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Epilepsy with eyelid myoclonia in a patient with ATP1A3-related neurologic disorder 一名患有 ATP1A3 相关神经系统疾病的患者癫痫伴眼睑肌张力障碍。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-05 DOI: 10.1002/epd2.20272
Ann Mertens, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Gaëtan Lesca, Mateusz Biela, Robert Smigiel, Eleni Panagiotakaki

We report on an 11 year old Polish girl who experienced paroxysmal episodes with decreased consciousness, (hemi)plegia, movement disorders, slurred speech, dysphagia, and abnormal eye movements. An extensive etiological work-up (brain MRI, EEG, EMG, NCS, toxic, metabolic, infectious, and auto-immune screening) was not conclusive. A genetic analysis with whole-exome sequencing demonstrated a de novo heterozygous mutation in the ATP1A3 gene (c.2232C>G, p.Asn744Lys). A 48 h video-EEG monitoring that was conducted in our unit later confirmed the absence of ictal discharge during an episode of hemidystonia, demonstrating its non-epileptic etiology. However, several discharges of generalized spike waves, which were facilitated by intermittent photic stimulation and eyelid closure were recorded, of which a few were associated with eyelid myoclonia. Taken together, these findings are characteristic of epilepsy with eyelid myoclonia. The clinical picture of this patient partially fulfills the diagnostic criteria of relapsing encephalopathy with cerebellar ataxia as well as alternating hemiplegia of childhood. It is increasingly recognized that the distinct syndromes described with ATP1A3 mutations are overlapping and could be identified in the same patients. Certain variations in ATP1A3 have been linked to an increased risk of developing generalized epilepsy syndromes. We hereby present the second case in the literature of a patient with epilepsy with eyelid myoclonia with an ATP1A3-related neurological disorder.

我们报告了一名 11 岁波兰女孩的病例,她阵发性发作,伴有意识减退、(半)截瘫、运动障碍、言语不清、吞咽困难和眼球运动异常。广泛的病因检查(脑磁共振成像、脑电图、肌电图、NCS、毒性、代谢、感染和自身免疫筛查)均未得出结论。通过全外显子组测序进行的基因分析表明,ATP1A3 基因发生了新的杂合突变(c.2232C>G,p.Asn744Lys)。后来,本单位进行的 48 小时视频脑电图监测证实,在一次发作性肌张力障碍中没有发作性放电,这证明其病因与癫痫无关。然而,在间歇性光刺激和眼睑闭合的作用下,记录到了一些泛发性尖波放电,其中少数与眼睑肌张力障碍有关。综上所述,这些发现是眼睑肌张力障碍性癫痫的特征。该患者的临床表现部分符合复发性脑病伴小脑共济失调以及儿童交替性偏瘫的诊断标准。越来越多的人认识到,ATP1A3 基因突变导致的不同综合征是相互重叠的,可以在同一患者身上发现。ATP1A3 的某些变异与全身性癫痫综合征的发病风险增加有关。我们在此介绍文献中第二例伴有眼睑肌张力障碍的癫痫患者,该患者患有与 ATP1A3 相关的神经系统疾病。
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引用次数: 0
Efficacy of creatine supplementation in a patient with epilepsy with SLC6A8 gene mutations 补充肌酸对一名 SLC6A8 基因突变癫痫患者的疗效。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-05 DOI: 10.1002/epd2.20277
Yiqi Zhang, Xianyun Liu, Xi Peng
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引用次数: 0
Quality of life and cannabis use among patients with drug-resistant epilepsy—An observational study from a Canadian tertiary care referral center 耐药性癫痫患者的生活质量和大麻使用情况--一项来自加拿大三级医疗转诊中心的观察性研究。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-05 DOI: 10.1002/epd2.20276
Kanika Jhanji, Zaitoon Shivji, Marion Lazaj, Lysa Boisse Lomax, Gavin P. Winston, Garima Shukla

Objective

Very few publications have reported the impact of artisanal cannabis use on overall quality of life among people with drug-resistant epilepsy. This study aimed to evaluate the association of artisanal cannabis use among adults with drug-resistant epilepsy with quality of life, and to determine if an association exists between Quality-of-Life in Epilepsy Inventory-31 (QOLIE-31) ‘T scores’ and different clinical variables.

