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Article

CRISPR-mediated transcriptional activation as a mutation-independent therapeutic strategy for <i>SYNGAP1</i> -related intellectual disability

2025-10-29

Abstract excerpt

Synaptic Ras GTPase-activating protein (SynGAP) regulates synaptic strength and neuronal signaling, with essential roles in cortical development and synaptic plasticity. Heterozygous loss-of-function variants in SYNGAP1 cause SYNGAP1 -related intellectual disability (SRID), a severe neurodevelopmental disorder characterized by epilepsy, developmental delay, and autism. SYNGAP1 mutations often result in haploins...

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Identifiers and source

Literature Corpus work
d81770b1-bb8c-59a4-8908-9b7585729601
DOI
10.1101/2025.10.28.685100
Open publication

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CRISPR-mediated transcriptional activation as a mutation-independent therapeutic strategy for <i>SYNGAP1</i> -related intellectual disabilityDOI 10.1101/2025.10.28.685100
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