Whole-exome sequencing of epilepsy after acute symptomatic neonatal seizures

Twenty-five percent of children who survive acute symptomatic seizures as neonates go on to develop epilepsy. Whilst there are several known risk factors, currently not enough is known about the mechanisms behind the development of epilepsy following neonatal brain injury, and thus it is not yet possible to reliably predict the individual risk of developing this disease in this group of patients. In this episode, we speak to Adam Numis from UC San Francisco. He and his team used whole exome sequencing with targeted gene analysis to look for genetic risk factors for developing epilepsy following acute neonatal seizures, and to identify potential biological processes behind this epileptogenesis. Read the study here: https://www.nature.com/articles/s41390-021-01509-3