biostudies-literatureUnknownEchevarria-Cooper DMNINDS NIH HHSPathogenic variants in <i>SCN2A</i> are associated with a range of neurodevelopmental disorders (NDD). <i>SCN2A</i>-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 <i>SCN2A</i>-p.K1422E. We demonstrated that heterozygous <i>Scn2a</i>^{<i>K1422E</i>} 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. RodentbioRxiv : the preprint server for biology2023.04.27.538584https://www.ebi.ac.uk/biostudies/studies/S-EPMC10168397biostudies-literatureEvaluating the interplay between estrous cyclicity and induced seizure susceptibility in <i>Scn2a</i>^{<i>K1422E</i>} mice.PMC10168397U54 NS108874Echevarria-Cooper DMKearney JAfalseEvaluating the interplay between estrous cyclicity and induced seizure susceptibility in <i>Scn2a</i>^{<i>K1422E</i>} mice.Pathogenic variants in <i>SCN2A</i> are associated with a range of neurodevelopmental disorders (NDD). <i>SCN2A</i>-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 <i>SCN2A</i>-p.K1422E. We demonstrated that heterozygous <i>Scn2a</i>^{<i>K1422E</i>} 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. Rodent2023-01-01T00:00:00Z2023 Apr2025-04-18T18:44:20.971Z2025-04-07T06:24:58.526ZS-EPMC101683973716310010.1101/2023.04.27.538584