Familial <scp><i>SYNGAP1</i></scp> variants define the boundaries of a complex neurodevelopmental disorder with epilepsy
We demonstrate that SYNGAP1-related disorder can occur in families and that clinical presentations of familial cases are not limited to milder phenotypes. We estimate that 3% of cases of SYNGAP1-related disorder are inherited. Recognition of familial SYNGAP1-related disorders delineates edge cases of a relatively common neurodevelopmental disorder and has implications for variant interpretation and clinical practice.
Authors
- Shiva Ganesan (ORCID: https://orcid.org/0000-0002-2518-6505)
- Jillian L. McKee (ORCID: https://orcid.org/0000-0001-9724-0403)
- Benjamin L. Prosser (ORCID: https://orcid.org/0000-0003-3696-9131)
- Abiola Harrison
- Michael J. Boland (ORCID: https://orcid.org/0000-0001-5649-9603)
- Samuel R. Pierce (ORCID: https://orcid.org/0000-0003-3215-4162)
- Kristin Cunningham
- Jan Magielski (ORCID: https://orcid.org/0000-0001-7290-4939)
- Ian McSalley (ORCID: https://orcid.org/0009-0007-9131-4847)
- Ingo Helbig (ORCID: https://orcid.org/0000-0001-8486-0558)
- Anna J. Prentice
Institutions
- Children's Hospital of Philadelphia (US)
- University of Pennsylvania (US)
- Philadelphia University (US)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-05-23
- DOI
- https://doi.org/10.1111/epi.18469
- Citations
- 2
- Primary Topic
- Carbohydrate Chemistry and Synthesis
- Type
- article
- Field-Weighted Citation Impact
- 1.87
Funders
- American Epilepsy Society
- Epilepsy Foundation
- American Brain Foundation
- American Academy of Neurology
- Epilepsy Society
- National Institute of Neurological Disorders and Stroke