To this regard in NRE, exome sequencing has been applied in 10 studies (10/18–56%, including our case), with no additional pathogenic or likely pathogenic variants reported,14, 15, 17, 22, 28, 30, 35, 36 except for one case with epilepsy, hemimegalencephaly and multiple cavernomas where the additional PDCD10 gene variant suggested a digenic contribution to the heterogeneous phenotype.33 This evidence concerns the gene PDCD10 and epilepsy.