Epileptic Disorders最新文献

英文中文

Diagnostic evaluation of patients with epileptic spasms in the era of next-generation sequencing 新一代测序时代癫痫痉挛患者的诊断评估。

IF 1.9 4区医学 Q3 CLINICAL NEUROLOGY

Epileptic Disorders

Pub Date : 2024-07-01 DOI: 10.1002/epd2.20259

Ali Mir, Mohammed AlQahtani, Fawzia Amer, Raidah AlBaradie, Wajd AlOtaibi, Fouad AlGhamdi, Hamoud Khallaf, Shahid Bashir, Gregory Costain, Liali Aljouda, Yousef Housawi

Objective

Epileptic spasms (ES) can be caused by a variety of etiologies. However, in almost half of cases, the etiology is unidentified. With the advent of next-generation sequencing (NGS), the recognition of genetic etiologies has increased.

Methods

We retrospectively reviewed the medical records of patients with ES who were evaluated in the comprehensive epilepsy program at King Fahad Specialist Hospital Dammam between 2009 and 2022.

Results

Our data show that in 57.7% of patients with ES, the etiology was unidentified after a standard clinical evaluation and neuroimaging. Of these patients, n = 25 (35.2%) received a genetic diagnosis after some form of genetic testing, and 3.1% of patients from specialized metabolic work indicated the need for genetic testing to confirm the diagnosis. Karyotyping led to a diagnosis in 3.6% of patients, and chromosomal microarray led to a diagnosis in 7.1%. An NGS epilepsy gene panel (EP) was done for 45 patients, leading to a diagnosis in 24.4% (n = 11). Exome sequencing was done for 27 patients, including n = 14 with non-diagnostic panel testing; it led to a diagnosis in 37.3% (n = 10). Exome sequencing led to a diagnosis in 61.5% of patients without a previous panel test and in only two patients who had previously had a negative panel testing.

Significance

In this article, we present the diagnostic evaluations of ES for a cohort of 123 patients and discuss the yield and priority of NGS for evaluating ES. Our findings suggest that exome sequencing has a higher diagnostic yield for determining the etiology of ES in patients for whom the etiology is still unclear after an appropriate clinical assessment and a brain MRI.

目的：癫痫性痉挛（ES）可由多种病因引起。然而，几乎有一半的病例病因不明。随着下一代测序技术（NGS）的出现，对遗传病因的认识也在不断提高：我们回顾性审查了 2009 年至 2022 年期间在达曼法赫德国王专科医院接受综合癫痫项目评估的 ES 患者的病历：我们的数据显示，57.7%的 ES 患者在经过标准临床评估和神经影像学检查后病因不明。在这些患者中，n = 25（35.2%）人在经过某种形式的基因检测后获得了基因诊断，3.1%的专业代谢工作患者表示需要进行基因检测以确诊。有 3.6% 的患者通过核型检查确诊，7.1% 的患者通过染色体微阵列检查确诊。对 45 名患者进行了 NGS 癫痫基因面板 (EP)，结果 24.4% 的患者（n = 11）确诊。对 27 例患者进行了外显子组测序，其中包括 14 例未进行诊断性基因组检测的患者；37.3% 的患者（10 例）通过外显子组测序确诊。外显子组测序使61.5%既往未进行过全套检测的患者获得了诊断，只有两名既往全套检测结果为阴性的患者获得了诊断：在这篇文章中，我们介绍了对一组 123 名患者进行的 ES 诊断评估，并讨论了 NGS 在评估 ES 方面的收益和优先权。我们的研究结果表明，对于经过适当的临床评估和脑磁共振成像检查后病因仍不明确的患者，外显子组测序在确定 ES 病因方面具有更高的诊断率。

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引用次数: 0

Pupillary constriction on stimulation of the parietal cortex—A novel finding 刺激顶叶皮层时瞳孔收缩--一项新发现

