Sleep related hypermotor epilepsy

  • 文章类型: Journal Article
    我们认为觉醒和睡眠相关的运动过度癫痫是遗传性双胞胎疾病,一个没有,一个癫痫。他们在NREM睡眠期间共享增强的唤醒活动,睡眠-觉醒分离,最终导致类似症状的睡眠恐怖和与睡眠相关的运动过度发作。两个光谱背后的已知突变是不同的,但是有多重种群遗传-,家庭-甚至个人(两个条件发生在同一个人)重叠支持共同的遗传根源。在觉醒障碍的发作中,前扣带,前岛叶和前额叶皮层(显示参与恐惧和情绪处理)在睡眠的大脑中被激活。这些区域与成功手术的睡眠相关运动过度发作的癫痫发作区重叠,尤其是,属于与其中心一致的显著性网络。在睡眠恐怖和运动过度发作中发生的觉醒相关和类似的恐惧混乱,使它们类似于睡眠中出现的急性应激反应;由假警报触发。前扣带的激活,在这两种情况下的前额叶和岛屿区域,可以轻松动员下丘脑-垂体-肾上腺轴(在清醒状态下准备战斗-飞行反应);通过其往返于显着性网络的直接途径。这一假设从未被研究过。
    We consider the disorders of arousal and sleep-related hypermotor epilepsy as genetic twin-conditions, one without, one with epilepsy. They share an augmented arousal-activity during NREM sleep with sleep-wake dissociations, culminating in sleep terrors and sleep-related hypermotor seizures with similar symptoms. The known mutations underlying the two spectra are different, but there are multifold population-genetic-, family- and even individual (the two conditions occurring in the same person) overlaps supporting common genetic roots. In the episodes of disorders of arousal, the anterior cingulate, anterior insular and pre-frontal cortices (shown to be involved in fear- and emotion processing) are activated within a sleeping brain. These regions overlap with the seizure-onset zones of successfully operated sleep-related hypermotor seizures, and notably, belong to the salience network being consistent with its hubs. The arousal-relatedness and the similar fearful confusion occurring in sleep terrors and hypermotor seizures, make them alike acute stress-responses emerging from sleep; triggered by false alarms. The activation of the anterior cingulate, prefrontal and insular regions in the episodes of both conditions, can easily mobilize the hypothalamo-pituitary-adrenal axis (preparing fight-flight responses in wakefulness); through its direct pathways to and from the salience network. This hypothesis has never been studied.
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  • 文章类型: Journal Article
    Objective: Sleep-related hypermotor epilepsy (SHE) is a sleep-related focal epilepsy which is often misdiagnosed. Despite active pharmacological therapy in the management of this disorder, satisfactory seizure control still cannot be achieved. Therefore, the aim of the present study was to identify this disorder among people who were seeking medical advice at Cairo University Epilepsy Unit (CUEU), characterizing its clinical, electroencephalographic and imaging features besides identifying possible indicators of inadequate seizure control on drug-therapy. Patients and methods: This study was carried out on 26 patients with SHE who were subjected to detailed history taking and examination in addition to home video recording, video electroencephalographic (EEG) monitoring and brain imaging. Ictal semiology and EEGs were reviewed and analyzed by experienced neurologists. Results: SHE is an uncommon sleep-related focal epilepsy. In our series, median age of the patients was 18.5 years. It is characterized by being sporadic, with often frontal lobe seizure onset (14/26, 53.8%) and with occasional occurrence in wakefulness. Adolescence age at disease onset (11 years, 6-15), duration less than 1 min, clustering, lack of auras and often uninformative brain imaging (22/25, 88%) are all documented features. Moreover, it has a relatively poor outcome on pharmacological therapy (16/26, 61.5%). Longer disease duration (>4.5 years) was a significant feature of the patients exhibiting inadequate seizure control. Conclusions: Our data show relatively poor prognosis of SHE on medical therapy. Its outcome is significantly related to disease duration at the time of diagnosis. Abbreviation: SHE = Sleep related hypermotor epilepsy.
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  • 文章类型: Case Reports
    Obstructive sleep apnea (OSA), an increasingly prevalent sleep disorder, has been extensively studied in both clinical and scientific settings. In most cases, the diagnosis of sleep apnea is straightforward with patients having symptoms of snoring, choking or gasping for air while asleep and witnessed apneas. However, sleep apnea is known to present in some unusual ways. We present a case of a 61-year-old male, with recently diagnosed obstructive sleep apnea (currently not on continuous positive airway pressure (CPAP)) and a history of seizure-like events since the age of 18 years, who came to the epilepsy monitoring unit (EMU) for spell characterization of his frequent seizure-like episodes. A continuous video electroencephalogram (vEEG) performed in order to determine the semiology of these spells showed that all the spells were triggered by an arousal from sleep with an associated apneic event. He was started on positive airway pressure (PAP) therapy, which resulted in the gradual decline in the number as well as the severity of his seizure-like spells. Based on the observations from vEEG monitoring and the patient\'s response, we concluded these seizure-like events as non-epileptic spells, triggered by apnea-related arousals in the context of OSA.
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