Clinical studies have shown cenobamate (CNB) is effective for treating drug-resistant focal epilepsy. This study examines Polish patients with epilepsy, assessing the efficacy and safety of CNB at 200 mg/day and factors influencing early therapeutic response. A retrospective observational study involved 100 patients with drug-resistant focal epilepsy, treated in a private Polish epilepsy outpatient clinic from March 2022 to March 2025. The primary goal was to evaluate response to CNB 200 mg/day, using seizure reduction thresholds (50 %, 75 %, 100 %), and to identify determinants such as demographic data, disease duration and etiology, intellectual disability, baseline seizure frequency, previous antiseizure medications (ASMs) and medication combinations. Adverse reactions and changes in concomitant ASMs were also evaluated. Of the 100 patients, 95 continued CNB therapy. Most had multi-drug resistance. After three months at 200 mg/day, ≥50 % seizure reduction was seen in 63 %, ≥75 % in 36 %, and 100 % in 18 %. Age, sex, epilepsy etiology or duration, intellectual disability, prior seizure count, previous ASMs, and medication combinations did not affect CNB’s efficacy. Most tolerated CNB well, with adverse effects including dizziness and balance disorders (49 %), somnolence (38 %), diplopia (17 %), weakness (10 %), and concentration or memory issues (10 %). Lacosamide use increased adverse effects, which mostly resolved after dose reduction. Other adjusted drugs were lamotrigine, topiramate, and oxcarbazepine. CNB at 200 mg/day was highly effective and generally well-tolerated, especially with reduced doses of other ASMs. Efficacy was independent of epilepsy severity or treatment factors, suggesting CNB’s promise in multi-drug-resistant patients.
临床研究表明,cenobamate (CNB)是治疗耐药局灶性癫痫的有效药物。本研究以波兰癫痫患者为研究对象,评估200 mg/天CNB的疗效和安全性以及影响早期治疗反应的因素。一项回顾性观察性研究纳入了100例耐药局灶性癫痫患者,这些患者于2022年3月至2025年3月在波兰一家私营癫痫门诊接受治疗。主要目的是通过癫痫发作减少阈值(50%、75%、100%)来评估对CNB 200mg /天的反应,并确定诸如人口统计数据、疾病持续时间和病因、智力残疾、基线癫痫发作频率、既往抗癫痫药物(asm)和药物组合等决定因素。并对不良反应及伴随的asm变化进行了评价。在100名患者中,95名患者继续接受CNB治疗。大多数有多药耐药。服药200 mg/天3个月后,63%的患者癫痫发作减少≥50%,36%的患者癫痫发作减少≥75%,18%的患者癫痫发作减少100%。年龄、性别、癫痫病因或持续时间、智力残疾、既往癫痫发作次数、既往asm和药物组合不影响CNB的疗效。大多数人对CNB耐受良好,其不良反应包括头晕和平衡障碍(49%)、嗜睡(38%)、复视(17%)、虚弱(10%)以及注意力或记忆力问题(10%)。拉科沙胺的使用增加了不良反应,这些不良反应大多在剂量减少后消失。其他调整药物为拉莫三嗪、托吡酯和奥卡西平。200毫克/天的CNB非常有效,一般耐受性良好,特别是减少其他asm的剂量。疗效与癫痫严重程度或治疗因素无关,提示CNB在多重耐药患者中的应用前景。
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引用次数: 0
Special issue on advancing physical activity and exercise research in epilepsy and seizure disorders 关于在癫痫和发作性疾病中推进身体活动和运动研究的特刊
IF 1.5 Q3 CLINICAL NEUROLOGY Pub Date : 2025-12-01 DOI: 10.1016/j.ebr.2025.100827
Jane B. Allendorfer
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引用次数: 0
Electroceuticals for Motherhood: Utility of responsive neurostimulation and Proactive antiseizure medication management in two pregnancies 母性电治疗:反应性神经刺激和主动抗癫痫药物管理在两次妊娠中的效用
IF 1.5 Q3 CLINICAL NEUROLOGY Pub Date : 2025-11-18 DOI: 10.1016/j.ebr.2025.100838
Aisha Abdulrazaq , Dorothee Kasteleijn , Thomas Henry , Sandipan Pati
