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 abstract here.

A group of 65 genes either known or suspected to cause epilepsy were selected for genetic sequence analysis. This study found that one person had a change in the MBD5 gene that was thought to be related to neurodevelopmental differences such as autism spectrum disorder or epilepsy.