三例KCNT1突变：婴儿期恶性游走性部分性癫痫伴大量体循环至肺循环侧支动脉
Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries.
作者信息
Kawasaki Yuki, Kuki Ichiro, Ehara Eiji, Murakami Yosuke, Okazaki Shin, Kawawaki Hisashi, Hara Munetsugu, Watanabe Yoriko, Kishimoto Shintaro, Suda Kenji, Saitsu Hirotomo, Matsumoto Naomichi
机构信息
Department of Pediatric Cardiology, Osaka City General Hospital, Osaka, Japan.
Department of Pediatric Neurology, Osaka City General Hospital, Osaka, Japan.
出版信息
J Pediatr. 2017 Dec;191:270-274. doi: 10.1016/j.jpeds.2017.08.057. Epub 2017 Oct 5.
KCNT1 mutations are gain-of-function mutations in potassium channels resulting in severe infantile epilepsy. Herein we describe 3 infants with malignant migrating partial seizures with KCNT1 mutations accompanied by massive systemic to pulmonary collateral arteries with life-threatening hemoptysis and heart failure.
KCNT1突变是钾通道中的功能获得性突变，可导致严重的婴儿癫痫。在此，我们描述了3例患有伴有KCNT1突变的恶性游走性部分性癫痫发作的婴儿，他们伴有大量体循环至肺的侧支动脉，出现危及生命的咯血和心力衰竭。
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