与发育性癫痫脑病相关的新型单基因异常病例系列，伴有睡眠中的棘波和波激活

IF 3.2 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology Pub Date : 2024-08-12 DOI:10.1016/j.pediatrneurol.2024.08.003

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引用次数: 0

摘要

背景伴有睡眠中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性疾病，其特征是与睡眠中尖波激活相关的退行性病变。方法由于大约 10% 的患者有相关的遗传基础，我们试图描述一个学术医学中心的四名与 DEE-SWAS 相关的单基因变异患者的临床病史。结果本病例系列的发现不仅有助于对患者进行准确诊断和预后判断，还可能为未来的治疗干预提供潜在目标。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

A Case Series of Novel Monogenic Abnormalities Associated With Developmental Epileptic Encephalopathy With Spike-and-Wave Activation in Sleep

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.

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来源期刊

Pediatric neurology 医学-临床神经学

CiteScore

4.80

自引率

2.60%

发文量

176

审稿时长

78 days

期刊介绍： Pediatric Neurology publishes timely peer-reviewed clinical and research articles covering all aspects of the developing nervous system. Pediatric Neurology features up-to-the-minute publication of the latest advances in the diagnosis, management, and treatment of pediatric neurologic disorders. The journal''s editor, E. Steve Roach, in conjunction with the team of Associate Editors, heads an internationally recognized editorial board, ensuring the most authoritative and extensive coverage of the field. Among the topics covered are: epilepsy, mitochondrial diseases, congenital malformations, chromosomopathies, peripheral neuropathies, perinatal and childhood stroke, cerebral palsy, as well as other diseases affecting the developing nervous system.