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Integrated multiomic profiling of <i>SCN2A</i> loss-of-function reveals widespread molecular remodeling in patient hiPSC-derived neurons

2026-03-23

Abstract excerpt

SCN2A -related neurodevelopmental disorders comprise a genetically and mechanistically diverse group of early-onset brain conditions. Loss-of-function (LoF) variants in SCN2A represent one of the strongest genetic risk factors for autism spectrum disorder and intellectual disability, yet the molecular cascade linking reduced NaV1.2 dosage to neuronal dysfunction remains poorly understood. Here, we combine deep is...

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Literature Corpus work
587265e3-a8fd-5f4e-ab36-0f7252fd5900
DOI
10.64898/2026.03.20.713167
Open publication

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Integrated multiomic profiling of <i>SCN2A</i> loss-of-function reveals widespread molecular remodeling in patient hiPSC-derived neuronsDOI 10.64898/2026.03.20.713167
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