IF 1.9 4区医学 Q3 CLINICAL NEUROLOGY

Epileptic Disorders

Pub Date : 2024-06-29 DOI: 10.1002/epd2.20252

Brin Freund, Dileep Nair, Juan Bulacio, Imad Najm, Kenneth Taylor, Ahsan N. Moosa

Pupillary changes can be an important semiologic feature in focal epilepsy. Though the subcortical networks involving pupillomotor function have been described, cortical generators of pupillary dilation and constriction in humans are not well known. In this report, we describe a case of pupillary constriction occurring during seizures in a patient with drug resistant focal epilepsy. On stereoelectroencephalography, onset was noted within the posterior segment of the right intraparietal sulcus and direct cortical electrical stimulation of these electrode contacts reproduced pupillary constriction associated with habitual seizures. This is the first case report to describe ictal pupillary constriction during SEEG with confirmation of the cortical localization by direct cortical electrical stimulation. The posterior segment of the right intraparietal sulcus localization of pupillary constriction may aid in surgical evaluation patients with drug resistant focal epilepsy.

瞳孔变化是局灶性癫痫的一个重要特征。虽然涉及瞳孔运动功能的皮层下网络已被描述，但人类瞳孔扩张和收缩的皮层发生器还不太为人所知。在本报告中，我们描述了一例在癫痫发作期间发生瞳孔收缩的耐药性局灶性癫痫患者。立体脑电图显示，发病部位位于右侧顶内沟后段，直接对这些电极触点进行皮层电刺激可再现与习惯性癫痫发作相关的瞳孔收缩。这是首例描述 SEEG 期间发作性瞳孔收缩并通过直接皮质电刺激确认皮质定位的病例报告。右顶叶内沟后段瞳孔收缩的定位有助于对耐药局灶性癫痫患者进行手术评估。

引用次数: 0

Advancing international cooperation: An Italian survey on epilepsy projects 推进国际合作：意大利癫痫项目调查。

IF 1.9 4区医学 Q3 CLINICAL NEUROLOGY

Epileptic Disorders

Pub Date : 2024-06-29 DOI: 10.1002/epd2.20257

Jacopo Mattia Rovarini, Francesco Brigo, Maria Paola Canevini, Oriano Mecarelli, Maria Teresa Perenchio, Federica Silvia Ricci, Fabrizio Monti

引用次数: 0

Comment on: Soft cerebellar signs unveil RARS2-related epilepsy 评论小脑软体征揭示了与 RARS2 有关的癫痫。

IF 1.9 4区医学 Q3 CLINICAL NEUROLOGY

Epileptic Disorders

Pub Date : 2024-06-29 DOI: 10.1002/epd2.20258

Sara Bellido-Cuéllar, Ana Arteche-López, Miguel A. Martín, Rosa Ana Saiz-Díaz, Jesús González de la Aleja

引用次数: 0

Reply to: Comment on Soft cerebellar signs unveil RARS2-related epilepsy 回复：评论：小脑软体征揭示 RARS2 相关性癫痫。

IF 1.9 4区医学 Q3 CLINICAL NEUROLOGY

Epileptic Disorders

Pub Date : 2024-06-29 DOI: 10.1002/epd2.20260

Vidal Yahya, Robertino Dilena, Edoardo Monfrini

引用次数: 0

The international league against epilepsy primary healthcare educational curriculum: Assessment of educational needs 国际抗癫痫联盟初级医疗保健教育课程：教育需求评估。

IF 1.9 4区医学 Q3 CLINICAL NEUROLOGY

Epileptic Disorders

Pub Date : 2024-06-26 DOI: 10.1002/epd2.20256

Gagandeep Singh, Patricia Braga, Jaime Carrizosa, Marielle Prevos-Morgant, Man Mohan Mehndiratta, Priscilla Shisler, Chahnez Triki, Samuel Wiebe, Jo Wilmshurst, Ingmar Blümcke

Objective

To assess the need for an epilepsy educational curriculum for primary healthcare providers formulated by the International League Against Epilepsy (ILAE) and the importance attributed to its competencies by epilepsy specialists and primary care providers and across country-income settings.

