Epileptic Disorders最新文献

英文中文

Benign paroxysmal tonic upgaze of childhood with ataxia 伴有共济失调的儿童良性阵发性强直性上视

IF 2.3 4区医学 Q3 Medicine

Epileptic Disorders

Pub Date : 2024-03-27 DOI: 10.1684/j.1950-6945.2001.tb00396.x

Maria Luisa Lispi, Federico Vigevano

Paroxysmal tonic upgaze deviation (PTU) is a rare neuro‐ophthalmological disorder with onset in infancy or early childhood. It consists of episodes of sustained, conjugate, upward deviation of the eyes, down beating saccades in attempted downgaze, apparently preserved horizontal eye movements, frequent association with mild ataxia or clumsiness at time of illness, normal metabolic, electroencephalographic and neuroradiological findings. Symptoms are frequently relieved by sleep and can be exacerbated by fatigue or illness. Although PTU generally tends to disappear spontaneously within a few months or years, subsequent case reports have demonstrated the heterogeneous nature of the syndrome with respect to outcome. To date, the pathogenesis of the condition is still unknown. We present a new case of PTU with ataxia occurring in an otherwise healthy child, as documented by video recording of the phenomenon.

阵发性强直性上视偏离症（PTU）是一种罕见的神经眼科疾病，在婴儿期或幼儿期发病。它包括发作性的持续、共轭、眼球上偏，在试图下视时眼球向下跳动，水平眼球运动明显保留，发病时常伴有轻度共济失调或笨拙，代谢、脑电图和神经放射学检查结果正常。症状经常在睡眠时缓解，也可能在疲劳或生病时加重。虽然 PTU 通常会在数月或数年内自然消失，但随后的病例报告表明，该综合征的结果具有异质性。迄今为止，该病症的发病机制仍然不明。我们介绍了一例新的 PTU 并发共济失调病例，该病例发生在一名原本健康的儿童身上，并通过视频记录了这一现象。

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Policy for developing and publishing supplements or monographic themes 编制和出版补编或专题的政策

IF 2.3 4区医学 Q3 Medicine

Epileptic Disorders

Pub Date : 2024-03-27 DOI: 10.1684/j.1950-6945.1999.tb00312.x

Approval to publish a suppplement to Epileptic Disorders or a monograph, special issue or book under the label Epileptic Disorders series must be obtained from the Supplement and/or Book Editors. Acceptance is not guaranteed. The final decision to publish a supplement or monograph will be based on the quality of the manuscripts and the topic covered. Proceedings of meetings, workshops, or congresses may be published as supplements. Epilepsy educational material may be published as monographs, books or edited as video cassettes or CD‐ROM's labeled Epileptic Disorders series.

出版《癫痫症》增刊或《癫痫症》丛书标签下的专著、特刊或书籍，必须获得增刊和/或书籍编辑的批准。不保证一定会被接受。出版增刊或专著的最终决定将基于稿件的质量和所涉及的主题。会议、研讨会或大会的论文集可作为增刊出版。癫痫教育资料可以专著、书籍或编辑成录像带或光盘的形式出版，并标上癫痫疾病系列。

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Stimulating the cingulate to move 刺激扣带回运动

IF 2.3 4区医学 Q3 Medicine

Epileptic Disorders

Pub Date : 2024-03-27 DOI: 10.1002/epd2.20219

An Qi Xu, Nicolas Nguyen, Elie Bou Assi, Dang Khoa Nguyen

Locomotion is a goal-oriented behavior divided into three components: initiation (volitional or emotional), rhythmic limb movements, and intentional adjustment.¹ Volitional initiation involves the frontal cortex and thalamus, guided by an individual's intention to move^2-4. Emotional initiation is directed by the cingulate cortex and insula, leading to a sensation of urge to move. After initiation of the locomotion, rhythmic limb movements are coordinated by central pattern generators in the brainstem, spinal cord, and cerebellum.⁴ Our patient, a 45-year-old male who underwent an intracranial EEG study for left frontal lobe epilepsy, electrical stimulation of the anterior midcingulate cortex at 6 mA for 5 seconds repeatedly induced an “urge to move” and initiated a “getting-up” motion (Video 1), similar to the findings of Jackson et al.¹ and Caruana et al.⁵

