McWilliam Matthew, Asuncion Ria Monica D., Al Khalili Yasir
University of Santo Tomas, Medicine and Surgery
Virginia Commonwealth University
The definition of a seizure is an abnormal, hypersynchronous discharge of cortical neurons causing transient signs and symptoms. Epilepsy is brain disorder "characterized by an enduring predisposition to generate epileptic seizures and by the neurobiologic, cognitive, psychological, and social consequences of this condition. The definition of epilepsy requires the occurrence of at least one epileptic seizure." A diagnosis of epilepsy is considered in the following circumstances: Two unprovoked seizures more than 24 hours apart. One unprovoked seizure but with a high recurrence risk (such as abnormal baseline EEG). A diagnosis of an epilepsy syndrome. The terminology and classification of epilepsy have undergone significant change in recent years with the revised International League Against Epilepsy (ILAE) classification of epilepsies in 2017, replacing the 1989 classification. This update encompasses scientific advancement and establishes a viable clinical tool for the practicing clinician while remaining applicable for research and development of anti-epileptic therapies. have origins “within networks limited to one hemisphere. They may be discretely localized or more widely distributed. Focal seizures may originate in subcortical structures.” Focal seizures can be further subclassified according to the following: 1. Motor onset or non-motor onset: Motor:(with subgroups of automatism, atonic, clonic, myoclonic, epileptic spasms, hyperkinetic, tonic) : automatism: coordinated, purposeful, repetitive motor activity, such as lip-smacking or swallowing ; atonic: focal loss of tone; clonic: focal rhythmic jerking; myoclonic: irregular, brief focal jerking; epileptic spasms: focal flexion or extension of arms with flexion of the trunk ; hyperkinetic: activities such as pedaling or thrashing; tonic: sustained focal stiffening. Non-motor (with subgroups autonomic, behavior arrest, cognitive, emotional, sensory): autonomic: a sense of heat or cold, flushing, gastrointestinal sensations, a sense of heat or cold, piloerection (goosebumps), palpitations, sexual arousal, respiratory changes, or other autonomic effects ; behavior arrest: behavioral arrest as the predominant aspect of the seizure; cognitive: deficits in language, thinking, or associated higher cortical functions, including feelings of déjà vu or jamais vu, hallucinations, or illusions. emotional: emotional changes, such as fear, anxiety, agitation, anger, paranoia, pleasure, joy, laughing (gelastic seizure), or crying (dacrystic seizure). These are often subjective. sensory: somatosensory sensations, such as olfactory, visual, auditory, hot or cold feeling, taste, or vestibular sensations. 2. Intact or non-intact awareness (a surrogate marker for consciousness). Awareness means consciousness during the seizure, not being aware that a seizure has occurred. Impairment of awareness at any point constitutes non-intact awareness. Responsiveness is not a classification criterion by ILAE as focal impaired consciousness seizures can be associated with alertness and responsiveness to basic commands. 3. Focal to bilateral tonic-clonic. This replaces the term "secondarily generalized tonic-clonic." "Bilateral" describes how the seizure propagates as opposed to "generalized" which describes generalized onset of the seizure location. have origins “originating at some point within, and rapidly engaging, bilaterally distributed networks." Most generalized seizures are associated with impaired consciousness, so this is not a descriptive criterion. They are classified as motor or non-motor. As many seizures evolve into tonic-clonic, it is important to characterize the beginning of a seizure in detail. If a certain type of seizure only occurs when generalized (such as absence seizures), the "generalized" may be omitted. 