Article
Altered gene expression profile in a mouse model of SCN8A encephalopathy.
Experimental neurology - 1 Feb 2017
Sprissler Ryan S, Wagnon Jacy L, Bunton-Stasyshyn Rosie K, Meisler Miriam H, Hammer Michael F
Abstract excerpt
SCN8A encephalopathy is a severe, early-onset epilepsy disorder resulting from de novo gain-of-function mutations in the voltage-gated sodium channel Nav1.6. To identify the effects of this disorder on mRNA expression, RNA-seq was performed on brain tissue from a knock-in mouse expressing the patient mutation p.Asn1768Asp (N1768D). RNA was isolated from forebrain, cerebellum, and brainstem both before and after...
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