Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders
Using computational analysis common symptoms for 5 phenotypes of SCN2A were found. The model also predicted gain & loss of function variants.
Using computational analysis common symptoms for 5 phenotypes of SCN2A were found. The model also predicted gain & loss of function variants.
This study showed a direct relationship between autism behaviour and SCN2A loss of function mutation in a mouse model.
This study found behaviour abnormalities in SCN2A mouse models that can be used to assess the effectiveness of new treatments.
Help understand SCN2A by enrolling in this natural history study which is open to participants from any country.