Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Marissa R Maniaci"'
Autor:
Miriam H. Meisler, Manoj K. Patel, Eric R. Wengert, Pravin K Wagley, Julie M. Jones, Bryan S. Barker, Kritika Bhatia, Marissa R Maniaci, Howard P. Goodkin, Jack M. Parent, Jacy L. Wagnon, Alexa Faulkner, Rosie K. A. Bunton-Stasyshyn
Publikováno v:
Brain. 142:362-375
De novo mutations of the sodium channel gene SCN8A result in an epileptic encephalopathy with refractory seizures, developmental delay, and elevated risk of sudden death. p.Arg1872Trp is a recurrent de novo SCN8A mutation reported in 14 unrelated ind
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a022cb41d121528c1528897c90cd55a
https://doi.org/10.1093/brain/awy324
https://doi.org/10.1093/brain/awy324
Autor:
Bunton-Stasyshyn, Rosie K A, Wagnon, Jacy L, Wengert, Eric R, Barker, Bryan S, Faulkner, Alexa, Wagley, Pravin K, Bhatia, Kritika, Jones, Julie M, Maniaci, Marissa R, Parent, Jack M, Goodkin, Howard P, Patel, Manoj K, Meisler, Miriam H
Publikováno v:
Brain: A Journal of Neurology; Feb2019, Vol. 142 Issue 2, p362-375, 14p