top of page




Damaging mutations in Syngap1 that reduce the number of functional proteins are one of the most common causes of sporadic intellectual disability and are associated with schizophrenia and autism spectrum disorder. Early estimates suggest that these non-inherited genetic mutations account for two to eight percent of these intellectual disability cases. Sporadic intellectual disability affects approximately one percent of the worldwide population, suggesting that tens of thousands of individuals with intellectual disability may carry damaging Syngap1 mutations without knowing it.


 

Closer than ever to a personalized treatment solution for intellectual disability

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

 

Click here to read article.

Reduced Cognition in Syngap1 Mutants Is Caused by Isolated Damage within Developing Forebrain Excitatory Neurons 

http://www.cell.com/neuron/abstract/S0896-6273(14)00401-2

 

 

Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation


http://www.nejm.org/doi/full/10.1056/NEJMoa0805392
 

Brain scientists figure out how a protein crucial to learning and memory works ~~Johns Hopkins Medicine


http://www.eurekalert.org/pub_releases/2015-01/jhm-bsf010515.php

bottom of page