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Mosaic CLTC pathogenic variant causing focal epilepsy with normal intelligence 马赛克CLTC致病变体导致智力正常的局灶性癫痫。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-05 DOI: 10.1002/epd2.20270
Michelle A. Sveistrup, Kenneth A. Myers
<p> <i>CLTC</i> (OMIM 118955) encodes clathrin heavy chain 1 (CLTC), a protein involved in the generation of envelopes that cover the cytoplasmic face of clathrin-covered intracellular organelles, in intracellular trafficking of receptors and endocytosis of many macromolecules, and in the stabilization of kinetochore fibers in the mitotic spindle.<span><sup>1-3</sup></span> CLTC is widely expressed in the brain and plays a role in neuronal transmission by facilitating the recycling and release of vesicles at the presynaptic termini of neurons.<span><sup>4</sup></span> Heterozygous <i>CLTC</i> pathogenic variants cause global developmental impairment, often accompanied by dysmorphic features, microcephaly, hypotonia, or ataxia.<span><sup>5-7</sup></span> Structural brain abnormalities occur in 80% of individuals, the most common being corpus callosum hypoplasia.<span><sup>6</sup></span> Seizures are reported in 38%, with both generalized and focal semiologies described; age of onset ranges from the neonatal period to adulthood, and seizures are usually pharmacoresponsive.<span><sup>6</sup></span> In this paper, we report the first patient with a mosaic <i>CLTC</i> pathogenic variant, in whom several unique clinical features were observed.</p><p>A 6-year-old girl, previously well and with normal developmental milestones, had a 2-week history of episodes of sudden fear and increased heart rate. With a typical event, she would run to a parent, saying she was frightened because monsters or thieves were trying to hurt her. Her heart rate was elevated during the events, and she sometimes had whole-body hyperkinetic movements. Duration of the events was usually 30 s and there was no apparent alteration in awareness. The events occurred from wakefulness or sleep, and frequency progressively increased to the point at which they occurred every 20–30 min.</p><p>The patient was initially referred to cardiology; after heart function was found to be normal, the neurology service was consulted. Continuous video EEG monitoring was initiated and 28 seizures were recorded during the first 17 h, despite carbamazepine and levetiracetam being initiated. Clinically, she had ictal hyperkinetic movements and tachycardia up to 200 beats/min. The interictal EEG showed abundant focal spikes, sharp waves, and spike–wave discharges over the frontal regions. During seizures, an evolving ictal rhythm was seen over the frontal regions, without clear laterality (Figure 1). Seizures were initially pharmacoresistant, and she received intravenous doses of midazolam, phenytoin, and phenobarbital. She eventually came under good control on combination therapy of valproic acid and clobazam.