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Article

Species-conserved SYNGAP1 phenotypes associated with neurodevelopmental disorders.

Molecular and cellular neurosciences - 1 Sept 2018

Kilinc Murat, Creson Thomas, Rojas Camilo, Aceti Massimiliano, Ellegood Jacob, Vaissiere Thomas, Lerch Jason P, Rumbaugh Gavin

Abstract excerpt

SYNGAP1 loss-of-function variants are causally associated with intellectual disability, severe epilepsy, autism spectrum disorder and schizophrenia. While there are hundreds of genetic risk factors for neurodevelopmental disorders (NDDs), this gene is somewhat unique because of the frequency and penetrance of loss-of-function variants found in patients combined with the range of brain disorders associated with...

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Identifiers

PMID: 29580901
DOI: 10.1016/j.mcn.2018.03.008
PMCID: PMC6128754

Genes

SYNGAP1

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