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Cellular and behavioral effects of altered Na(V)1.2 sodium channel ion permeability in Scn2a(K1422E) mice

Genetic variants in SCN2A, encoding the Na(V)1.2 voltage-gated sodium channel, are associated with a range of neurodevelopmental disorders with overlapping phenotypes. Some variants fit into a framework wherein gain-of-function missense variants that increase neuronal excitability lead to developmen...

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Detalles Bibliográficos
Autores principales:	Echevarria-Cooper, Dennis M, Hawkins, Nicole A, Misra, Sunita N, Huffman, Alexandra M, Thaxton, Tyler, Thompson, Christopher H, Ben-Shalom, Roy, Nelson, Andrew D, Lipkin, Anna M, George Jr, Alfred L, Bender, Kevin J, Kearney, Jennifer A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9433730/ https://www.ncbi.nlm.nih.gov/pubmed/35417922 http://dx.doi.org/10.1093/hmg/ddac087

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