Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Original research article by G.L. Carvill et al. (2013).

Read the article here.

This study sought to characterize the genetic origin of children who have seizure disorders. While has been previously shown that changes in SCN2A can cause seizures very early in life, the children in this study had differences in the times in which their seizures began. For some, seizures began within the first few hours of life (3 children), and for others, they began after a couple of weeks (2 children). The five children with SCN2A changes in this study all had some degree of intellectual involvement.