</p><p>From a developmental perspective, she walked and spoke her first word at 12 months. Motor and language milestones were all normal, though she was subsequently diagnosed with attention deficit disorder. She is of Lebanese background with no known consanguinity and no known family his
CLTC (OMIM 118955)编码网格蛋白重链1 (CLTC),这种蛋白质参与了覆盖网格蛋白覆盖的胞内细胞器细胞质表面的包膜的生成,参与了受体的胞内运输和许多大分子的内吞作用,以及有丝分裂纺锤体中着丝点纤维的稳定。1-3 CLTC在大脑中广泛表达,通过促进神经元突触前末端囊泡的循环和释放,在神经元传递中发挥作用杂合型CLTC致病性变异可引起全身性发育障碍,常伴有畸形、小头畸形、张力低下或共济失调。80%的个体发生结构性脑异常,最常见的是胼胝体发育不全38%的患者报告癫痫发作,有全身性和局灶性符号学描述;发病年龄从新生儿期到成年期不等,癫痫发作通常是药物反应性的在本文中,我们报告了第一例具有马赛克CLTC致病变异的患者,其中观察到一些独特的临床特征。1例6岁女童,既往健康,发育正常,有2周的突发恐惧发作史和心率加快。在一个典型的事件中,她会跑向父母,说她很害怕,因为怪物或小偷试图伤害她。在比赛中,她的心率升高,有时全身运动过度。这些事件的持续时间通常为30秒,并且意识没有明显的改变。这些事件发生在清醒或睡眠时,频率逐渐增加,每20-30分钟发生一次。患者最初被转介到心脏病科;心功能恢复正常后,就去神经科就诊。开始进行连续视频脑电图监测,尽管开始使用卡马西平和左乙拉西坦,但在前17小时内记录了28次癫痫发作。临床表现为急性运动亢进,心动过速高达200次/分。脑电图间期显示丰富的局灶尖波、尖波和额叶尖波放电。在癫痫发作期间,额叶区出现不断变化的节律,没有明显的侧偏(图1)。癫痫发作最初是耐药的,患者接受了咪达唑仑、苯妥英和苯巴比妥静脉注射。她最终在丙戊酸和氯巴唑的联合治疗下得到了良好的控制。从发展的角度来看,她在12个月大的时候就会走路和说话了。虽然她后来被诊断出患有注意力缺陷障碍,但运动和语言方面的进展都很正常。她具有黎巴嫩背景,没有已知的血缘关系,也没有已知的癫痫、智力发育障碍或其他神经系统疾病家族史。头部CT和MRI均正常。初诊时腰椎穿刺显示细胞计数、葡萄糖和蛋白正常;病毒和细菌测试,以及脑炎抗体面板,都是阴性的。包括2300多个基因的癫痫基因面板(GeneDx epexpexpanded panel)在外周血样本上进行,并鉴定出一种全新的镶嵌新型CLTC帧内缺失(c. 4744_4746del, p.(Val1582del) (NM_004859.3)),存在于53个测序读取的23%中。该变异在对照数据库中不存在,并根据美国医学遗传学和基因组学学院的标准(PS2, PM1, pmm2和PM4)被分类为致病性8患者家属为本文提供了书面同意。该患者的表现扩大了CLTC致病变异的表型谱,因为她是第一个被报道智力正常的个体。所有31例先前报道的致病性CLTC变异个体都有智力残疾,从轻度到重度不等。5-7较轻的发育表型可能是因为她有一个花叶致病变异,并不是所有的细胞都有CLTC功能障碍。然而,患者特定变异的影响也可能是相关的。在报告的cltc相关疾病患者中,变异类型包括移码、帧内、错义、无意义和剪接位点。5-7癫痫更常见于有错义变异或帧内缺失的患者,正如我们在这里报道的病例;然而,这些患者的发育障碍程度往往更严重,大脑结构异常也更常见患者的癫痫发作是局灶性意识,伴有恐惧和心动过速,有时也会出现过度运动。这些特征提示脑岛-眼区或内侧颞区可能有脑梗死灶头皮脑电图模式显示间歇期和间歇期的发现提示前灶,癫痫发作后出现不寻常的口吃模式。 总之,本研究扩展了与CLTC致病变异相关的表型谱,并证明即使在没有智力残疾的情况下,该基因也应被视为癫痫患者的病因。本研究由quacimac - santacima基金会资助。Sveistrup没有披露与手稿相关的信息。K.A. Myers是Ultragenyx和LivaNova赞助的研究的现场首席研究员,也是Jazz制药公司的咨询委员会成员。
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引用次数: 0
Reading-induced reflex orofacial myoclonia in an adolescent girl 一名少女因阅读引起的反射性口面肌张力障碍。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-27 DOI: 10.1002/epd2.20265
Xiaoli Wang, Shuyi Qu, Jinxiang Wang, Yonghong Liu
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引用次数: 0
Seizure emergency code strategy: Improving treatment times and hospital outcomes for patients with urgent epileptic seizures 癫痫发作紧急代码策略:改善癫痫紧急发作患者的治疗时间和住院效果。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-20 DOI: 10.1002/epd2.20273
Camilo Espinosa-Jovel, Sandra Riveros, Natalia Valencia-Enciso, Alberto Velásquez, Juan Vergara-Palma, Fidel Sobrino-Mejía

