Article

Evaluating the interplay between estrous cyclicity and induced seizure susceptibility in <i> Scn2a <sup>K1422E</sup> </i> mice

2023-04-27

Abstract excerpt

Pathogenic variants in SCN2A are associated with a range of neurodevelopmental disorders (NDD). SCN2A -related NDD show wide phenotypic heterogeneity, suggesting that modifying factors must be considered in order to properly elucidate the mechanisms of pathogenic variants. Recently, we characterized neurological phenotypes in a mouse model of the variant SCN2A -p.K1422E. We demonstrated that heterozygous Scn2a...

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Literature Corpus work: d98c1e74-4989-58f6-959b-314f8239d656
DOI: 10.1101/2023.04.27.538584

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