Females with drug-resistant epilepsy (DRE) face unique challenges in balancing seizure control with the teratogenic risks of anti-seizure medications (ASMs) during pregnancy. This case study highlights the use of responsive neurostimulation (RNS) as an electroneuromodulatory strategy to enable safer pregnancies by reducing ASM burden while maintaining seizure control. A 25-year-old woman with bilateral limbic epilepsy secondary to autoimmune encephalitis underwent RNS implantation targeting the hippocampi. Over a multi-year preconception planning period, RNS optimization allowed for tapering of high-risk ASMs and stabilization of seizure frequency. Across two pregnancies, neuromodulation enabled stable epilepsy control and reduced reliance on polytherapy, despite pharmacokinetic ASM variability. Both pregnancies resulted in healthy infants with no major congenital anomalies, despite episodes of breakthrough seizures. This case underscores the transformative potential of RNS in the reproductive care of women with DRE—not only by improving maternal safety but also by reducing fetal exposure to teratogenic drugs. As the first report to demonstrate how RNS can facilitate pregnancy planning with details on how ASM was minimized and complex therapeutic monitoring, this study sets the stage for integrating electroneuromodulation into preconception counselling and epilepsy management for women of childbearing age.
女性耐药癫痫(DRE)面临着独特的挑战,平衡癫痫发作控制与致畸风险的抗癫痫药物(asm)在怀孕期间。本案例研究强调了使用反应性神经刺激(RNS)作为电子神经调节策略,通过减少ASM负担,同时保持癫痫控制,从而实现更安全的妊娠。一名25岁的双侧边缘癫痫继发于自身免疫性脑炎的女性接受了针对海马的RNS植入。在多年的孕前计划期间,RNS优化允许减少高风险的asm和稳定癫痫发作频率。在两次怀孕期间,尽管ASM的药代动力学变异性,神经调节使癫痫控制稳定,减少了对多种治疗的依赖。两次怀孕都产生了健康的婴儿,没有重大的先天性异常,尽管有突发性癫痫发作。该病例强调了RNS在安德安德妇女生殖保健方面的变革性潜力——不仅可以提高产妇安全性,还可以减少胎儿接触致畸药物。作为第一份展示RNS如何促进妊娠计划的报告,详细介绍了如何最小化ASM和复杂的治疗监测,本研究为将神经电调节整合到育龄妇女的孕前咨询和癫痫管理中奠定了基础。
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引用次数: 0
A case of neurosarcoidosis presenting as hippocampal sclerosis: Clinicopathological correlation and proposed mechanistic link 以海马硬化为表现的神经结节病1例:临床病理相关性及提出的机制联系
IF 1.5 Q3 CLINICAL NEUROLOGY Pub Date : 2025-11-07 DOI: 10.1016/j.ebr.2025.100837
Elham Rahimian , Guive Sharifi , Hans Jürgen Huppertz , Majid Reza Tahsini , Behnam Safarpour Lima , Elham Naderi , Yalda Nilipour , Melika Javani , Soudeh Ghafouri-Fard
Neurosarcoidosis is a rare manifestation of systemic sarcoidosis, typically affecting the meninges, cranial nerves, and hypothalamic–pituitary axis. Parenchymal brain involvement—particularly of the hippocampus—is uncommon and only rarely associated with epilepsy or hippocampal sclerosis (HS). Here, we describe a rare coexistence of biopsy-proven neurosarcoidosis and hippocampal sclerosis, suggesting secondary hippocampal injury due to chronic inflammation presenting with drug-resistant right mesial temporal lobe epilepsy (MTLE). We reviewed the clinical electrophysiological imaging and histopathological findings of a 47-year-old male who underwent anterior temporal lobectomy (ATL) after seizure onset which was localized to the right anterior to mid temporal region. Preoperative MRI was consistent with mesial temporal sclerosis. Histopathological analysis revealed both classic features of HS (neuronal loss and gliosis) and non-caseating granulomas diagnostic of neurosarcoidosis distributed within the medial temporal lobe and involving the amygdala. These findings suggest chronic inflammation may have contributed to hippocampal injury and epileptogenesis. The patient became seizure-free postoperatively. This case underscores the potential for neurosarcoidosis to mimic isolated MTLE and coexist with HS as a rare co-localized pathology. It raises the hypothesis that immune-mediated inflammation may play a pathogenic role in hippocampal degeneration. Recognition of such cases may enhance diagnostic accuracy and inform surgical planning in epilepsy associated with systemic inflammatory disorders.