Objective

Timely treatment is one of the most relevant prognostic factors in patients with urgent epileptic seizures. Despite the available evidence, treatment times remain suboptimal. The aim of this study was to demonstrate the impact of the “seizure code” in an emergency department, focusing on both treatment times and hospital outcomes of patients with urgent epileptic seizures.

Methods

An ambispective cohort study was conducted in the emergency department of a public hospital in Bogotá, Colombia. Treatment times and hospital outcomes were evaluated both before and after the implementation of the seizure code.

Results

A total of 336 patients were included (94 in the pre-seizure code period and 242 in the post-seizure code period). Both cohorts were comparable in terms of clinical and demographic baseline characteristics. After the implementation of the seizure code, in-hospital treatment times improved among patients with status epilepticus and seizure cluster. For the group of patients with status epilepticus, the time from arrival to the first benzodiazepine decreased from a median of 100.5 min (IQR: 43–152.5) to a median of 20 min (IQR: 10–45) (p = .0063), and the time from arrival to the first non-benzodiazepine antiseizure medication decreased from a median of 155 min (IQR: 49–194) to a median of 39 min (IQR: 25–57) (p = .0071). For the group of patients with seizure cluster, the time from arrival to the first non-benzodiazepine antiseizure medication decreased from a median of 296 min (IQR: 112.5–409) to a median of 72 min (IQR: 46–111) (p < .001). The seizure code significantly decreased the risk of inappropriate benzodiazepine use (p = .0087), in-hospital seizure recurrence (p < .001), in-hospital mortality (p = .0074), and prolonged hospitalizations (more than 48 h) (p = .0475).

Significance

The seizure code shortens the time to treatment, reduces the length of hospital stay, decreases the risk of inappropriate benzodiazepine use, and lowers both the in-hospital seizure recurrence and in-hospital mortality among patients with urgent epileptic seizures.

目的:及时治疗是癫痫紧急发作患者最重要的预后因素之一。尽管已有证据表明,治疗时间仍然不够理想。本研究旨在证明 "癫痫发作代码 "对急诊科的影响,重点关注紧急癫痫发作患者的治疗时间和住院预后:在哥伦比亚波哥大一家公立医院的急诊科开展了一项前瞻性队列研究。方法:在哥伦比亚波哥大一家公立医院的急诊科开展了一项前瞻性队列研究,对实施癫痫发作代码前后的治疗时间和住院效果进行了评估:研究共纳入 336 名患者(其中 94 人在癫痫发作代码实施前,242 人在癫痫发作代码实施后)。两组患者在临床和人口统计学基线特征方面具有可比性。实施癫痫发作代码后,癫痫状态和癫痫群集患者的院内治疗时间有所缩短。对于癫痫状态组患者,从到达医院到首次使用苯二氮卓类药物的时间从中位数 100.5 分钟(IQR:43-152.5)缩短至中位数 20 分钟(IQR:10-45)(p = .0063),从到达医院到首次使用非苯二氮卓类抗癫痫药物的时间从中位数 155 分钟(IQR:49-194)缩短至中位数 39 分钟(IQR:25-57)(p = .0071)。对于癫痫群集患者组,从到达医院到首次使用非苯二氮卓抗癫痫药物的时间从中位数 296 分钟(IQR:112.5-409)缩短至中位数 72 分钟(IQR:46-111)(p 意义重大:癫痫发作代码缩短了治疗时间,缩短了住院时间,降低了不适当使用苯二氮卓类药物的风险,降低了紧急癫痫发作患者的院内癫痫复发率和院内死亡率。
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引用次数: 0
Superior lesion detection on 3D FSE T1WI with magnetization transfer and CHESS preparation pulses in children with focal epilepsy: Preliminary results 利用磁化转移和 CHESS 准备脉冲对局灶性癫痫患儿进行三维 FSE T1WI 病灶检测效果更佳:初步结果。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-16 DOI: 10.1002/epd2.20271
Xing-Chang Wei, Zarina Assis, Martin Sherriff, Walter J. Hader, Juan Pablo Appendino

