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Article

Clinical signatures of SYNGAP1-related disorders through data integration.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2025

McKee Jillian L, Magielski Jan H, Xian Julie, Cohen Stacey, Toib Jonathan, Harrison Alicia, Chen Chen, Kim Dan, Rathod Aakash, Brimble Elise, Fitter Nasha, Graglia J Michael, Helde Kathryn A, McKeown Ruggiero Sarah, Boland Michael J, Prosser Benjamin L, Sederman Rob, Helbig Ingo

Abstract excerpt

PURPOSE: SYNGAP1 is a genetic neurodevelopmental disorder characterized by generalized epilepsy, autism, and intellectual disability. Despite a comparatively high prevalence, the longitudinal landscape remains relatively unexplored, and complete characterization is essential for clinical trial readiness. METHODS: We combined electronic medical record data (n = 158) with insurance claims data (n = 246) to evaluate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40119723
DOI: 10.1016/j.gim.2025.101419
PMCID: PMC12419475

Genes

SYNGAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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