Methods

The ILAE primary care epilepsy curriculum was translated to five languages. A structured questionnaire assessing the importance of its 26 curricular competencies was posted online and publicized widely to an international community. Respondents included epilepsy specialists, primary care providers, and others from three World Bank country-income categories. Responses from different groups were compared with univariate and ordinal logistic regression analyses.

Results

Of 785 respondents, 60% noted that a primary care epilepsy curriculum did not exist or they were unaware of one in their country. Median ranks of importance for all competencies were high (very important to extremely important) in the entire sample and across different groups. Fewer primary care providers than specialists rated the following competencies as extremely important: definition of epilepsy (p = .03), recognition of seizure mimics (p = .02), interpretation of test results for epilepsy care (p = .001), identification of drug-resistant epilepsy (0.005) and management of psychiatric comorbidities (0.05). Likewise, fewer respondents from LMICs in comparison to UMICs rated 15 competencies as extremely important.

Significance

The survey underscores the unmet need for an epilepsy curriculum in primary care and the relevance of its competencies across different vocational and socioeconomic settings. Differences across vocational and country income groups indicate that educational packages should be developed and adapted to needs in different settings.

目的评估国际抗癫痫联盟（ILAE）为初级医疗保健提供者制定的癫痫教育课程的必要性，以及癫痫专家和初级医疗保健提供者对其能力的重视程度，以及不同国家-收入环境对其能力的重视程度：方法：将 ILAE 初级医疗癫痫课程翻译成五种语言。方法：将 ILAE 初级护理癫痫课程翻译成了五种语言，并在网上发布了一份结构化问卷，评估其 26 项课程能力的重要性，并向国际社会广泛宣传。受访者包括癫痫专家、初级保健提供者以及来自世界银行三个国家收入类别的其他人。通过单变量和序数逻辑回归分析对不同群体的回答进行了比较：结果：在 785 名受访者中，60% 的受访者表示本国没有或不知道有初级保健癫痫课程。在所有样本和不同群体中，所有能力的重要性中位数都很高（非常重要到极其重要）。将以下能力评为极其重要的初级医疗服务提供者少于专科医生：癫痫的定义（p = .03）、癫痫发作模拟物的识别（p = .02）、癫痫护理测试结果的解释（p = .001）、耐药性癫痫的识别（0.005）和精神科合并症的管理（0.05）。同样，来自低收入和中等收入国家的受访者中将 15 项能力评为极其重要的人数少于来自低收入和中等收入国家的受访者：意义：这项调查强调了基层医疗机构对癫痫课程的需求尚未得到满足，以及其能力在不同职业和社会经济环境中的相关性。不同职业和国家收入群体之间的差异表明，应根据不同环境的需求开发和调整教育包。

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引用次数: 0

A retrospective study of the yield of next-generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0–12 years aged children at a single tertiary care hospital in South India 一项回顾性研究，探讨新一代测序技术在南印度一家三甲医院诊断0-12岁儿童发育性癫痫性脑病和癫痫性脑病中的应用。

IF 1.9 4区医学 Q3 CLINICAL NEUROLOGY

Epileptic Disorders

Pub Date : 2024-06-24 DOI: 10.1002/epd2.20254

Manasa C. Murthy, Bidisha Banerjee, Mitesh Shetty, Manikandan Mariappan, Akansha Sekhsaria

Objective

Studies on the genetic yield of developmental and epileptic encephalopathy and Epileptic encephalopathies using next-generation sequencing techniques are sparse from the Indian subcontinent. Hence, the study was conducted to assess the yield of genetic testing and the proportion of children where a positive genetic yield influenced treatment decisions.

Methods

In this retrospective observational study, electronic medical records of children (0–12 years) with suspected genetic epilepsy who underwent genetic testing using whole exome sequencing, focused exome sequencing and epilepsy gene panels were retrieved. Genetic yield was ascertained based on the detection of pathogenic and likely pathogenic variants.