In childhood drug-resistant focal epilepsy, the identification of a magnetic resonance imaging lesion significantly affects the management and prognosis, although it is often challenging. Herein we report the preliminary results of a modified MR sequence, in which both magnetization transfer and chemical shift selective preparation pulses are added to a 3D fast spin echo T1-weighted sequence to recognize focal cortical dysplasia. The scan time is short, and the images have expected uniform suppression of the background normal gray and white matter. We report four children with focal epilepsy, in whom the focal cortical and subcortical lesions are superiorly conspicuous on the aforementioned MR sequence compared to the high-resolution fluid-attenuated inversion recovery images obtained with typical epilepsy MR protocols.

在儿童耐药性局灶性癫痫中,磁共振成像病灶的识别会对治疗和预后产生重大影响,尽管这通常具有挑战性。在此,我们报告了一种改良磁共振序列的初步结果,即在三维快速自旋回波 T1 加权序列中加入磁化转移和化学位移选择性准备脉冲,以识别局灶性皮质发育不良。扫描时间短,图像对背景正常灰质和白质的抑制均匀。我们报告了四名局灶性癫痫患儿的情况,与采用典型癫痫磁共振方案获得的高分辨率液体衰减反转恢复图像相比,上述磁共振序列上的局灶性皮质和皮质下病变更为明显。
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引用次数: 0
A user's guide for the International Classification of Cognitive Disorders in Epilepsy 国际癫痫认知障碍分类》用户指南。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-14 DOI: 10.1002/epd2.20268
Bruce Hermann, Robyn M. Busch, Anny Reyes, Kayela Arrotta, Mayu Fujikawa, Victoria Ives-Deliperi, Aimee Dollman, Urvashi Shah, Carrie R. McDonald

To present the background, rationale, details pertaining to use and essential computational steps, synopsis of findings to date, and future directions for the International Classification of Cognitive Disorders in Epilepsy (IC-CoDE)—an initiative of the ILAE Neuropsychology Task Force. Examined are: (a) the 6 steps leading to the derivation of a cognitive phenotype from neuropsychological test data with an accompanying case example, (b) concise review of all IC-CoDE research to date, (c) summary of identified correlates of IC-CoDE outcomes, and (d) future research and clinical directions for the initiative. The IC-CoDE is computationally uncomplicated with individual or group data and represents a novel approach leading to new insights in the neuropsychology of epilepsy, with applications to diverse datasets internationally informing the reliability and validity of the approach. The IC-CoDE represents a novel approach to the analysis and interpretation of neuropsychological data in epilepsy that offers to advance a global taxonomy of cognitive disorders in epilepsy facilitating international collaboration and big data science.

介绍国际癫痫认知障碍分类(IC-CoDE)的背景、基本原理、使用细节和基本计算步骤、迄今为止的研究结果概要以及未来发展方向--IC-CoDE 是 ILAE 神经心理学工作组的一项倡议。研究内容包括(a) 从神经心理学测试数据推导出认知表型的 6 个步骤,并附有一个病例,(b) 迄今为止所有 IC-CoDE 研究的简要回顾,(c) IC-CoDE 结果的相关性总结,以及 (d) 该计划的未来研究和临床方向。IC-CoDE对个人或群体数据的计算并不复杂,它代表了一种新颖的方法,可为癫痫的神经心理学提供新的见解,在国际上对不同数据集的应用为该方法的可靠性和有效性提供了信息。IC-CoDE 是分析和解释癫痫病神经心理学数据的一种新方法,它有助于推动全球癫痫认知障碍分类学的发展,促进国际合作和大数据科学的发展。
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引用次数: 0
CASPR2-related epilepsy: A distinctive and unrecognized form of epilepsy in adult and elderly males CASPR2相关癫痫:成年男性和老年男性中一种独特且未被发现的癫痫形式
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-10 DOI: 10.1002/epd2.20269
Roberto Michelucci, Elena Pasini, Patrizia Riguzzi, Maria Tappatà, Maria Pia Giannoccaro, Elisa Micalizzi, Anastasia Lechiara, Pietro Mattioli, Luana Benedetti, Flavio Villani

