NIH R01 · 2024
Title: CRISPRa-based rescue of sensorimotor deficits in the Scn2a+/- mouse model of autism spectrum disorder Project Summary: Heterozygous loss-of-function mutations in the sodium channel gene SCN2A are strongly associated with autism spectrum disorder. SCN2A encodes the neuronal sodium channel NaV1.2, which contributes to membrane excitability in somatodendritic or axonal compartments, depending on cell class. Heterozygous loss of Scn2a, modeled in Scn2a+/- mice, causes deficits in cellular excitability and synaptic function across multiple brain areas, and drives robust systems- and behavioral-level deficits in sensory processing, neural coding, and sensorimotor learning. Here, our goal…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.