Results

A total of 100 patients with epilepsy underwent genetic testing. A yield of 53.8% (42/78) was obtained. Pathogenic variants were identified in 18 (42.8%) cases and likely pathogenic variants in 24 (57.1%) cases. Yield was 66.6% each through whole exome sequencing, focused exome sequencing and 40% through Epilepsy gene panels (p = .07). Yield was not statistically significant across different age groups (p = .2). It was however found to significantly vary across different epilepsy syndromes with maximum yield in Epilepsy in infancy with migrating focal seizures in 2 (100%), followed by developmental and epileptic encephalopathy unspecified in 14 (77.7%), Dravet syndrome in 14 (60.8%), early infantile developmental and epileptic encephalopathy in 3 (60%), infantile epileptic spasm syndrome in 5 (35.7%), and other epileptic encephalopathies in 4 (30.7%) cases (p = .04). After genetic diagnosis and drug optimization, drug-refractory proportion reduced from 73.8% to 45.3%. About half of the cases achieved seizure control.

Significance

A reasonably high yield of 53.8% was obtained irrespective of the choice of panel or exome or age group using next-generation sequencing-based techniques. Yield was however higher in certain epilepsy syndromes and low in Infantile epileptic spasms syndrome. A specific genetic diagnosis facilitated tailored treatment leading to seizure freedom in 28.6% and marked seizure reduction in 54.7% cases.

目的：印度次大陆利用新一代测序技术对发育性脑病、癫痫性脑病和癫痫性脑病遗传率的研究很少。因此，本研究旨在评估基因检测的结果，以及基因检测结果呈阳性对治疗决策产生影响的患儿比例：在这项回顾性观察研究中，检索了疑似遗传性癫痫儿童（0-12 岁）的电子病历，这些儿童接受了全外显子组测序、聚焦外显子组测序和癫痫基因面板的基因检测。根据致病变异和可能致病变异的检测结果确定基因产量：共有 100 名癫痫患者接受了基因检测。结果：共有 100 名癫痫患者接受了基因检测，检测率为 53.8%（42/78）。在 18 个病例（42.8%）中发现了致病变体，在 24 个病例（57.1%）中发现了可能致病的变体。通过全外显子组测序、聚焦外显子组测序和癫痫基因组测序获得的阳性率分别为66.6%和40%（p = .07）。在不同年龄组中，收益率没有统计学意义（p = .2）。然而，研究发现，不同癫痫综合征的基因组测序结果差异很大，其中婴儿癫痫伴移灶性癫痫发作的基因组测序结果最高，有 2 例（100%），其次是发育性和癫痫性脑病未指定的基因组测序结果，有 14 例（77.7%），14 例（60.8%）为德拉韦综合征（Dravet syndrome），3 例（60%）为婴儿早期发育和癫痫性脑病，5 例（35.7%）为婴儿癫痫痉挛综合征，4 例（30.7%）为其他癫痫性脑病（P = .04）。经过基因诊断和药物优化后，药物难治性比例从 73.8% 降至 45.3%。约半数病例的癫痫发作得到了控制：意义：使用基于新一代测序的技术，无论选择的是面板或外显子组还是年龄组，都能获得 53.8% 的相当高的检出率。不过，某些癫痫综合征的诊断率较高，而婴儿癫痫痉挛综合征的诊断率较低。具体的基因诊断有助于进行有针对性的治疗，28.6%的病例摆脱了癫痫发作，54.7%的病例明显减少了癫痫发作。

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引用次数: 0

Characteristics and treatment of midlife-onset epilepsy: A 24-year single-center, retrospective study 中年癫痫的特征和治疗：一项为期 24 年的单中心回顾性研究。

IF 1.9 4区医学 Q3 CLINICAL NEUROLOGY

Epileptic Disorders

Pub Date : 2024-06-19 DOI: 10.1002/epd2.20253

Xu Zhang, Feng Xiang, Xiaobing Shi, Ziyu Wang, Yang Li, Shimin Zhang, Xiaoyang Lan, Senyang Lang, Xiangqing Wang

Objective

This study aimed to analyze the clinical characteristics, etiology, and treatment of midlife-onset epilepsy in a real-world setting at a single center in China.