Objective

The aim of this study was to describe the clinical features of contactin-associated protein-like 2 (CASPR2)-IgG-associated seizures.

Methods

Nine patients were retrospectively collected from two epilepsy centers. For each patient we obtained a full clinical, neurophysiological, and MRI study along with detection of antineuronal autoantibodies from serum and CSF. The patients were followed up for 1–6 years.

Results

The patients were nine male subjects aged 56–85 years (mean: 66) with a 1- to 14-year (mean: 6,3 median: 6) history of seizures. The seizures were classified as focal onset seizures with impaired awareness, usually preceded by epigastric aura (two), piloerection (two), olfactory hallucinations (two), nausea and dizziness (one). Tonic–clonic seizures were present in five patients. Seizure frequency was high in six cases and sporadic in three. Most patients reported memory impairment (eight) or behavioral/mood changes (four). Interictal EEGs usually showed bilateral or unilateral temporal epileptiform abnormalities. A number of seizures arising from the temporal lobes, with bilateral asynchronous onset, were recorded on long-term video-EEG monitoring in two patients. MRI disclosed nonspecific white matter T2 hyperintensities suggestive of chronic vascular changes in four patients and bilateral T2-FLAIR amygdalo-hippocampal hyperintensity in three cases. Neuropsychological study demonstrated various degrees of cognitive impairment in the majority of cases. Increased titers of CASPR2 autoantibodies were detected in the serum and CSF, which persisted over time in four cases. Drug resistance to common anti-seizure medications was present in seven cases who benefited from immunotherapy.

Significance

CASPR2-IgG testing should be performed among old male patients with a recent or even not recent onset of focal seizures with impaired awareness particularly when these seizures are accompanied by cognitive impairment or behavioral disturbances. In these cases, anti-seizure medications may be ineffective while immunotherapy may lead to a prompt improvement of seizures and cognitive deficits.

本研究旨在描述接触素相关蛋白样2(CASPR2)-IgG相关性癫痫发作的临床特征。我们对每位患者进行了全面的临床、神经电生理和核磁共振成像检查,并检测了血清和脑脊液中的抗神经元自身抗体。结果患者中有9名男性,年龄在56-85岁之间(平均66岁),有1-14年(平均6年,中位数为6年)的癫痫发作史。这些癫痫发作被归类为伴有意识障碍的局灶性发作,发作前通常伴有上腹部先兆(2 例)、朝圣(2 例)、嗅觉幻觉(2 例)、恶心和头晕(1 例)。五名患者出现强直阵挛发作。六例患者的发作频率较高,三例为偶发性发作。大多数患者报告有记忆障碍(8 例)或行为/情绪改变(4 例)。发作间期脑电图通常显示双侧或单侧颞部癫痫样异常。两名患者的长期视频脑电图监测记录到了一些由颞叶引起的、双侧不同步的癫痫发作。核磁共振成像显示,4名患者出现非特异性白质T2高密度,提示慢性血管病变,3名患者出现双侧杏仁核-海马T2-FLAIR高密度。神经心理学研究显示,大多数病例存在不同程度的认知障碍。血清和脑脊液中检测到CASPR2自身抗体滴度升高,其中4例患者的抗体滴度持续升高。意义对于近期甚至近期未出现意识障碍的局灶性癫痫发作的老年男性患者,尤其是伴有认知障碍或行为障碍的患者,应进行CASPR2-IgG检测。在这种情况下,抗癫痫药物可能无效,而免疫疗法可能会迅速改善癫痫发作和认知障碍。
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引用次数: 0
An interview with Elissa Yozawitz, the 2024 Epileptic Disorders Prize winner 采访 2024 年癫痫疾病奖获得者伊丽莎-约扎维茨。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-07 DOI: 10.1002/epd2.20262
Sándor Beniczky
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引用次数: 0
Exploring an unconventional presentation of Todd's paresis: Orbitofrontal epilepsy with postictal dysgeusia 探索托德瘫痪的非传统表现:伴有发作后言语障碍的轨道额叶癫痫。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-07-31 DOI: 10.1002/epd2.20267
Aura Gonzalez, Raluca Pana
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引用次数: 0
CM-Pf deep brain stimulation in polyneuromodulation for epilepsy 多神经调节治疗癫痫的 CM-Pf 深部脑刺激疗法。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-07-30 DOI: 10.1002/epd2.20255
W. O. Tatum, B. Freund, E. H. Middlebrooks, B. N. Lundstrom, A. M. Feyissa, J. J. Van Gompel, S. S. Grewal

