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• W2897313877 abstract "Dravet syndrome is a severe, early-onset epileptic encephalopathy frequently resulting from de novo mutations of SCN1A. Mice with heterozygous deletion of Scn1a (Scn1a+/−) model many features of Dravet syndrome, including spontaneous seizures and premature lethality. Scn1a+/− mice exhibit variable phenotype penetrance and expressivity dependent upon the strain background. On the 129S6/SvEvTac (129) strain, Scn1a+/− mice do not display an overt phenotype. However Scn1a+/− mice on the [129S6xB6]F1 strain (F1.Scn1a+/−) exhibit juvenile-onset spontaneous seizures and premature lethality. QTL mapping identified several modifier loci responsible for strain-dependent differences in survival of Scn1a+/− mice, but these loci do not account for all the observed phenotypic variance. Global RNA-seq analysis was performed to identify additional genes and pathways that may contribute to variable phenotypes. Hippocampal gene expression was analyzed in wild-type (WT) and Scn1a+/− mice on both F1 and 129 strains, at two time points during disease development. There were few gene expression differences between 129.WT and 129.Scn1a+/− mice and approximately 100 genes with small expression differences (6–36%) between F1.WT and F1.Scn1a+/− mice. Strain-specific gene expression differences were more pronounced, with dozens of genes with >1.5-fold expression differences between 129 and F1 strains. Age-specific and seizure-related gene expression differences were most prominent, with hundreds of genes with >2-fold differences in expression identified between groups with and without seizures, suggesting potential differences in developmental trajectory and/or homeostatic plasticity during disease onset. Global expression differences in the context of Scn1a deletion may account for strain-dependent variation in seizure susceptibility and survival observed in Scn1a+/− mice." @default.
• W2897313877 created "2018-10-26" @default.
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• W2897313877 date "2019-01-01" @default.
• W2897313877 modified "2023-10-10" @default.
• W2897313877 title "Gene expression profiling in a mouse model of Dravet syndrome" @default.
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• W2897313877 doi "https://doi.org/10.1016/j.expneurol.2018.10.010" @default.
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