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Article

SYNGAP1-related disorder: pathophysiology, epilepsy, cognitive and behavioral phenotypes, and precision therapeutic approaches.

Epilepsy & behavior : E&B - 1 Sept 2026

Samanta Debopam

Abstract excerpt

SYNGAP1-related disorder (SRD) is a monogenic synaptopathy caused bySYNGAP1haploinsufficiency, leading to a highly penetrant triad of intellectual disability, generalized epilepsy, and autism spectrum-associated behavioral and sensory abnormalities. At the molecular level, loss of the postsynaptic Ras GTPase-activating protein SynGAP disrupts Ras/Rap-ERK signaling, accelerates dendritic spine maturation, alters...

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Identifiers

PMID: 42161154
DOI: 10.1016/j.yebeh.2026.111098

Genes

SYNGAP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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