Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Original research articel by Rauch et al. (2012).

Read the abstract here.

The SCN2A gene plays an important role in the brain’s development. Changes in this gene have been previously linked to seizure disorders and significant intellectual differences. In this study, children with SCN2A gene changes did not have a seizure disorder. Rather, these children had intellectual differences, behavior issues, and subtle differences in their facial features.One child with a change in SCN2A also exhibited a few of the features of autism. Changes in this gene are not often inherited.