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Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.
Matricardi S, Cestèle S, Trivisano M, Kassabian B, Leroudier N, Vittorini R, Nosadini M, Cesaroni E, Siliquini S, Marinaccio C, Longaretti F, Podestà B, Operto FF, Luisi C, Sartori S, Boniver C, Specchio N, Vigevano F, Marini C, Mantegazza M. Matricardi S, et al. Among authors: mantegazza m. Epilepsia. 2023 May;64(5):1331-1347. doi: 10.1111/epi.17509. Epub 2023 Jan 26. Epilepsia. 2023. PMID: 36636894 Review.
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.
92 results