运动是一种以目标为导向的行为，分为三个部分：启动（意志或情感）、有节奏的肢体运动和有意调整。1 意志启动涉及额叶皮层和丘脑，由个体的运动意图引导2-4。情感启动由扣带回皮层和岛叶引导，导致一种想要运动的感觉。4 我们的患者是一名 45 岁的男性，因左额叶癫痫接受了颅内脑电图研究，在 6 毫安的电流下电刺激前扣带回皮层 5 秒钟，反复诱发了 "移动冲动 "并启动了 "起身 "动作（视频 1），这与杰克逊等人1 和卡鲁阿纳等人5 的研究结果类似。

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Epilepsy surgery Lüders HO, Comair YG, Philadelphia: Lippincott Williams & Wilkins 2001, 1,060p. 癫痫手术 Lüders HO，Comair YG，费城：Lippincott Williams & Wilkins 2001，1,060 页。

IF 2.3 4区医学 Q3 Medicine

Epileptic Disorders

Pub Date : 2024-03-27 DOI: 10.1684/j.1950-6945.2002.tb00488.x

Philippe Kahane

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The role of gamma knife surgery in the treatment of severe epilepsies 伽玛刀手术在治疗严重癫痫中的作用

IF 2.3 4区医学 Q3 Medicine

Epileptic Disorders

Pub Date : 2024-03-27 DOI: 10.1684/j.1950-6945.2000.tb00365.x

Jean Régis, Fabrice Bartolomei, Motohiro Hayashi, David Roberts, Patrick Chauvel, Jean‐Claude Peragut

There is a strong rationale for investigation of the role of gamma knife radiosurgery in the treatment of medically intractable epilepsy. To explore this potential application, the current outcome and morbidity associated with established microsurgical treatment, as well as the associated advantages and disadvantages of open surgery, are reviewed. The preliminary evidence in support of radiosurgical treatment and the recent experience with gamma knife treatment for epilepsy associated with mesial temporal sclerosis, cavernous angioma, and hypothalamic hamartoma or other lesions are presented. The strengths and limitations of this application are discussed, and the challenges facing both microsurgical and radiosurgical approaches are considered. Gamma knife surgery can be a main approach among others in the armamentarium of epilepsy surgery. Although the benefits of comfort and reduced invasivity can be clearly perceived, larger series and long‐term follow up are still required in order to evaluate the future of this particular surgical approach.

研究伽玛刀放射外科手术在治疗药物难治性癫痫中的作用是有充分理由的。为了探索这一潜在的应用，我们回顾了目前与显微外科治疗相关的结果和发病率，以及与开放手术相关的优缺点。本文介绍了支持放射外科治疗的初步证据，以及伽玛刀治疗与颞中叶硬化症、海绵状血管瘤、下丘脑火腿肠瘤或其他病变相关的癫痫的最新经验。讨论了这种应用的优势和局限性，并考虑了显微外科和放射外科方法所面临的挑战。伽玛刀手术是癫痫外科手术中的一种主要方法。虽然伽马刀手术在舒适性和减少侵入性方面的优势显而易见，但仍需要进行更大规模的系列手术和长期随访，以评估这种特殊手术方法的前景。

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Hypothalamic hamartoma, precocious puberty and gelastic seizures: A special model of “epileptic” developmental disorder 下丘脑火腿肠瘤、性早熟和凝胶痉挛：癫痫 "发育障碍的特殊模型

IF 2.3 4区医学 Q3 Medicine

Epileptic Disorders

Pub Date : 2024-03-27 DOI: 10.1684/j.1950-6945.2000.tb00347.x

Thierry Deonna, Anne‐Lise Ziegler

Based on a review of the litterature and a detailed longitudinal single case study of a child with early onset gelastic seizures and hypothalamic hamartoma, the authors review the arguments suggesting that the acquired cognitive and behavioral symptoms seen in the majority of cases of this special epileptic syndrome result from a direct effect of the seizures. The early neurobehavioral profile of the case presented in this paper and that of a previous study is particular and combines features of a pervasive developmental and an attention deficit disorder which are probably closely related to the particular location of the epilepsy and its spread from the hypothalamus.

