SYNGAP1‐related disorders are common neurodevelopmental conditions characterized by autism spectrum disorder, developmental delay, intellectual disability, and a range of generalized seizure types. Disease‐causing variants in SYNGAP1 typically occur de novo.… Click to show full abstract
SYNGAP1‐related disorders are common neurodevelopmental conditions characterized by autism spectrum disorder, developmental delay, intellectual disability, and a range of generalized seizure types. Disease‐causing variants in SYNGAP1 typically occur de novo. This study aims to characterize inherited cases of SYNGAP1‐related disorders.
Keywords:
variants define;
disorder;
familial syngap1;
syngap1;
syngap1 variants;
define boundaries
Journal Title: Epilepsia
Year Published: 2025
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Journal Title: Epilepsia
Year Published: 2025
Link to full text (if available)
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recommendations!