Understanding the genetic characteristics of moldovan multiplex epilepsy families using whole exome sequencing

Abstract

Background: • Although several theories have been proposed to explain the origin of epilepsy, its cause is still unknown in about half of cases. • In most cases, the link between a gene and the condition is not yet clear and studying multiple affected members of a family is needed.. Purpose of the study: • To estimate the genetic biomarkers of multiplex epilepsy families from the Republic of Moldova and their role in epileptogenesis. Material and methods: • Whole Exome Sequencing (WES) was performed on the first 11 epilepsy families from a newly started National Epilepsy Registry (Fig. 2, 3). • It was followed by a descriptive analysis of the data. Results: • Our National registry counts now 74 families including 186 members: subjects with epilepsy (106) and the control group (80 healthy relatives). (Fig.1) • We identified potential biomarkers for familial epilepsy, via Whole Exome Sequencing, as summarized bellow. • Subjects will continue to be recruited and the Registry updated. Conclusions: • The preliminary results of our studies are truly revolutionary, as they represent an absolute novelty for the country and the eastern “genetically virgin” territories..