根据对文献的综述以及对一名患有早发胶样癫痫发作和下丘脑火腿肠瘤的儿童进行的详细纵向单个病例研究，作者回顾了一些论点，这些论点表明，在这种特殊癫痫综合征的大多数病例中出现的后天认知和行为症状是由癫痫发作的直接影响造成的。本文介绍的病例和之前的一项研究显示，该病例的早期神经行为特征很特别，结合了广泛性发育障碍和注意力缺陷障碍的特征，这可能与癫痫的特殊位置及其从下丘脑扩散密切相关。

引用次数: 0

Reply to Dr Vercueil 答复 Vercueil 博士

IF 2.3 4区医学 Q3 Medicine

Epileptic Disorders

Pub Date : 2024-03-27 DOI: 10.1684/j.1950-6945.2000.tb00357.x

Cesare T. Lombroso

引用次数: 0

Atypical evolution of Panayiotopoulos syndrome: A case report 帕纳约托普洛斯综合征的非典型演变：病例报告

IF 2.3 4区医学 Q3 Medicine

Epileptic Disorders

Pub Date : 2024-03-27 DOI: 10.1684/j.1950-6945.2002.tb00434.x

Colin D. Ferrie, Michael Koutroumanidis, Shaun Rowlinson, Sue Sanders, C.P. Panayiotopoulos

Panayiotopoulos syndrome is a relatively common condition with susceptibility to early onset benign childhood seizures, which manifests primarily with autonomic and mainly emetic symptoms. It predominantly affects children of 3‐6 years of age (13% of those with one or more non‐febrile seizures). EEG shows great variability, with occipital, extra‐occipital spikes or brief generalised discharges alone or in combination; it may also be consistently normal. Occipital spikes do not occur in one third of children. Despite the high prevalence of autonomic status epilepticus, the prognosis of Panayiotopoulos syndrome is usually excellent. Remission usually occurs within 1‐2 years from onset, one third have a single seizure but 5‐10% may have more than 10 seizures or a more prolonged course. Atypical evolutions with absences, atonic seizures and intellectual deterioration are exceptional; only two cases have been previously reported. We present a girl who initially had a prolonged autonomic status epilepticus typical of Panayiotopoulos syndrome, followed by seizures, with concurrent symptoms of Rolandic epilepsy. She then had an atypical evolution with atypical absences, absence status epilepticus, atonic seizures and mild impairment of scholastic performance. The case emphasises the close links between Panayiotopoulos syndrome and Rolandic epilepsy, both of which probably represent different clinical phenotypes of a maturational‐related benign childhood seizure susceptibility syndrome [published with videosequences].

帕纳约托普洛斯综合征是一种相对常见的疾病，易引起早发性良性儿童癫痫发作，主要表现为自主神经症状，以呕吐症状为主。它主要影响 3-6 岁的儿童（13% 的患者有一次或多次非发热性癫痫发作）。脑电图变化很大，可单独或同时出现枕部、枕外棘波或短暂的全身放电；也可能持续正常。三分之一的患儿不会出现枕骨棘波。尽管自主神经状态性癫痫的发病率很高，但帕纳约托普洛斯综合征的预后通常很好。通常会在发病后 1-2 年内缓解，三分之一的患儿只有一次癫痫发作，但 5-10% 的患儿可能会有 10 次以上的癫痫发作或病程更长。伴有失神、失张力发作和智力衰退的非典型演变非常罕见，此前仅有两例报道。我们为大家介绍的是一名女孩，她最初出现了典型的帕纳约托普洛斯综合征的长时间自主神经状态性癫痫，随后癫痫发作，同时伴有罗兰尼克癫痫的症状。随后，她的病情发生了非典型演变，出现了非典型缺席、失神状态性癫痫、失张力发作和轻度学习成绩受损。该病例强调了帕纳约托普洛斯综合征和罗兰尼克癫痫之间的密切联系，两者可能代表了一种与成熟相关的良性儿童癫痫易发综合征的不同临床表型[发表时附有视频资料]。

