Recent reports have implicated TBL1XR1 in a range of disorders including ASD, ID, epilepsy (including West Syndrome), attention-deficit/hyperactivity disorder (ADHD), and schizophrenia, with reported genetic variants ranging from typically heterozygous, de novo missense variants to microdeletions and microduplications [8, 9, 17–28]. The gene discussed is TBL1XR1; the disease is epilepsy.