Methods

This study included patients admitted to a Canadian tertiary care epilepsy center as part of a larger study. These patients were confirmed to have drug-resistant epilepsy by an epileptologist at the Ambulatory Epilepsy Clinic. Patients were categorized into cannabis users (CAN group) (n = 25) and Non-cannabis users (Non-CAN group) (n = 21). Data was collected on RedCap® for epilepsy and cannabis use details. These were analyzed for an association using a binary multivariable logistic regression model between QOLIE-31 ‘T scores’ and age, sex, epilepsy duration, age at initiation of use, duration of cannabis use and psychiatric related comorbidity for all patients. Additionally, different ‘T subscores’ of the questionnaire were compared between the CAN group and Non-CAN group.

Results

A statistically significant difference between the CAN group and Non-CAN group for the T subscore ‘energy and fatigue’ (p = .004) was found, with the CAN group scoring higher. However, for the ‘overall T score’ between the two groups there was no statically significant difference (p = .11). Additionally, a significant negative correlation between ‘overall T score’ and cannabis use disorder (p = .032) was found.

Significance

This study provides new data on association of quality of life in epilepsy with cannabis use and can serve as a foundation for larger future studies to better assess this association.

目的:很少有出版物报道吸食手工大麻对耐药性癫痫患者整体生活质量的影响。本研究旨在评估成人耐药性癫痫患者吸食手工大麻与生活质量之间的关系,并确定《癫痫生活质量调查表-31》(QOLIE-31)"T 评分 "与不同临床变量之间是否存在关联:这项研究包括加拿大一家三级护理癫痫中心收治的患者,是一项大型研究的一部分。这些患者经非住院癫痫门诊的癫痫专科医生确诊为耐药性癫痫。患者被分为大麻使用者(CAN 组)(n = 25)和非大麻使用者(Non-CAN 组)(n = 21)。在 RedCap® 上收集了有关癫痫和大麻使用详情的数据。使用二元多变量逻辑回归模型分析了所有患者的 QOLIE-31 "T 分数 "与年龄、性别、癫痫持续时间、开始使用的年龄、使用大麻的持续时间和精神病相关合并症之间的关联。此外,还对 CAN 组和非 CAN 组之间问卷的不同 "T 子分数 "进行了比较:结果:CAN 组和非 CAN 组在 "精力和疲劳 "的 T 子得分上存在明显差异(p = 0.004),CAN 组得分更高。然而,在 "总体 T 分 "方面,两组之间没有明显的统计学差异(p = .11)。此外,研究还发现 "总 T 分 "与大麻使用障碍之间存在明显的负相关(p = .032):本研究为癫痫患者的生活质量与大麻使用之间的关联提供了新数据,可作为今后开展更大规模研究的基础,以更好地评估这种关联。
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引用次数: 0
Primary treatment gap among adults with epilepsy: A cross-sectional analysis 成人癫痫患者的初级治疗差距:横断面分析。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-05 DOI: 10.1002/epd2.20275
Housam Soboh, Jacques Theitler, Revital Gandelman-Marton

Objective

Despite recommendations to initiate antiseizure medication treatment once the diagnosis of epilepsy is confirmed, a certain proportion of patients with epilepsy who should receive antiseizure medication treatment remain untreated. We aimed to evaluate the rate of and the reasons for the treatment gap in patients with epilepsy who were referred to their first visit in our epilepsy clinic.

Methods

We retrospectively reviewed the computerized database and the medical records of all the patients with epilepsy who had their first visit in our outpatient epilepsy clinic during a 10-year period (2012–2021).

Results

Forty-nine (6.5%) of 746 patients with epilepsy were not treated with antiseizure medications: 27 (3.6%) were nonadherent to treatment, 12 (1.6%) patients were not definitively diagnosed with epilepsy prior to their first epilepsy clinic visit, and in 10 (1.3%) patients antiseizure medication treatment was not recommended. Untreated patients had shorter epilepsy duration compared to patients treated with antiseizure medications (p = .003). At last follow-up, 77% of the untreated patients at first visit were receiving antiseizure medications compared to 97% of the initially treated group, and fewer were receiving antiseizure medication polytherapy (p = .0001).

Significance

Although the rate of treatment gap was relatively low, we believe that it should be further reduced. Efforts may focus on addressing individual causes of nonadherence to antiseizure medication treatment and on promoting knowledge of diagnosis and treatment of epilepsy among healthcare professionals.