Methods

The clinical data of patients who attended the epilepsy clinic of the Department of Neurology, First Medical Center of Chinese PLA General Hospital from February 1999 to March 2023 were retrospectively analyzed. The clinical characteristics, etiology, and risk factors for midlife-onset epilepsy over the past 24 years were analyzed.

Results

Of the 969 patients with onset at 45–64 years of age, 914 were diagnosed with epilepsy with at least two unprovoked seizures 24 h apart. Of those, 99.7% (911) were of focal origin. The median duration from the initial seizure to follow-up treatment was 2 months (interquartile range [IQR]: 1.0–6.0 months). Before commencing treatment, 30.2% (207/683) of patients experienced more than two seizures. A structural etiology was found in 66.3% (606/914) of patients. Cerebrovascular disease (CVD) and traumatic brain injury (TBI) accounted for 19.9% (182/914) and 16.6% (152/914) of the cases, respectively. Logistic regression analysis showed that patients with abnormal imaging (odds ratio [OR] 2.04; 95% confidence interval [CI] 1.25–3.32; p = .004), focal seizures (OR 2.98; 95%CI 1.82–4.87; p < .001), and seizure clusters (OR 2.40; 95%CI 1.21–4.73; p = .01) had poor drug responses. Treatment outcomes were generally better in patients with epilepsy after CVD (OR .49; 95%CI .28–.85; p = .01). Treatment initiation after two seizures (OR .70; 95%CI .42–1.15; p = .16) or 6 months after the first seizure (OR 1.17; 95%CI .66–2.09; p = .58) did not result in poor drug effectiveness.

Significance

Midlife-onset epilepsy is typically of focal etiology, with CVD being the most common cause, and tends to respond well to medication. The median duration from the initial seizure to follow-up treatment was 2 months. Over 30% of patients experienced more than two seizures before commencing treatment, but this did not affect subsequent outcomes.

研究目的本研究旨在分析中国单个中心中年癫痫的临床特点、病因和治疗方法：方法：回顾性分析1999年2月至2023年3月在中国人民解放军总医院第一医学中心神经内科癫痫门诊就诊患者的临床资料。分析了过去24年中年癫痫的临床特征、病因和危险因素：在 969 名 45-64 岁发病的患者中，有 914 人被诊断为癫痫，且至少有两次无诱因癫痫发作相隔 24 小时。其中，99.7%（911 人）为局灶性癫痫。从首次癫痫发作到后续治疗的中位时间为 2 个月（四分位数间距 [IQR]：1.0-6.0 个月）。在开始治疗前，30.2%（207/683）的患者经历过两次以上的癫痫发作。66.3%的患者（606/914）找到了结构性病因。脑血管疾病（CVD）和脑外伤（TBI）分别占 19.9%（182/914）和 16.6%（152/914）。逻辑回归分析显示，影像学异常（几率比 [OR] 2.04；95% 置信区间 [CI]1.25-3.32；P = .004）、局灶性癫痫发作（OR 2.98；95%CI 1.82-4.87；P 意义重大：中年期发病的癫痫通常是局灶性病因，心血管疾病是最常见的病因，而且往往对药物治疗反应良好。从首次发作到后续治疗的中位持续时间为 2 个月。超过30%的患者在开始治疗前经历了两次以上的癫痫发作，但这并不影响后续治疗效果。

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引用次数: 0

Characteristics of malignant brain tumor-associated epileptic spasms 恶性脑肿瘤相关癫痫痉挛的特征。