神经结节病是一种罕见的系统性结节病,通常累及脑膜、脑神经和下丘脑-垂体轴。脑实质受累-特别是海马-是罕见的,很少与癫痫或海马硬化(HS)有关。在这里,我们描述了一个罕见的活组织检查证实的神经结节病和海马硬化共存,提示慢性炎症引起的继发性海马损伤表现为耐药右侧内侧颞叶癫痫(MTLE)。我们回顾了一位47岁男性患者的临床电生理成像和组织病理学结果,他在癫痫发作后接受了颞叶前部切除术(ATL)。术前MRI符合内侧颞叶硬化。组织病理学分析显示HS的典型特征(神经元丢失和神经胶质瘤)和非干酪化肉芽肿诊断为神经结节病分布在内侧颞叶和累及杏仁核。这些发现提示慢性炎症可能导致海马损伤和癫痫发生。患者术后无癫痫发作。本病例强调了神经结节病可能与孤立的MTLE相似,并与HS共存,这是一种罕见的共定位病理。它提出了免疫介导的炎症可能在海马变性中起致病作用的假设。识别这类病例可以提高诊断的准确性,并为与全身炎症性疾病相关的癫痫的手术计划提供信息。
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引用次数: 0
Network analysis of antiseizure medication use, efficacy, and safety in epilepsy: A retrospective cohort study in a tertiary care center 癫痫患者抗癫痫药物使用、疗效和安全性的网络分析:一项三级医疗中心的回顾性队列研究
IF 1.5 Q3 CLINICAL NEUROLOGY Pub Date : 2025-11-03 DOI: 10.1016/j.ebr.2025.100836
Miguel Angel Morales-Morales , Emilio García-Gómez , Daniel San-Juan , Carlos Trenado , Daniela Carolina Pimentel-Saona , Yazmin Palomares-Salazar , Manuel Alejandro Del Río-Quiñones , Mónica Alejandra Montalvo-Hérnandez , Christopher De Jesús-Fernández , Jesús Iván Ruiz-Gutierrez , Clio Rubinos
Antiseizure medications (ASMs) remain the cornerstone of epilepsy treatment, yet data on prescription patterns, effectiveness, and safety in low- and middle-income countries are limited. This retrospective cohort study analyzed changes in ASM use, efficacy, and adverse effects across 10 years in a tertiary care center in Mexico, comparing two phases: 2011–2013 (n = 100) and 2021–2023 (n = 128). Data on seizure freedom, adverse effects, and ASM patterns were analyzed using descriptive statistics and comparative tests. Network analysis and centrality measures were performed with MATLAB Version 9.12.0 to explore the relationships among prescribed ASMs and their influence on outcomes. A total of 228 patients were included. Seizure freedom rates increased from 9 % in the first phase to 25.8 % in the second (p = 0.001). Valproic acid remained the most frequently prescribed ASM, while levetiracetam use markedly increased (49 %). Adverse effects rose from 10 % to 17 % despite a modest reduction in polytherapy (93 % to 87.5 %). The network analysis revealed clusters of ASMs commonly prescribed together that were associated with seizure freedom (valproic acid, lamotrigine, topiramate), whereas combinations including phenobarbital and lamotrigine were linked to more adverse effects. Valproate continues to play a key role in seizure control due to its efficacy, accessibility, and broad-spectrum profile. Despite advances in newer ASM use and improved seizure outcomes, adverse effects remain a concern. Continued monitoring of ASM combinations is warranted to better understand evolving treatment patterns and guide epilepsy management in resource-limited settings.
