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.
SCN2A severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors
This study showed a direct relationship between autism behaviour and SCN2A loss of function mutation in a mouse model.
Generation and basic characterization of a gene-trap knockout mouse model of SCN2A
This study found behaviour abnormalities in SCN2A mouse models that can be used to assess the effectiveness of new treatments.
SCN2A International Natural History Study
Help understand SCN2A by enrolling in this natural history study which is open to participants from any country.