Gene expression profiling in a mouse model of Dravet syndrome.

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 a

SUBMITTER: Hawkins NA 

PROVIDER: S-EPMC6287761 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature