KDM2B and focal epilepsy: This individual harbored a de novo variant in PTEN with a consistent phenotype of macrocephaly and focal epilepsy but also had the episignature for KDM2B. Further analysis identified a paternally inherited missense variant in KDM2B. We performed methylation array analysis for the unaffected father and found that he, too, harbored the KDM2B episignature.