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<i>SYNGAP1</i> haploinsufficiency disrupts early neurodevelopment and accelerates intrinsic neuronal maturation in human patient-derived models

2026-07-16

Abstract excerpt

SYNGAP1 developmental and epileptic encephalopathy (DEE) is a severe neurodevelopmental disorder characterised by intellectual disability, developmental delay, and refractory epilepsy caused by heterozygous variants in SYNGAP1 , which encodes Synaptic Ras GTPase-activating protein 1. While SYNGAP1 is best known for its role at the postsynaptic density, increasing evidence indicates that haploinsufficiency also d...

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Literature Corpus work
79952277-bea5-5914-9b99-b360d630dad5
DOI
10.64898/2026.07.15.738667
Open publication

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<i>SYNGAP1</i> haploinsufficiency disrupts early neurodevelopment and accelerates intrinsic neuronal maturation in human patient-derived modelsDOI 10.64898/2026.07.15.738667
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