Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy
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DOI: 10.1111/epi.18469
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… read more here.
Keywords: variants define; disorder; familial syngap1; syngap1 ... See more keywords