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Article

Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy.

Epilepsia - 1 Sept 2025

Harrison Alicia G, Magielski Jan H, McSalley Ian, Ganesan Shiva, Prentice Anna J, Cunningham Kristin G, Pierce Samuel R, Boland Michael J, Prosser Benjamin L, Helbig Ingo, McKee Jillian L

Abstract excerpt

OBJECTIVE: SYNGAP1-related disorders are common neurodevelopmental conditions characterized by autism spectrum disorder, developmental delay, intellectual disability, and a range of generalized seizure types. Disease-causing variants in SYNGAP1 typically occur de novo. This study aims to characterize inherited cases of SYNGAP1-related disorders. METHODS: Here we report three families including eight total...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40407699
DOI: 10.1111/epi.18469
PMCID: PMC12359701

Genes

SYNGAP1

Provenance

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