抗癫痫药物仍然是癫痫治疗的基石,但在低收入和中等收入国家,关于处方模式、有效性和安全性的数据有限。这项回顾性队列研究分析了墨西哥一家三级保健中心10年来ASM使用、疗效和不良反应的变化,比较了两个阶段:2011-2013年(n = 100)和2021-2023年(n = 128)。使用描述性统计和比较检验分析癫痫发作自由度、不良反应和ASM模式的数据。采用MATLAB 9.12.0版本进行网络分析和中心性测量,探讨处方asm之间的关系及其对预后的影响。共纳入228例患者。发作自由率从第一阶段的9%上升到第二阶段的25.8% (p = 0.001)。丙戊酸仍然是最常用的ASM处方,而左乙拉西坦的使用明显增加(49%)。不良反应从10%上升到17%,尽管复合治疗略有减少(93%到87.5%)。网络分析显示,通常同时使用的抗痉挛药物群(丙戊酸、拉莫三嗪、托吡酯)与癫痫发作自由有关,而包括苯巴比妥和拉莫三嗪在内的组合则与更多的不良反应有关。丙戊酸钠由于其疗效、可及性和广谱性,在癫痫发作控制中继续发挥关键作用。尽管新ASM的使用取得了进展,癫痫发作的结果也有所改善,但副作用仍然令人担忧。有必要继续监测ASM组合,以便更好地了解不断变化的治疗模式,并指导资源有限环境下的癫痫管理。
{"title":"Network analysis of antiseizure medication use, efficacy, and safety in epilepsy: A retrospective cohort study in a tertiary care center","authors":"Miguel Angel Morales-Morales ,&nbsp;Emilio García-Gómez ,&nbsp;Daniel San-Juan ,&nbsp;Carlos Trenado ,&nbsp;Daniela Carolina Pimentel-Saona ,&nbsp;Yazmin Palomares-Salazar ,&nbsp;Manuel Alejandro Del Río-Quiñones ,&nbsp;Mónica Alejandra Montalvo-Hérnandez ,&nbsp;Christopher De Jesús-Fernández ,&nbsp;Jesús Iván Ruiz-Gutierrez ,&nbsp;Clio Rubinos","doi":"10.1016/j.ebr.2025.100836","DOIUrl":"10.1016/j.ebr.2025.100836","url":null,"abstract":"<div><div>Antiseizure medications (ASMs) remain the cornerstone of epilepsy treatment, yet data on prescription patterns, effectiveness, and safety in low- and middle-income countries are limited. This retrospective cohort study analyzed changes in ASM use, efficacy, and adverse effects across 10 years in a tertiary care center in Mexico, comparing two phases: 2011–2013 (n = 100) and 2021–2023 (n = 128). Data on seizure freedom, adverse effects, and ASM patterns were analyzed using descriptive statistics and comparative tests. Network analysis and centrality measures were performed with MATLAB Version 9.12.0 to explore the relationships among prescribed ASMs and their influence on outcomes. A total of 228 patients were included. Seizure freedom rates increased from 9 % in the first phase to 25.8 % in the second (p = 0.001). Valproic acid remained the most frequently prescribed ASM, while levetiracetam use markedly increased (49 %). Adverse effects rose from 10 % to 17 % despite a modest reduction in polytherapy (93 % to 87.5 %). The network analysis revealed clusters of ASMs commonly prescribed together that were associated with seizure freedom (valproic acid, lamotrigine, topiramate), whereas combinations including phenobarbital and lamotrigine were linked to more adverse effects. Valproate continues to play a key role in seizure control due to its efficacy, accessibility, and broad-spectrum profile. Despite advances in newer ASM use and improved seizure outcomes, adverse effects remain a concern. Continued monitoring of ASM combinations is warranted to better understand evolving treatment patterns and guide epilepsy management in resource-limited settings.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"32 ","pages":"Article 100836"},"PeriodicalIF":1.5,"publicationDate":"2025-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145519648","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
Stereo-EEG associated anti-GAD65 autoimmune encephalitis – A report of two cases 立体脑电图相关抗gad65自身免疫性脑炎2例报告
IF 1.5 Q3 CLINICAL NEUROLOGY Pub Date : 2025-10-25 DOI: 10.1016/j.ebr.2025.100835
Claude Steriade , Andrew Christiana , Giovanna Dane , Peter A. Rozman , Daniel Friedman
We present two cases of adult-onset temporal lobe epilepsy (TLE) who underwent stereo-EEG and, within weeks of explantation, experienced subacute encephalopathy and in one patient, seizure exacerbation. Diagnostic investigations revealed low titer GAD antibodies in serum and evidence of GAD intrathecal synthesis. Immunotherapy led to improvement in one patient. We posit a role for blood brain barrier disruption in the setting of a neurosurgical procedure leading to inflammation and intrathecal synthesis of GAD antibodies. Investigations for autoimmune causes of epilepsy should be undertaken prior to SEEG in patients with no known cause of epilepsy and a suggestive electroclinical phenotype.
