Zobrazeno 1 - 1
of 1
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
