Article

Analysis of retrospective natural history data collected from patients with SYNGAP1-related disorders: a preliminary examination of the Citizen database

2025-07-15

Abstract excerpt

<title>Abstract</title> Background <italic>SYNGAP1</italic>-related disorder (SRD) is a rare neurodevelopmental disorder caused by genetic variants. A major challenge is the characterization of SRD, which requires assessment of several outcomes. We considered natural history data from the Citizen database on 65 patients with SRD in eight data domains: demographics, genetics, growth parameters, standardized cli...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 3be7f377-f554-5ad5-9c41-6c808202e3c3
DOI: 10.21203/rs.3.rs-4010297/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Analysis of retrospective natural history data collected from patients with SYNGAP1-related disorders: a preliminary examination of the Citizen databaseDOI 10.21203/rs.3.rs-4010297/v1Read

Clinical signatures ofSYNGAP1-related disorders through data integrationSemantic proximity Read

Clinical signatures of SYNGAP1-related disorders through data integration.Semantic proximity Read

A Prospective Natural History Study Protocol for Clinical Trial Readiness in Synaptic DisordersSemantic proximity Read

Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.Semantic proximity Read

Longitudinal characterization of clinical, developmental, and behavioral phenotypes in 101 children and adults with FOXG1 syndromeSemantic proximity Read

Molecular Characterization and Genotype-phenotype Correlations of SYNGAP1 Variants in a Polish Pediatric Cohort With Neurodevelopmental DisordersSemantic proximity Read

Novel de novo heterozygous mutation on SYNGAP1 from the Indian populationSemantic proximity Read

The International SCN8A Patient Registry: A Scientific Resource to Advance the Understanding and Treatment of a Rare Pediatric Neurodevelopmental Syndrome.Semantic proximity Read

Behavioural and neurodevelopmental characteristics of SYNGAP1.Semantic proximity Read

Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes.Semantic proximity Read

Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC): a study protocolSemantic proximity Read

Deciphering the dynamic clinical patterns inSCN8A-related disorders using real-world dataSemantic proximity Read