我们报告了两例成人发作的颞叶癫痫(TLE),他们接受了立体脑电图,在移植后的几周内,经历了亚急性脑病,其中一名患者癫痫发作加剧。诊断调查显示血清中有低滴度GAD抗体,鞘内有GAD合成的证据。免疫疗法改善了一名患者。我们假设在神经外科手术中血脑屏障破坏的作用,导致炎症和鞘内GAD抗体的合成。对于没有已知癫痫病因和提示电临床表型的患者,应在SEEG之前进行自身免疫性癫痫病因的调查。
{"title":"Stereo-EEG associated anti-GAD65 autoimmune encephalitis – A report of two cases","authors":"Claude Steriade ,&nbsp;Andrew Christiana ,&nbsp;Giovanna Dane ,&nbsp;Peter A. Rozman ,&nbsp;Daniel Friedman","doi":"10.1016/j.ebr.2025.100835","DOIUrl":"10.1016/j.ebr.2025.100835","url":null,"abstract":"<div><div>We present two cases of adult-onset temporal lobe epilepsy (TLE) who underwent stereo-EEG and, within weeks of explantation, experienced subacute encephalopathy and in one patient, seizure exacerbation. Diagnostic investigations revealed low titer GAD antibodies in serum and evidence of GAD intrathecal synthesis. Immunotherapy led to improvement in one patient. We posit a role for blood brain barrier disruption in the setting of a neurosurgical procedure leading to inflammation and intrathecal synthesis of GAD antibodies. Investigations for autoimmune causes of epilepsy should be undertaken prior to SEEG in patients with no known cause of epilepsy and a suggestive electroclinical phenotype.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"32 ","pages":"Article 100835"},"PeriodicalIF":1.5,"publicationDate":"2025-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145415084","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
Prolonged psychiatric symptoms revealed as nonconvulsive status epilepticus in ring chromosome 20 syndrome 20环染色体综合征的长期精神症状表现为非惊厥性癫痫持续状态
IF 1.5 Q3 CLINICAL NEUROLOGY Pub Date : 2025-10-19 DOI: 10.1016/j.ebr.2025.100834
Mihoko Kawai , Kento Nakamura , Ryosuke Aratake , Mayuko Ota , Koutaro Sakurai , Kousuke Kanemoto
Ring chromosome 20 (r[20]) syndrome is a rare epilepsy-associated chromosomal disorder often accompanied by intellectual disability and psychiatric symptoms. It lacks distinctive physical features and typically exhibits normal brain imaging; therefore, its diagnosis is frequently delayed, especially when clinicians are unfamiliar with it. Nonconvulsive status epilepticus (NCSE), a hallmark of this syndrome, can be overlooked even by epilepsy specialists, who interpret it as a psychiatric symptom, particularly in patients with limited expressive capacity. A 42-year-old woman with a long-standing history of drug-resistant epilepsy and behavioral symptoms was ultimately diagnosed with r(20) syndrome. She developed tonic seizures and fear episodes at age 6 and was diagnosed with epilepsy. After age 11, drug-resistant NCSE emerged and was not clearly identified as status epilepticus; it was considered to involve impaired awareness seizures and psychiatric symptoms. At age 41, perampanel (PER) was initiated, triggering aggressive behavior and new backward-falling episodes, further complicating her clinical presentation. Video electroencephalogram (EEG) confirmed NCSE, and chromosomal analysis identified r(20). After PER discontinuation, aggression and backward-falling episodes resolved. Lacosamide was introduced, reducing the frequency of NCSE from several daily episodes to 2–3 per week. This case underscores the diagnostic challenges of r(20) syndrome and the risk of misdiagnosing NCSE as a psychiatric illness. Additionally, PER may exacerbate psychiatric symptoms in r(20) cases with intellectual disability. Precise seizure classification and confirmation by ictal EEG, along with integrated neuropsychiatric care, are essential for accurate diagnosis and effective management.