目的:尽管有建议称一旦确诊为癫痫就应开始抗癫痫药物治疗,但仍有一部分本应接受抗癫痫药物治疗的癫痫患者未得到治疗。我们的目的是评估在本院癫痫门诊首次就诊的转诊癫痫患者中出现治疗空白的比例和原因:我们回顾性地查看了计算机数据库和所有癫痫患者的病历,这些患者都是在 10 年内(2012-2021 年)首次到我院癫痫门诊就诊的:746名癫痫患者中有49人(6.5%)未接受抗癫痫药物治疗:27名患者(3.6%)未坚持治疗,12名患者(1.6%)在首次就诊前未被明确诊断为癫痫,10名患者(1.3%)未被建议接受抗癫痫药物治疗。与接受抗癫痫药物治疗的患者相比,未接受治疗的患者癫痫持续时间更短(p = .003)。在最后一次随访时,首次就诊时未接受治疗的患者中有 77% 正在接受抗癫痫药物治疗,而最初接受治疗的患者中有 97%,接受抗癫痫药物多重治疗的患者较少(p = .0001):虽然治疗差距率相对较低,但我们认为应进一步缩小差距。努力的重点可能是解决不坚持抗癫痫药物治疗的个别原因,以及向医护人员宣传癫痫诊断和治疗知识。
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引用次数: 0
Acute symptomatic seizures in patients with recurrent ischemic stroke: A multicentric study 复发性缺血性脑卒中患者的急性症状性癫痫发作:一项多中心研究。
IF 1.9 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-05 DOI: 10.1002/epd2.20279
Miguel Leal Rato, Miguel Schön, Maria Paula Zafra, Diana Aguiar de Sousa, Teresa Pinho e Melo, Ana Catarina Franco, Ana Rita Peralta, Carolina Ferreira-Atuesta, Luis Carlos Mayor-Romero, Rob P. W. Rouhl, Carla Bentes

Objective

Epileptic seizures occur frequently after stroke due to changes in brain function and structure, and up to around 10% of stroke patients experience stroke recurrence in the first year. We aimed to establish the risk of acute symptomatic seizures in patients with recurrent stroke.

Methods

Retrospective cohort study including consecutive admissions to a Stroke Unit due to acute ischemic stroke, during a 5-year period. Additional inclusion of patients admitted to two centers in different countries to corroborate findings (confirmatory cohort). We aimed to compare acute symptomatic seizure incidence in patients with and without previous stroke. Patients with history of epilepsy were excluded. Logistic regression modeling was performed to identify predictors in middle cerebral artery (MCA) stroke.

Results

We included 1473 patients (1085 with MCA stroke), of which 117 had a recurrent ischemic stroke (84 with MCA stroke). Patients with recurrent stroke had a seizure risk during hospital stay similar to that of patients with a first-ever stroke (5.1% vs. 4.5%, OR 1.15, 95% CI .48–2.71, p = .75). Risk of acute symptomatic seizures was also similar (5.0% vs. 4.1, OR 1.22, 95% CI .29–5.27, p = .78). Older age, female sex, and hemorrhagic transformation were predictors of seizures in patients with a first MCA ischemic stroke, but not in recurrent stroke patients. Electrographic characteristics were similar between the two groups in patients who had an electroencephalogram (46 with first stroke, 5 with recurrent stroke). The low rate of seizures (1.5%) in the confirmatory cohort (n = 198) precluded full comparison with the initial cohort. Nevertheless, the rate of seizures was not higher in stroke recurrence.

Significance

History of previous stroke was not associated with an increased risk of acute symptomatic seizures during hospital stay. Larger, prospective studies, with prospective electrophysiological evaluation, are needed to explore the impact of stroke recurrence on seizure risk.

