离子通道病
医学
回顾性队列研究
儿科
表型
队列
临床意义
内科学
重症监护医学
遗传学
生物
基因
作者
Yu Min Syu,Inn‐Chi Lee,Jyh‐Feng Lu,Pi‐Lien Hung,Syuan‐Yu Hong,Ming‐Tao Yang,Jao‐Shwann Liang
标识
DOI:10.1016/j.pedneo.2024.03.013
摘要
Our study revealed unfavorable outcomes for patients with SCN1A variants. Some patients with SCN1A channelopathy showed specific responsiveness to the pharmacotherapies previously either recommended or contraindicated for these patients. Our study also expands the genotype and provides valuable prognostic insights in patients with SCN1A channelopathy.
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