20环染色体综合征是一种罕见的与癫痫相关的染色体疾病,常伴有智力障碍和精神症状。它缺乏明显的身体特征,通常表现为正常的脑成像;因此,它的诊断经常被延误,特别是当临床医生不熟悉它。非惊厥性癫痫持续状态(NCSE)是该综合征的一个标志,甚至被癫痫专家所忽视,他们将其解释为精神症状,特别是在表达能力有限的患者中。一名42岁女性,长期患有耐药癫痫和行为症状,最终被诊断为r(20)综合征。她在6岁时出现强直性癫痫发作和恐惧发作,并被诊断患有癫痫。11岁后出现耐药NCSE,但未明确确定为癫痫持续状态;它被认为涉及意识受损、癫痫发作和精神症状。41岁时,perampanel (PER)开始,引发了攻击行为和新的向后跌倒发作,进一步复杂化了她的临床表现。视频脑电图(EEG)证实NCSE,染色体分析证实r(20)。在PER停药后,攻击性和向后跌倒发作消失。引入拉科沙胺,将NCSE的频率从每天几次减少到每周2-3次。本病例强调了r(20)综合征的诊断挑战以及将NCSE误诊为精神疾病的风险。此外,PER可能加重r(20)例智力残疾患者的精神症状。准确的癫痫分类和发作期脑电图的确认,以及综合的神经精神护理,是准确诊断和有效管理的必要条件。
{"title":"Prolonged psychiatric symptoms revealed as nonconvulsive status epilepticus in ring chromosome 20 syndrome","authors":"Mihoko Kawai ,&nbsp;Kento Nakamura ,&nbsp;Ryosuke Aratake ,&nbsp;Mayuko Ota ,&nbsp;Koutaro Sakurai ,&nbsp;Kousuke Kanemoto","doi":"10.1016/j.ebr.2025.100834","DOIUrl":"10.1016/j.ebr.2025.100834","url":null,"abstract":"<div><div>Ring chromosome 20 (r[20]) syndrome is a rare epilepsy-associated chromosomal disorder often accompanied by intellectual disability and psychiatric symptoms. It lacks distinctive physical features and typically exhibits normal brain imaging; therefore, its diagnosis is frequently delayed, especially when clinicians are unfamiliar with it. Nonconvulsive status epilepticus (NCSE), a hallmark of this syndrome, can be overlooked even by epilepsy specialists, who interpret it as a psychiatric symptom, particularly in patients with limited expressive capacity. A 42-year-old woman with a long-standing history of drug-resistant epilepsy and behavioral symptoms was ultimately diagnosed with r(20) syndrome. She developed tonic seizures and fear episodes at age 6 and was diagnosed with epilepsy. After age 11, drug-resistant NCSE emerged and was not clearly identified as status epilepticus; it was considered to involve impaired awareness seizures and psychiatric symptoms. At age 41, perampanel (PER) was initiated, triggering aggressive behavior and new backward-falling episodes, further complicating her clinical presentation. Video electroencephalogram (EEG) confirmed NCSE, and chromosomal analysis identified r(20). After PER discontinuation, aggression and backward-falling episodes resolved. Lacosamide was introduced, reducing the frequency of NCSE from several daily episodes to 2–3 per week. This case underscores the diagnostic challenges of r(20) syndrome and the risk of misdiagnosing NCSE as a psychiatric illness. Additionally, PER may exacerbate psychiatric symptoms in r(20) cases with intellectual disability. Precise seizure classification and confirmation by ictal EEG, along with integrated neuropsychiatric care, are essential for accurate diagnosis and effective management.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"32 ","pages":"Article 100834"},"PeriodicalIF":1.5,"publicationDate":"2025-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145361958","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
