RTEL1 and progressive myoclonus epilepsy: The affected individuals in our study do not present any symptoms of telomere-associated disorders; however, considering the importance of RTEL1 in maintaining the genome integrity and the fact that hyperexcitation due to seizure could result in oxidative stress followed by genome instability, we speculate that mutations in RTEL1 along with its overexpression can impact the phenotype of PME.