Article

Translatable electrophysiological and behavioral abnormalities in a humanized model of <i>SYNGAP1</i> -disorder

2024-08-22

Abstract excerpt

Heterozygous variants in SYNGAP1 and STXBP1 cause distinct neurodevelopmental disorders due to haploinsufficiency of essential synaptic proteins. As gene targeted approaches to correct these disorders often target non-conserved genomic regions, thus limiting their clinical translation, we generated humanized mouse models wherein the entire Syngap1 or Stxbp1 loci were replaced with their human counterparts. St...

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Literature Corpus work: 2fa9cca9-867d-55cb-982a-d36dca069498
DOI: 10.1101/2024.08.22.609238

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