与睡眠中棘波和尖波型发育性癫痫性脑病相关的新型单基因异常病例系列
A Case Series of Novel Monogenic Abnormalities Associated With Developmental Epileptic Encephalopathy With Spike-and-Wave Activation in Sleep.
机构信息
Division of Child Neurology, Stanford School of Medicine, Palo Alto, California.
Division of Child Neurology, Stanford School of Medicine, Palo Alto, California; Pediatric Epilepsy Center, Stanford School of Medicine, Palo Alto, California.
出版信息
Pediatr Neurol. 2024 Dec;161:18-23. doi: 10.1016/j.pediatrneurol.2024.08.003. Epub 2024 Aug 12.
BACKGROUND
Developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) is a rare neurodevelopmental spectrum of disorders marked by regression associated with spike-and-wave activation in sleep.
METHODS
As roughly 10% have a related genetic underpinning, we sought to describe narrative clinical histories of four patients at a single academic medical center with monogenic variants associated with DEE-SWAS. In sharing this case series, we aim to build on recent work investigating genetic DEE-SWAS.
RESULTS
Findings from this case series not only aid in accurate diagnosis and prognosis for our patients but also may provide potential targets for future therapeutic interventions.
CONCLUSIONS
This natural history case series also highlights the difficulty in differentiating genetic phenotype from the effects of DEE-SWAS.
背景
伴有睡眠中棘波和尖波激活的发育性和癫痫性脑病（DEE-SWAS）是一种罕见的神经发育障碍谱，其特征是与睡眠中棘波和尖波激活相关的退行性变。
方法
由于约 10%的患者存在相关的遗传基础，我们试图描述在单一学术医疗中心的四名患者的叙述性临床病史，这些患者存在与 DEE-SWAS 相关的单基因变异。通过分享这个病例系列，我们旨在建立在最近研究遗传 DEE-SWAS 的工作基础上。
结果
该病例系列的研究结果不仅有助于我们患者的准确诊断和预后，而且还可能为未来的治疗干预提供潜在的靶点。
结论
这个自然病史病例系列还强调了从 DEE-SWAS 的影响中区分遗传表型的困难。
Zotero 插件