Patient 6 had a frameshift variant (c.325dup) in N-terminal regulatory domain introducing premature termination that is predicted to lead to nonsense-mediated decay (NMD) and LoF, similar to the previously published epilepsy patient (c.327dup).7 Patient 9 carried a chromosomal microdeletion arr[GRCh37]2q23.3q24.1(154790212_158488241)x1 of size >3.6 Mb (3698029 bp) encompassing the NR4A2 gene. The gene discussed is NR4A2; the disease is epilepsy.