Preprint
Disruption of the autism-associated gene SCN2A alters synaptic development and neuronal signaling in patient iPSC-glutamatergic neurons
Abstract
SUMMARY SCN2A is an autism spectrum disorder (ASD) risk gene and encodes a voltage-gated sodium channel. However, the impact of autism-associated SCN2A de novo variants on human neuron development is unknown. We studied SCN2A using isogenic SCN2A -/- induced pluripotent stem cells (iPSCs), and patient-derived iPSCs harboring a p.R607* or a C-terminal p.G1744* de novo truncating variant. We used Neurogenin2 to generate excitatory glutamatergic …
Authors
Brown CO; Uy J; Murtaza N; Rosa E; Alfonso A; Xing S; Dave BM; Kilpatrick S; Cheng AA; White SH
DOI
10.1101/2021.09.14.460368
Preprint server
bioRxiv