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1-2 of 2 results for SYNGAP1-related intellectual disability

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Select article: Unveiling a de novo SYNGAP1 variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy – A case report

Open access

Case report

First published 2024

Unveiling a de novo SYNGAP1 variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy – A case report

Norma E de León Ojeda, Fridha V Villalpando-Vargas, Fabrizio A Mortola [...]

Sage Open Medical Case Reports

Select article: Roadmap to advance therapeutics for SYNGAP1 -related disorder: a patient organization perspective from SynGAP Research Fund

Open access

Review article

First published 2025

Roadmap to advance therapeutics for SYNGAP1 -related disorder: a patient organization perspective from SynGAP Research Fund

J. Michael Graglia, Aaron J. Harding, Kathryn A. Helde

Therapeutic Advances in Rare Disease

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