Long-term efficacy and safety of perampanel in patients aged 60 years and older with focal seizures: Post hoc analysis of phase III open-label extension studies stratified by enzyme-inducing anti-seizure medication use perampanel在60岁及以上局灶性癫痫患者中的长期疗效和安全性:按酶诱导抗癫痫药物使用分层的III期开放标签扩展研究的事后分析
IF 1.5 Q3 CLINICAL NEUROLOGY Pub Date : 2025-10-10 DOI: 10.1016/j.ebr.2025.100833
Rohit Marawar , Ilo E. Leppik , Robert T. Wechsler , Anna Patten , Leock Y. Ngo

Objective

Examine long-term findings from two Phase III open-label extension (OLEx) studies of adjunctive perampanel in patients aged ≥60 years experiencing focal seizures (FS), with/without focal to bilateral tonic-clonic seizures (FBTCS), with/without enzyme-inducing anti-seizure medications (EIASMs). Methods: Study 307 (NCT00735397) included a Conversion Period (16 weeks; blinded) and a Maintenance Period (256 weeks). Study 335 OLEx (NCT01618695) included Pre-conversion (4 weeks), Conversion (6 weeks), and Maintenance Periods (≥46 weeks). Perampanel (2–12 mg/day) was given alongside 1–3 concomitant ASMs, of which ≤2 (Study 307) and ≤1 (Study 335) were EIASMs. Efficacy and safety outcomes were analyzed. Results: Seventy-one patients aged ≥60 years were included in the Full and Safety Analysis Sets. Over 4 years, seizure frequency decreased regardless of EIASM use; seizure-freedom rates for FS were 0.0 % (n = 0/71) for Year 1, 2.6 % (n = 1/38) Year 2, 5.3 % (n = 1/19) Year 3, and 0.0 % (n = 0/14) Year 4. For FBTCS, these rates were 26.3 % (n = 5/19) for Year 1, 22.2 % (n = 2/9) Year 2, 40.0 % (n = 2/5) Year 3, and 0.0 % (n = 0/4) Year 4. The 90 % responder rates were ≥14.0 % for FS and ≥40.0 % for FBTCS. Incidence of treatment-emergent adverse events (TEAEs) was highest during Year 1 (87.3 % [n = 62/71]) but decreased across Years 2–4 (47.4 %–60.4 %). The most commonly reported TEAE during Years 1/2 was dizziness (47.9 % [n = 34/71] and 12.5 % [n = 6/48], respectively) and during Years 3/4 was fall (15.8 % [n = 3/19] and 14.3 % [n = 2/14]). Significance: Adjunctive perampanel conferred long-term seizure control in older patients with epilepsy; safety was aligned with established perampanel safety profile.
