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Article Abstract
is an autism spectrum disorder (ASD) risk gene and encodes a voltage-gated sodium channel. However, the impact of ASD-associated SCN2A variants on human neuron development is unknown. We studied SCN2A using isogenic induced pluripotent stem cells (iPSCs), and patient-derived iPSCs harboring a R607* truncating variant. We used Neurogenin2 to generate excitatory (glutamatergic) neurons and found that and neurons displayed a reduction in synapse formation and excitatory synaptic activity. We found differential impact on actional potential dynamics and neuronal excitability that reveals a loss-of-function effect of the R607* variant. Our study reveals that a truncating variant impairs the development of human neuronal function.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10824931 | PMC |
| http://dx.doi.org/10.3389/fncel.2023.1239069 | DOI Listing |
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