Dravet综合征:技术专家的视角。

Patricia A Lordeon, Bilal Sitwat, Donna Brehm, Deborah Holder
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引用次数: 0

摘要

Dravet综合征(DS),也称为婴儿期严重肌阵挛性癫痫(SMEI),是一种罕见的,主要发生在婴儿期的遗传性疾病。退行性椎体滑移的特点是频繁、长时间、主要是全身性癫痫发作,最初伴有发热,最终发展为多种无热性癫痫发作类型,如肌阵挛、非典型失神和复杂的部分性癫痫发作。最初发育正常的患者,随着综合征的进展,将经历伴随的发育倒退。因为它是一种儿童疾病,所以在儿科领域之外并不为人所知。一个精明的脑电图专家应该能够识别临床和电图上的关键因素,这些因素可能会导致Dravet综合征的诊断。
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Dravet syndrome: a technologist's perspective.

Dravet Syndrome (DS), also known as Severe Myoclonic Epilepsy in Infancy (SMEI) is a rare, primarily genetic disorder which develops in infancy. The characteristics of DS are frequent, prolonged, primarily generalized seizures which occur initially with fever and eventually evolve to multiple afebrile seizure types such as myoclonic, atypical absence, and complex partial seizures. Patients, who are initially developmentally normal, will experience concomitant developmental regression as the syndrome progresses. Because it is a childhood disorder, DS is not well known outside the realm of pediatrics. An astute EEG technologist should be able to recognize key factors both clinically and electrographically which point suspicion to the diagnosis of Dravet Syndrome.

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