Neuro2A

CRISPR-mediated Stxbp1 gene activation ameliorates epileptic and aggressive phenotypes in Stxbp1-haploinsufficient mice

Mutations in the syntaxin-binding protein 1 (STXBP1) gene, which encodes the presynaptic protein Munc18-1, cause a spectrum of severe epileptic encephalopathies and neurodevelopmental disorders, including Ohtahara syndrome, for which no curative treatment is currently available. Because the disease pathomechanism is thought to be driven by haploinsufficiency, restoring expression of the wild-type allele to physiological levels could provide therapeutic benefit. Here, we evaluated...