Article

Strain-dependent effects on neurobehavioral and seizure phenotypes in <i> Scn2a <sup>K1422E</sup> </i> mice

2023-06-07

Abstract excerpt

Pathogenic variants in SCN2A are associated with a range of neurodevelopmental disorders (NDD). Despite being largely monogenic, SCN2A -related NDD show considerable phenotypic variation and complex genotype-phenotype correlations. Genetic modifiers can contribute to variability in disease phenotypes associated with rare driver mutations. Accordingly, different genetic backgrounds across inbred rodent strains ha...

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Literature Corpus work: 1229686c-76f6-511f-b671-cc3d3c0a9a31
DOI: 10.1101/2023.06.06.543929

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