1. Motor (tonic-clonic, clonic, tonic, myoclonic, myoclonic-tonic-clonic, myoclonic-atonic, atonic, epileptic spasms). See above for a description of terms, and the following are identifying characteristics of specific types of generalized onset motor seizures: Tonic-clonic seizure replaces the previous term "grand mal seizure" and is the most recognizable type. If initiated by myoclonic activity, it is classified as myotonic-tonic-clonic. The clonic phase usually decreases over the seizure course. They may be preceded by an "aura" or feeling of impending doom or other autonomic activity, but this does not contribute to focality of the seizure. Generalized clonic seizures begin and end with sustained jerking of the head, neck, face, and trunk. This type is most commonly seen in infants. Tonic seizures involve sustained extension, less commonly flexion, of a muscle group. It should be distinguished from dystonia and athetoid movement caused by antipsychotic medications. Atonic seizures often cause a patient to fall forward or onto the buttocks. In contrast, generalized tonic-clonic seizures generally cause a patient to fall backward. . Epileptic spasms cause flexion or extension of proximal muscles and the trunk. They occur most often in clusters and in infants, where they are called "infantile spasms.". 2. Non-motor or absence (typical, atypical, myoclonic, eyelid myoclonia). The ILAE classification systems retain the distinction between typical and atypical generalized seizures because of different EEG patterns, therapy, and prognosis. Typical generalized seizures with non-motor manifestations are commonly referred to as absence seizures. They present with sudden onset of cessation of activity, blank stare, and unresponsiveness. They usually last several seconds and are usually less than 10 seconds long. If performed during the event, EEG would show generalized epileptiform discharges. Clinically, absence seizures have some similarities to focal onset seizures with impaired consciousness (previously called complex partial seizures). Both present with staring, but they differ clinically as focal onset seizures with impaired consciousness are significantly longer lasting 30 seconds to 2 minutes; in addition to staring other associated signs are as repeated words, screaming, crying, or hallucinations. Absence seizures last only a few seconds and usually are characterized only by momentary inattention. Atypical absence seizures are associated with increased muscle tonic behavior and less abrupt beginning and ending of the event. EEG during the event would show slow, irregular spike-and-wave activity at a rate of <3 per second. Myoclonic seizures are characterized by 3-per-second myoclonic jerks ratcheting the arm upwards and correspond to 3-per-second generalized spike-and-wave readings on EEG. Eyelid myoclonia are eyelid myoclonic jerks accompanied by upward eye deviation. If accompanied by EEG abnormalities with eye closure and photosensitivity, this triad is called Jeavons syndrome. . If seizures are unwitnessed or unable to be accurately described, they are given this designation. They can be motor, non-motor, or unclassified. Unclassified refers to seizures without enough descriptive information to classify or those that do not fit into other categories. Often, this includes tonic-clonic seizures for which the start is unwitnessed. There can be significant overlap between the different classifications and differing bystander opinions about the clinical presentations; therefore, the above classifications are only a framework to define seizure origin and type. The recommended classification system first classifies seizures by location (local, generalized, or unknown); then by type of epilepsy disease (focal, generalized, combined, or unknown); and finally, if the seizure and epilepsy type are part of an overall epilepsy syndrome (eg, JME, CAE, JAE). The 2017 ILAE terminology introduces new terminology, such as developmental and epileptic encephalopathy. Furthermore, the 2017 Classification also includes the following changes: 1. "Partial" becomes "focal.". 2. Awareness is used as a classifier of focal seizures. 3. The terms dyscognitive, simple partial, complex partial, psychic, and secondarily generalized are eliminated. 4. New focal seizure types include automatisms, behavior arrest, hyperkinetic, autonomic, cognitive, and emotional. 5. Atonic, clonic, epileptic spasms, myoclonic, and tonic seizures can be of either focal or generalized onset. . 6. Focal to bilateral tonic-clonic seizure replaces secondarily generalized seizure. 7. New generalized seizure types are absence with eyelid myoclonia, myoclonic absence, myoclonic-atonic, myoclonic-tonic-clonic. 8. Seizures of unknown onset may have features that can still be classified. 9. Benign is replaced by the terms self-limited or pharmacoresponsive. This activity will focus on idiopathic (genetic) generalized epilepsy (IGE), one of the most well-recognized subgroups of generalized epilepsies. Idiopathic generalized epilepsy specifically refers to epilepsy syndromes such as juvenile myoclonic epilepsy (JME), juvenile absence epilepsy (JAE), childhood absence epilepsy (CAE), and generalized tonic-clonic seizures alone.
癫痫发作的定义是皮质神经元异常、超同步放电,导致短暂的体征和症状。癫痫是一种脑部疾病,“其特征是具有产生癫痫发作的持久倾向,以及这种状况所导致的神经生物学、认知、心理和社会后果。癫痫的定义要求至少发生一次癫痫发作。” 在以下情况下考虑癫痫诊断:两次无诱因发作,间隔超过24小时。一次无诱因发作,但复发风险高(如基线脑电图异常)。癫痫综合征的诊断。近年来,随着2017年国际抗癫痫联盟(ILAE)对癫痫分类的修订,癫痫的术语和分类发生了重大变化,取代了1989年的分类。这一更新涵盖了科学进展,为临床医生建立了一个可行的临床工具,同时仍适用于抗癫痫治疗的研究和开发。 起源于 “局限于一个半球的网络内。它们可能是离散定位的,也可能分布更广泛。局灶性发作可能起源于皮质下结构。” 局灶性发作可根据以下情况进一步细分:1. 运动性发作或非运动性发作:运动性:(自动症、失张力、阵挛性、肌阵挛性、癫痫性痉挛、运动过多性、强直性等亚组):自动症:协调、有目的、重复性的运动活动,如咂嘴或吞咽;失张力:局部肌张力丧失;阵挛性:局部节律性抽搐;肌阵挛性:不规则、短暂的局部抽搐;癫痫性痉挛:手臂屈曲伴躯干屈曲;运动过多性:如蹬踏或挣扎等活动;强直性:持续的局部僵硬。非运动性:(自主神经、行为停止、认知、情感、感觉等亚组):自主神经:热或冷的感觉、脸红、胃肠道感觉、热或冷的感觉、竖毛(鸡皮疙瘩)、心悸、性兴奋、呼吸变化或其他自主神经效应;行为停止:以行为停止为发作的主要方面;认知:语言、思维或相关高级皮质功能的缺陷,包括似曾相识或未曾相识的感觉、幻觉或错觉。情感:情绪变化,如恐惧、焦虑、激动、愤怒、偏执、愉悦、喜悦、大笑(痴笑性发作)或哭泣(哭泣性发作)。这些通常是主观的。感觉:躯体感觉,如嗅觉、视觉、听觉、热或冷的感觉、味觉或前庭感觉。2. 意识完整或不完整(意识的替代指标)。意识是指发作期间的意识,而不是意识到发作已经发生。在任何时候意识受损都构成意识不完整。反应性不是ILAE的分类标准,因为局灶性意识受损发作可能与警觉性和对基本指令的反应性有关。3. 局灶性至双侧强直阵挛性发作。这取代了 “继发性全身性强直阵挛性发作” 这一术语。“双侧性” 描述了发作的传播方式,而 “全身性” 描述了发作部位的全身性起始。 起源于 “在双侧分布的网络内的某个点开始,并迅速涉及该网络。” 大多数全身性发作与意识受损有关,因此这不是一个描述性标准。它们被分类为运动性或非运动性。由于许多发作会演变为强直阵挛性发作,详细描述发作的开始情况很重要。如果某种类型的发作仅在全身性发作时出现(如失神发作),则 “全身性” 可省略。1. 运动性(强直阵挛性、阵挛性、强直性、肌阵挛性、肌阵挛性强直阵挛性、肌阵挛性失张力性、失张力性、癫痫性痉挛)。术语描述见上文,以下是全身性起始运动性发作特定类型的识别特征:强直阵挛性发作取代了之前的 “大发作” 术语,是最容易识别的类型。如果由肌阵挛活动引发,则分类为肌阵挛性强直阵挛性发作。阵挛期通常在发作过程中减弱。它们可能 preceded by an “aura” 或厄运将至的感觉或其他自主神经活动,但这并不导致发作的局灶性。全身性阵挛性发作以头部、颈部、面部和躯干的持续抽搐开始和结束。这种类型最常见于婴儿。强直性发作涉及肌肉群的持续伸展,较少见屈曲。