目的:由于脑功能和结构的改变,中风后经常会出现癫痫发作,多达约 10%的中风患者会在第一年内中风复发。我们旨在确定复发性中风患者急性症状性癫痫发作的风险:方法:回顾性队列研究,包括 5 年内因急性缺血性中风连续入住中风病房的患者。另外还纳入了不同国家两个中心收治的患者,以证实研究结果(确证队列)。我们的目的是比较曾患中风和未患中风患者的急性症状性癫痫发作率。有癫痫病史的患者被排除在外。采用逻辑回归模型确定大脑中动脉(MCA)卒中的预测因素:我们纳入了 1473 例患者(1085 例为 MCA 中风),其中 117 例为复发性缺血性中风(84 例为 MCA 中风)。复发性中风患者在住院期间的癫痫发作风险与首次中风患者相似(5.1% vs. 4.5%,OR 1.15,95% CI .48-2.71,p = .75)。急性症状发作的风险也相似(5.0% vs. 4.1,OR 1.22,95% CI .29-5.27,p = .78)。高龄、女性和出血性转变是首次 MCA 缺血性卒中患者癫痫发作的预测因素,但不是复发性卒中患者癫痫发作的预测因素。两组患者的脑电图特征相似(46 例首次中风患者,5 例复发中风患者)。由于确诊组群(n = 198)的癫痫发作率较低(1.5%),因此无法与初始组群进行全面比较。尽管如此,中风复发患者的癫痫发作率并不高:意义:既往中风史与住院期间急性症状性癫痫发作风险增加无关。需要进行更大规模的前瞻性研究,并进行前瞻性电生理评估,以探讨中风复发对癫痫发作风险的影响。
{"title":"Acute symptomatic seizures in patients with recurrent ischemic stroke: A multicentric study","authors":"Miguel Leal Rato,&nbsp;Miguel Schön,&nbsp;Maria Paula Zafra,&nbsp;Diana Aguiar de Sousa,&nbsp;Teresa Pinho e Melo,&nbsp;Ana Catarina Franco,&nbsp;Ana Rita Peralta,&nbsp;Carolina Ferreira-Atuesta,&nbsp;Luis Carlos Mayor-Romero,&nbsp;Rob P. W. Rouhl,&nbsp;Carla Bentes","doi":"10.1002/epd2.20279","DOIUrl":"10.1002/epd2.20279","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Epileptic seizures occur frequently after stroke due to changes in brain function and structure, and up to around 10% of stroke patients experience stroke recurrence in the first year. We aimed to establish the risk of acute symptomatic seizures in patients with recurrent stroke.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Retrospective cohort study including consecutive admissions to a Stroke Unit due to acute ischemic stroke, during a 5-year period. Additional inclusion of patients admitted to two centers in different countries to corroborate findings (confirmatory cohort). We aimed to compare acute symptomatic seizure incidence in patients with and without previous stroke. Patients with history of epilepsy were excluded. Logistic regression modeling was performed to identify predictors in middle cerebral artery (MCA) stroke.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We included 1473 patients (1085 with MCA stroke), of which 117 had a recurrent ischemic stroke (84 with MCA stroke). Patients with recurrent stroke had a seizure risk during hospital stay similar to that of patients with a first-ever stroke (5.1% vs. 4.5%, OR 1.15, 95% CI .48–2.71, <i>p</i> = .75). Risk of acute symptomatic seizures was also similar (5.0% vs. 4.1, OR 1.22, 95% CI .29–5.27, <i>p</i> = .78). Older age, female sex, and hemorrhagic transformation were predictors of seizures in patients with a first MCA ischemic stroke, but not in recurrent stroke patients. Electrographic characteristics were similar between the two groups in patients who had an electroencephalogram (46 with first stroke, 5 with recurrent stroke). The low rate of seizures (1.5%) in the confirmatory cohort (<i>n</i> = 198) precluded full comparison with the initial cohort. Nevertheless, the rate of seizures was not higher in stroke recurrence.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>History of previous stroke was not associated with an increased risk of acute symptomatic seizures during hospital stay. Larger, prospective studies, with prospective electrophysiological evaluation, are needed to explore the impact of stroke recurrence on seizure risk.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"787-796"},"PeriodicalIF":1.9,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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。
{"title":"Seizure emergency code strategy: Improving treatment times and hospital outcomes for patients with urgent epileptic seizures","authors":"Camilo Espinosa-Jovel,&nbsp;Sandra Riveros,&nbsp;Natalia Valencia-Enciso,&nbsp;Alberto Velásquez,&nbsp;Juan Vergara-Palma,&nbsp;Fidel Sobrino-Mejía","doi":"10.1002/epd2.20273","DOIUrl":"10.1002/epd2.20273","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>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) (<i>p</i> = .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) (<i>p</i> = .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) (<i>p</i> &lt; .001). The seizure code significantly decreased the risk of inappropriate benzodiazepine use (<i>p</i> = .0087), in-hospital seizure recurrence (<i>p</i> &lt; .001), in-hospital mortality (<i>p</i> = .0074), and prolonged hospitalizations (more than 48 h) (<i>p</i> = .0475).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>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.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"761-770"},"PeriodicalIF":1.9,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142005772","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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
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Epileptic Disorders
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