Evaluating the interplay between estrous cyclicity and induced seizure susceptibility in Scn2a^K1422E mice.

ABSTRACT: 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^K1422E female mice showed a distinct, reproducible distribution of flurothyl-induced seizure thresholds. Women with epilepsy often show a cyclical pattern of altered seizure susceptibility during specific phases of the menstrual cycle which can be attributed to fluctuations in hormones and corresponding changes in neurosteroid levels. Rodent

SUBMITTER: Echevarria-Cooper DM 

PROVIDER: S-EPMC10168397 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature