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在DEPDC5中与相关的直肠和直肠中央呼吸暂停

Stefano Meletti¹, Gian Marco Duma¹, Margherita Burani¹

¹From the Department of Biomedical Metabolic Sciences and Neurosciences (S.M., M.B., E.M., A.E.V.), University of Modena and Reggio Emilia; Neurophysiology Unit and Epilepsy Centre (S.M., M.B., G.G., M.P., A.E.V.), Neuroscience Department, Modena AOU; Epilepsy Unit (G.M.D., A.D., E.O., P.B.), IRCCS E. Medea Scientific Institute, Conegliano; Neurophysiology Unit and Epilepsy Centre (E.M.), IRCCS Ospedale Policlinico San Martino, Genoa; and Laboratory of Molecular Genetics (F.M.), IRCCS E. Medea Scientific Institute, Bosisio Parini, Lecco, Italy.

Neurology. Genetics

|October 8, 2024

概括

在DEPDC5相关的中常见的是一种与突然意外死亡相关的疾病. 对于焦点和不明原因发作的患者,建议对呼吸系统进行监测和基因检测.

科学领域:

神经学神经学
遗传学遗传学是一个
发病学 (Epileptology) 是一个专业的学科.

背景情况:

与DEPDC5相关的与突然意外死亡 (SUDEP) 的风险增加有关.
阴道中央呼吸暂停 (ICA) 是SUDEP的潜在危险因素.

研究的目的:

评估在DEPDC5.5中具有病原性序列变异的患者中ICA的发生和特征.
为了确定患有ICA的患者中DEPDC5突变的流行率.

主要方法:

从两个独立的队列中对108名焦点患者进行了回顾性审查.
长期视频EEG监测 (LTVM) 使用心肺呼吸学多图.
对DEPDC5致病变体进行遗传测试 (下一代测序).

主要成果:

在接受基因检测的29名患者中,在5名患者中发现了致病性DEPDC5变异.
在14名ICA患者中,ICA在5名患者中存在 (35%),所有患者都有DEPDC5致病变体.
在所有记录的发作期间,DEPDC5患者患有ICA经历了呼吸暂停,在某些情况下持续时间超过一分钟. 发作的特征是运动停止和叶EEG参与.

结论:

阴道中央呼吸暂停是DEPDC5相关的常见发现.
在LTVM期间的呼吸道测谎仪对于管理DEPDC5相关至关重要.
应考虑在患有未知病因的焦点和眼膜呼吸暂停的患者中对DEPDC5变异进行基因检测.

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