Objective

Neuromodulation is a viable option for patients with drug-resistant epilepsies. We reviewed the management of patients with two deep brain neurostimulators. In addition, patients implanted with a device targeting the centromedian-parafascicular (CM-Pf) nuclear complex supplements this report to provide an illustrative case to implantation and programming a patient with three active devices.

Methods

A narrative review using PubMed and Embase identified patients with drug-resistant epilepsy implanted with more than one neurostimulator was performed. Combinations of vagus nerve stimulation (VNS), deep brain stimulation (DBS), and responsive neurostimulation (RNS) were identified. We provide a background of a newly reported case of an adult with a triple implant eventually responding to CM-Pf DBS as the third implant following suboptimal benefit from VNS and RNS.

Results

In review of the literature, dual-device therapy is increasing in reports of use with combinations of VNS, RNS, and DBS to treat patients with drug-resistant epilepsy. We review dual-device implants with thalamic DBS device combinations, functional neural networks, and programming patients with dual devices. CM-Pf is a new target for DBS and has shown a variable response in focal epilepsy. We report the unique case of 28-year-old male with drug-resistant focal epilepsy who experienced a 75% seizure reduction with CM-Pf DBS as his third device after suboptimal responses to VNS and RNS. After 9 months, he also experienced seizure freedom from recurrent focal to bilateral tonic–clonic seizures. No medical or surgical complications or safety issues were encountered.

Conclusion

We demonstrate safety and feasibility in an adult combining active VNS, RNS, and CM-Pf DBS. Patients with dual-device therapy who experience a suboptimal response to initial device use at optimized settings should not be considered a neuromodulation “failure.” Strategies to combine devices require a working knowledge of brain networks.

