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SCN1A Intronic Variants Impact on Nav1.1 Protein Expression and Sodium Channel Function, and Associated with Epilepsy Phenotypic Severity

Jingjing Ji, Xijing Zhou,Yanting Lu, Lang Shen, Lixia Li,Zirong Chen,Yiwu Shi,Weiping Liao,Lu Yu

Gene(2024)

引用 0|浏览9
关键词
Epilepsy,SCN1A,Intronic variant,Sodium channel,Protein expression,Subcellular localization
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