New work from @danfeldman.bsky.social's lab, exploring sensory representations in Scn2a loss of function mice. Whisker representations are blurred, akin to cortical visual impairment often seen in SCN2A kiddos. Rescuable w/ @nadavahituv.bsky.social's CRISPRa @P30!
www.biorxiv.org/content/10.6...
Heterozygous loss-of-function mutations in SCN2A, a sodium channel gene expressed in cortical pyramidal (PYR) cells, lead to a neurodevelopmental disorder characterized by autism, intellectual disabil...