Children’s Hospital of Philadelphia researchers identify instances of SYNGAP1-related disorders caused by inherited genetic variants
Peer-Reviewed Publication
Updates every hour. Last Updated: 4-Nov-2025 18:11 ET (4-Nov-2025 23:11 GMT/UTC)
Researchers identified a novel gene associated with neurodevelopmental disorders and epilepsy. The study leveraged large data depositories, state-of-the-art computational techniques and community-based gene matching to identify this new gene, which is a critical early step in improving diagnosis and eventually developing new treatment methods.