目的:研究两项III期开放标签扩展(OLEx)研究的长期结果,这些研究对年龄≥60岁的局灶性癫痫(FS)、伴/不伴局灶性至双侧强直-阵挛性癫痫(FBTCS)、伴/不伴酶促抗癫痫药物(EIASMs)的患者进行了辅助perampanel治疗。方法:研究307 (NCT00735397)包括一个转换期(16周,盲法)和一个维持期(256周)。研究335 OLEx (NCT01618695)包括预转化期(4周)、转化期(6周)和维持期(≥46周)。Perampanel (2 - 12mg /天)与1 - 3种asm同时给予,其中≤2(研究307)和≤1(研究335)为eiasm。对疗效和安全性结果进行分析。结果:71例年龄≥60岁的患者被纳入完整和安全分析集。4年后,癫痫发作频率下降,与使用EIASM无关;FS的发病自由率在第一年为0.0% (n = 0/71),第二年为2.6% (n = 1/38),第三年为5.3% (n = 1/19),第四年为0.0% (n = 0/14)。FBTCS,这些利率26.3%为1年(n = 5/19), 22.2% (n = 2/9), 40.0% (n = 2/5) 3, 0.0% (n = 0/4) 4。90%应答率FS≥14.0%,FBTCS≥40.0%。治疗后出现的不良事件(teae)发生率在第1年最高(87.3% [n = 62/71]),但在第2-4年下降(47.4% - 60.4%)。1/2年最常见的TEAE为头晕(分别为47.9% [n = 34/71]和12.5% [n = 6/48]), 3/4年为跌倒(15.8% [n = 3/19]和14.3% [n = 2/14])。意义:辅助perampanel对老年癫痫患者具有长期癫痫控制作用;安全性与已建立的窗格安全配置文件保持一致。
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引用次数: 0
Electro-clinical correlation of rinch and peri-ictal vegetative symptoms 颈部和周周植物性症状的电临床相关性
IF 1.5 Q3 CLINICAL NEUROLOGY Pub Date : 2025-10-09 DOI: 10.1016/j.ebr.2025.100831
Divya Nagabushana , Francesco Pucci , Huan Huynh , Julia Bodnya , Anna Serafini
Rhythmic ictal non-clonic hand (RINCH) movements and peri-ictal vegetative symptoms (PIVS) are rare semiological signs in temporal lobe epilepsy (TLE). RINCH refers to rhythmic, low-amplitude, complex hand movements that typically lateralize to the contralateral hemisphere, while PIVS includes manifestations such as ictal spitting and post-ictal coughing, more frequently associated with non-dominant TLE. We report a unique case of a 40-year-old woman with drug-resistant dominant TLE who exhibited both RINCH and PIVS as part of her habitual seizures. Non-invasive EEG and imaging localized the seizure onset to the left anterior temporal region. Stereoelectroencephalography (SEEG) confirmed seizure onset in the left mesial temporal pole with rapid propagation to the hippocampus, amygdala, and other limbic structures. Notably, RINCH was observed only in seizures that showed ictal spread to the superior temporal gyrus (STG) and superior temporal sulcus (STS), suggesting their role in mediating semi-automatic motor behaviors. Ictal spitting and other PIVS were linked to the spread to the entorhinal and parahippocampal regions. The patient underwent left anterior temporal lobectomy with histopathological confirmation of hippocampal sclerosis and has remained seizure-free at one-year follow-up. This case provides a rare anatomo-electro-clinical correlation of RINCH and PIVS using SEEG and emphasizes that while RINCH retains lateralizing value, PIVS may not. Our findings underscore the importance of invasive EEG in characterizing complex semiology and refining the epileptogenic zone in dominant TLE.
节律性突发性非阵挛性手(RINCH)运动和周周植物性症状(PIVS)是颞叶癫痫(TLE)罕见的符号学征象。RINCH指的是有节奏的、低幅度的、复杂的手部运动,通常向对侧半球偏侧,而PIVS包括发作时吐痰和发作后咳嗽等表现,更常与非显性TLE相关。我们报告一个独特的情况下,一个40岁的妇女抗药性显性TLE谁表现出RINCH和PIVS作为她的习惯性癫痫发作的一部分。无创脑电图和成像定位癫痫发作在左侧前颞区。立体脑电图(SEEG)证实癫痫发作于左内侧颞极,并迅速传播到海马、杏仁核和其他边缘结构。值得注意的是,RINCH仅在癫痫发作时表现出向颞上回(STG)和颞上沟(STS)的垂直扩散,这表明它们在调节半自动运动行为中起作用。口吐痰和其他PIVS与向内嗅和海马旁区扩散有关。患者接受了左侧颞叶前部切除术,组织病理学证实为海马硬化,并在一年的随访中保持无癫痫发作。本病例采用SEEG技术对RINCH和PIVS进行了罕见的解剖-电-临床相关性分析,并强调虽然RINCH保留了侧边定位的价值,但PIVS可能没有。我们的研究结果强调了侵入性脑电图在表征复杂的符号学和细化显性TLE的癫痫区方面的重要性。
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Epilepsy and Behavior Reports
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