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Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.
Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Labate A, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A. Mantegazza M, et al. Proc Natl Acad Sci U S A. 2005 Dec 13;102(50):18177-82. doi: 10.1073/pnas.0506818102. Epub 2005 Dec 2. Proc Natl Acad Sci U S A. 2005. PMID: 16326807 Free PMC article.
92 results