Determining the pattern of whole genome methylation in patients with juvenile myoclonic epilepsy

Resumo

According to the World Health Organization, there are more than 50 million individuals with epilepsy worldwide; approximately 10% of these patients have juvenile myoclonic epilepsy (JME). JME is considered one of the most common forms of the genetic generalized epilepsies. Currently, it is believed that most patients with JME have a complex inheritance with different genetic and non-genetic factors involved. Therefore, we hypothesize that there may be epigenetic factors that influence the pattern of DNA methylation, which could be involved in the predisposition of JME. To test our hypothesis, we will analyze the pattern of DNA methylation in patients with JME and compared it to control individuals. We will use the whole-genome bisulfite sequencing (WGBS) technique. This is the first study accessing differentially methylated regions throughout the genome in JME patients. Our results may lead to a better understanding of the different etiological factors which may be predisposing to JME.