应将其与抗精神病药物引起的肌张力障碍和手足徐动症相区分。失张力性发作常导致患者向前跌倒或跌坐在臀部。相比之下,全身性强直阵挛性发作通常导致患者向后跌倒。癫痫性痉挛导致近端肌肉和躯干的屈曲或伸展。它们最常成簇出现,在婴儿中称为 “婴儿痉挛症”。2. 非运动性或失神发作(典型、非典型、肌阵挛性、眼睑肌阵挛性)。由于脑电图模式、治疗方法和预后不同(ILAE分类系统保留了典型和非典型全身性发作之间的区别)。具有非运动性表现的典型全身性发作通常称为失神发作。它们表现为活动突然停止、凝视和无反应。通常持续数秒,通常不超过10秒。如果在发作期间进行脑电图检查,会显示全身性癫痫样放电。临床上,失神发作与意识受损的局灶性发作(以前称为复杂部分性发作)有一些相似之处。两者都表现为凝视,但它们在临床上的区别在于意识受损的局灶性发作持续时间明显更长,为30秒至2分钟;除了凝视外,其他相关体征如重复言语、尖叫、哭泣或幻觉。失神发作仅持续几秒钟,通常仅表现为瞬间注意力不集中。非典型失神发作与肌肉强直性活动增加以及发作开始和结束不那么突然有关。发作期间的脑电图会显示每秒<3次的缓慢、不规则棘慢波活动。肌阵挛性发作的特征是每秒3次的肌阵挛性抽搐将手臂向上拉动,对应于脑电图上每秒3次的全身性棘慢波读数。眼睑肌阵挛是伴有向上眼球偏斜的眼睑肌阵挛性抽搐。如果伴有闭眼和光敏性脑电图异常,这个三联征称为Jeavons综合征。 如果发作未被目睹或无法准确描述,则给予此指定。它们可以是运动性、非运动性或未分类的。未分类是指没有足够的描述信息进行分类或不符合其他类别的发作。通常,这包括起始未被目睹的强直阵挛性发作。不同分类之间可能存在显著重叠,旁观者对临床表现的看法也可能不同;因此,上述分类只是定义发作起源和类型的一个框架。推荐的分类系统首先按位置(局部、全身性或未知)对发作进行分类;然后按癫痫疾病类型(局灶性、全身性、混合型或未知)分类;最后,如果发作和癫痫类型是整体癫痫综合征的一部分(如青少年肌阵挛性癫痫、儿童失神癫痫、青少年失神癫痫)。2017年ILAE术语引入了新术语,如发育性和癫痫性脑病。此外,2017年分类还包括以下变化:1. “部分性” 变为 “局灶性”。2. 意识用作局灶性发作的分类器。3. 消除了认知障碍性、简单部分性、复杂部分性、精神性和继发性全身性等术语。4. 新的局灶性发作类型包括自动症、行为停止、运动过多性、自主神经、认知和情感。5. 失张力性、阵挛性、癫痫性痉挛、肌阵挛性和强直性发作可以是局灶性或全身性起始。6. 局灶性至双侧强直阵挛性发作取代继发性全身性发作。7. 新的全身性发作类型是伴有眼睑肌阵挛的失神发作、肌阵挛性失神发作、肌阵挛性失张力性发作、肌阵挛性强直阵挛性发作。8. 发作起始不明的发作可能仍具有可分类的特征。9. “良性” 被 “自限性” 或 “药物反应性” 术语取代。本活动将重点关注特发性(遗传性)全身性癫痫(IGE),这是全身性癫痫中最广为人知的亚组之一。特发性全身性癫痫具体指青少年肌阵挛性癫痫(JME)、青少年失神癫痫(JAE)、儿童失神癫痫(CAE)和单独的全身性强直阵挛性发作等癫痫综合征。
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