Global prevalence of potentially pathogenic short-tandem repeats in an epilepsy cohort

This study aims to decipher the role of short tandem repeats (STRs) of epilepsy patients. Whole genome short-read sequencing data of 752 epileptic patients and controls was used to look for known STR expansions associated to increased risk of neurodevelopmental diseases or epilepsy and to try to identify new STR expansions associated to an increased risk of developing epilepsy. Results show one hit of particular interest on ARX gene that could be causal for one EE patient. It is also shown that the risk threshold for many of the trinucleotide-repeat diseases fall in the tail of the distribution where it is not possible to distinguish between at risk and not at risk individuals. We also looked at new possible STRs associated to epilepsy in genes previously known to play a role in epilepsy and in whole genome genes, but further validation and development of new predicting tools are needed to be able to predict their association or their functional impact.