DHCEO accumulation is a critical mediator of pathophysiology in a Smith-Lemli-Opitz syndrome model

► 7-DHC and its metabolite DHCEO accumulate in the brain in a mouse SLOS model. ► Oxysterol DHCEO levels differ across the various brain regions. ► 7-DHC derived oxysterols are neurotoxic. ► DHCEO accelerates differentiation and neurite outgrowth in neocortical neurons.