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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.
Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation.
Colosimo E, Gambardella A, Mantegazza M, Labate A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A. Colosimo E, et al. Among authors: mantegazza m. Epilepsia. 2007 Sep;48(9):1691-1696. doi: 10.1111/j.1528-1167.2007.01153.x. Epub 2007 Jun 12. Epilepsia. 2007. PMID: 17565594 Free article.
93 results