Article

Autism-associated <i>SCN2A</i> deficiency disrupts cortico-striatal circuitry in human brain assembloids

2025-06-03

Abstract excerpt

<h4>SUMMARY</h4> Profound autism spectrum disorder (ASD) is frequently attributable to single-gene mutations, with SCN2A (voltage-gated sodium channel Na V 1.2) protein-truncating variants (PTVs) being one of the most penetrant. Although cortico-striatal circuitry is implicated as a key node in ASD, the impact of SCN2A deficiency on human neural circuits is unknown. Using the human cortico-striatal assembloid...

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Literature Corpus work: d85b9176-b132-59c5-ae45-9edfac5f7e78
DOI: 10.1101/2025.06.02.657036

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