IF 1.9 4区医学 Q3 CLINICAL NEUROLOGY

Epileptic Disorders

Pub Date : 2024-06-18 DOI: 10.1002/epd2.20240

Naoki Yamada, Ichiro Kuki, Masataka Fukuoka, Megumi Nukui, Takeshi Inoue, Ryoko Umaba, Noritsugu Kunihiro, Kai Yamasaki, Takehiro Uda, Hiroyuki Fujisaki, Shin Okazaki

Although epilepsy is the most common comorbidity of brain tumors, epileptic spasms rarely occur. Brain tumors associated with epileptic spasms are mostly low-grade gliomas. To date, few studies in the literature have reported on malignant (Grades 3–4) brain tumors associated with epileptic spasms. Thus, we aimed to investigate the characteristics of malignant brain tumor-associated epileptic spasms. We retrospectively reviewed patients with malignant brain tumors and epileptic spasms in our institution. Data on demographics, tumor histology, magnetic resonance imaging, epileptic spasm characteristics, electroencephalography, and treatment responsiveness were also collected. Six patients were included. In all cases, the brain tumors occurred in infancy in the supratentorial region and epileptic spasm onset occurred after the completion of brain tumor treatment. Anti-seizure medication did not control epileptic spasms; two patients were seizure-free after epileptic surgery. Although all patients had developmental delays caused by malignant brain tumors and their treatment, developmental regression proceeded after epileptic spasm onset. Two patients who achieved seizure-free status showed improved developmental outcomes after cessation of epileptic spasms. This is the first report of the characteristics of malignant brain tumor-associated epileptic spasms. Our report highlights a difficulties of seizure control and possibillity of efficacy of epileptic surgery in this condition. In malignant brain tumor-associated epileptic spasms, it is important to proceed with presurgical evaluation from an early stage, bearing in mind that epileptic spasms may become drug-resistant.

虽然癫痫是脑肿瘤最常见的并发症，但癫痫性痉挛却很少发生。与癫痫性痉挛相关的脑肿瘤大多是低级别胶质瘤。迄今为止，很少有文献报道与癫痫性痉挛相关的恶性（3-4 级）脑肿瘤。因此，我们旨在研究恶性脑肿瘤相关癫痫性痉挛的特征。我们回顾性研究了本院的恶性脑肿瘤和癫痫痉挛患者。我们还收集了有关人口统计学、肿瘤组织学、磁共振成像、癫痫痉挛特征、脑电图和治疗反应性的数据。共纳入六名患者。所有病例的脑肿瘤都发生在婴儿期，位于脑室上区，癫痫痉挛发生在脑肿瘤治疗结束后。抗癫痫药物无法控制癫痫痉挛；两名患者在癫痫手术后不再发作。虽然所有患者都曾因恶性脑肿瘤及其治疗而导致发育迟缓，但在癫痫痉挛发作后，他们的发育都出现了倒退。两名无癫痫发作的患者在癫痫痉挛停止后发育情况有所改善。这是第一份关于恶性脑肿瘤相关癫痫痉挛特征的报告。我们的报告强调了控制癫痫发作的困难以及癫痫手术在这种情况下的疗效。对于恶性脑肿瘤相关性癫痫性痉挛，从早期开始进行手术前评估非常重要，因为癫痫性痉挛可能会产生耐药性。

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引用次数: 0

Dancing sugar! A case of epilepsia partialis continua and subsequent belly dancing syndrome in a patient with a hyperosmolar hyperglycemic state 跳舞的糖一例高渗性高血糖患者的部分性癫痫持续状态和随后的肚皮舞综合征。

IF 1.9 4区医学 Q3 CLINICAL NEUROLOGY

Epileptic Disorders

Pub Date : 2024-06-06 DOI: 10.1002/epd2.20241

Davide Liviello, Sara Cipollone, Clarissa Corniello, Giacomo Evangelista, Laura Marzetti, Mirella Russo, Marco Onofrj, Fedele Dono, Stefano Sensi

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引用次数: 0

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