Article

Genotype-Phenotype Correlations and Putative Modifier Genes in SYNGAP1 Encephalopathy

2025-10-07

Abstract excerpt

Synaptic Ras GTPase-Activating Protein 1 (SynGAP) is a key regulator of synaptic plasticity, neurodevelopment, and neuronal circuit function. It is encoded by the SYNGAP1 gene, in which de novo dominant pathogenic variants are a major cause of SYNGAP1 Encephalopathy, a rare neurodevelopmental disorder characterized by intellectual disability, epilepsy, autistic traits, and other clinical manifestations. While some...

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Literature Corpus work: 224de3fa-94e0-54ba-8562-ceee73790611
DOI: 10.1101/2025.10.01.25336001

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