Article

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

2025-10-17

Abstract excerpt

<title>Abstract</title> <p> Background Pathogenic variants in <italic>SYNGAP1</italic> are a major cause of developmental and epileptic encephalopathy, typically presenting with intellectual disability, epilepsy, and autism spectrum disorder. Despite increasing recognition worldwide, genotype–phenotype data from Central and Eastern Europe remain limited. Methods We conducted a nationwide study of 30 unrelated...

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Literature Corpus work: 8b330b91-c2a8-5b4a-8c87-d886e2d4774d
DOI: 10.21203/rs.3.rs-7635804/v1

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Molecular Characterization and Genotype-phenotype Correlations of SYNGAP1 Variants in a Polish Pediatric Cohort With Neurodevelopmental DisordersDOI 10.21203/rs.3.rs-7635804/v1Read

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