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Article

Disruption of the autism-associated gene <i>SCN2A</i> alters synaptic development and neuronal signaling in patient iPSC-glutamatergic neurons

2021-09-15

Abstract excerpt

<h4>SUMMARY</h4> 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 Neurog...

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Identifiers and source

Literature Corpus work
6406a452-0ae6-5aec-bcca-1bd580a19ee9
DOI
10.1101/2021.09.14.460368
Open publication

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