目的:对于耐药性癫痫患者来说,神经调控是一种可行的选择。我们回顾了使用两种脑深部神经刺激器的患者的治疗情况。此外,本报告还补充了植入以中央-副筋膜(CM-Pf)核复合体为靶点的装置的患者,为植入三个有源装置并进行编程的患者提供了一个说明性病例:利用 PubMed 和 Embase 进行了一项叙述性综述,确定了植入一种以上神经刺激器的耐药性癫痫患者。我们发现了迷走神经刺激(VNS)、脑深部刺激(DBS)和反应性神经刺激(RNS)的组合。我们提供了一个新报道病例的背景资料,该病例是一名成人,在接受 VNS 和 RNS 治疗后疗效不佳,最终使用 CM-Pf DBS 作为第三个植入物:根据文献回顾,双设备疗法的报道越来越多,包括使用 VNS、RNS 和 DBS 组合治疗耐药癫痫患者。我们对丘脑 DBS 装置组合的双装置植入、功能神经网络以及使用双装置对患者进行编程进行了综述。CM-Pf 是 DBS 的新靶点,在局灶性癫痫中显示出不同的反应。我们报告了一例独特的病例:28 岁的男性患者患有耐药性局灶性癫痫,在使用 VNS 和 RNS 反应不佳的情况下,使用 CM-Pf DBS 作为其第三个装置后,癫痫发作减少了 75%。9 个月后,他还摆脱了复发性局灶性强直阵挛发作。没有出现医疗或手术并发症或安全问题:我们证明了在一名成年人身上结合使用主动 VNS、RNS 和 CM-Pf DBS 的安全性和可行性。采用双设备治疗的患者,如果在优化设置下使用初始设备时出现不理想的反应,不应被视为神经调节 "失败"。组合设备的策略需要对大脑网络有所了解。
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引用次数: 0
Low-cost portable EEG device for bridging the diagnostic gap in resource-limited areas 用于缩小资源有限地区诊断差距的低成本便携式脑电图设备。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-07-26 DOI: 10.1002/epd2.20266
Sidsel Armand Larsen, Louise Klok, William Lehn-Schiøler, Radu Gatej, Sándor Beniczky

Objective

To develop a low-cost portable EEG system, with real-time automated guidance, for application in resource-limited areas, to bridge the diagnostic and treatment gap.

Methods

We designed, developed, and produced a low-cost system, which records 27-channel EEG plus ECG and streams the signals to an application on a smartphone, which assesses the quality of the signal and gives feedback to the inexperienced user to correct the poor quality signals and reduce artifacts. The application guides the inexperienced user through the steps of recording routine clinical EEG. The recordings are uploaded to a secure cloud, for telemedicine applications. We recruited 10 participants without prior experience with recording EEG. After a brief training session, the participants recorded EEGs following the guidance from the app, without help from human experts. We assessed the usability of the system, with the System Usability Scale (SUS), and we evaluated the impedances and signal quality of the test EEGs recorded by the inexperienced users.

Results

All users completed the test EEG recordings, and none of the recordings were of insufficient quality for clinical use. The SUS score was 90.3 ± 6.8, and the average quality rating was 8.04.

Significance

The low-cost, portable EEG system, which uses automated, real-time guidance for conducting EEG recordings, enables inexperienced users to record EEGs of a quality sufficient for clinical applications. This system has the potential to provide EEG services in resource-limited areas, and thereby help bridge the diagnostic and therapeutic gap.

目的:开发一种具有实时自动引导功能的低成本便携式脑电图系统,应用于资源有限的地区:开发一种具有实时自动指导功能的低成本便携式脑电图系统,应用于资源有限的地区,弥补诊断和治疗方面的差距:我们设计、开发并生产了一种低成本系统,该系统可记录 27 个通道的脑电图和心电图,并将信号流传输到智能手机上的应用程序,该应用程序可评估信号质量,并向缺乏经验的用户提供反馈,以纠正质量差的信号并减少伪影。该应用程序可指导缺乏经验的用户完成记录常规临床脑电图的步骤。记录上传到安全云端,用于远程医疗应用。我们招募了 10 名没有脑电图记录经验的参与者。在简短的培训课程后,参与者根据应用程序的指导记录脑电图,无需人工专家的帮助。我们使用系统可用性量表(SUS)评估了系统的可用性,并对没有经验的用户记录的测试脑电图的阻抗和信号质量进行了评估:结果:所有用户都完成了测试脑电图记录,无一记录质量不适合临床使用。SUS 评分为 90.3 ± 6.8,平均质量评分为 8.04:这套便携式脑电图系统成本低廉,使用自动实时指导进行脑电图记录,使缺乏经验的用户也能记录质量足以满足临床应用需要的脑电图。该系统有可能为资源有限的地区提供脑电图服务,从而帮助缩小诊断和治疗差距。
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Epileptic Disorders
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