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Electroclinical features of myoclonic-tonic and spasm-tonic seizures in childhood 儿童肌阵挛-强直和痉挛-强直性癫痫发作的电临床特征。

IF 2.3 4区医学 Q3 Medicine

Epileptic Disorders

Pub Date : 2024-03-27 DOI: 10.1002/epd2.20213

Mohamed Taha, Douglas R. Nordli III, Shawn Kacker, Audrey Oetomo, Chalongchai Phitsanuwong, Douglas R. Nordli Jr

Myoclonic-tonic (MT) and spasm-tonic (ST) seizures represent distinctive features in late infantile epileptic encephalopathy (LIEE). This commentary aims to delineate the electroclinical characteristics of MT and ST seizures, setting them apart from other seizure types. Our analysis encompasses 211 ST and MT seizures observed in 31 patients diagnosed with LIEE, providing a comprehensive overview of video-EEG features and polygraphic signatures. In MT seizures, EEG findings reveal a high-voltage diffuse spike/polyspike and wave discharge, often succeeded by diffuse electrodecrements. The amplitude-integrated EEG (aEEG) signature is described as a “reversed checkmark.” Conversely, ST seizures exhibit EEG findings such as a vertex positive deflection after a slow-wave and relative electrodecrement, with intermixed epileptiform discharges. In comparison to MT seizures, polygraphic characteristics in ST seizures appear more distinct, featuring a brief rhomboid shape corresponding to the spasm, followed by a lengthier rectangular shape indicative of the tonic phase of the ST seizure. While the pathophysiology of ST and MT seizures remains inadequately understood, their concurrent occurrence and association with other seizure types (tonic, epileptic spasm, myoclonic) within the temporal context of LIEE and other epileptic encephalopathies prompt us to anticipate advancements in our understanding through future research. We hope that this study serves as a foundation for unraveling these complexities in the times to come.

肌阵挛-强直（MT）和痉挛-强直（ST）发作是晚期婴儿癫痫性脑病（LIEE）的显著特征。本评论旨在描述 MT 和 ST 癫痫发作的电临床特征，将它们与其他发作类型区分开来。我们的分析涵盖了在 31 名确诊为 LIEE 的患者中观察到的 211 次 ST 和 MT 癫痫发作，提供了视频脑电图特征和多图形特征的全面概述。在 MT 癫痫发作中，脑电图结果显示出高压弥漫性棘波/多棘波和波放电，随后往往出现弥漫性电休克。振幅积分脑电图（aEEG）特征被描述为 "反向核对标记"。相反，ST 型癫痫发作的脑电图表现为慢波和相对电减弱后的顶点正偏转，并夹杂癫痫样放电。与 MT 癫痫发作相比，ST 癫痫发作的多形性特征更为明显，其特点是在痉挛期出现短暂的斜方形，随后出现较长的矩形，表明 ST 癫痫发作的强直期。虽然人们对 ST 和 MT 癫痫发作的病理生理学仍不甚了解，但在 LIEE 和其他癫痫性脑病的时间背景下，它们的同时出现以及与其他发作类型（强直性、癫痫痉挛、肌阵挛）的关联促使我们期待通过未来的研究加深对它们的理解。我们希望这项研究能为今后揭示这些复杂性奠定基础。

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IF 2.3 4区医学 Q3 Medicine

Epileptic Disorders

Pub Date : 2024-03-27 DOI: 10.1684/j.1950-6945.2001.tb00478.x

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