Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures
鉴定出与家族性单纯性热性惊厥相关的 Nav1.1 钠通道 (SCN1A) 功能丧失突变
期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:9.1
doi:10.1073/pnas.0506818102
Mantegazza, Massimo; Gambardella, Antonio; Rusconi, Raffaella; Schiavon, Emanuele; Annesi, Ferdinanda; Cassulini, Rita Restano; Labate, Angelo; Carrideo, Sara; Chifari, Rosanna; Canevini, Maria Paola; Canger, Raffaele; Franceschetti, Silvana; Annesi, Grazia; Wanke, Enzo; Quattrone, Aldo