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
SCN1A channelopathy is the most well-known cause for epileptic encephalopathies and contributes to a wide phenotypic spectrum. The variable expressivity is troublesome for the interpretation of clinical significance and prognoses. To investigate the clinical manifestations, medications and outcomes of patients with SCN1A channelopathies, we conducted this observation retrospective study in Taiwan.
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