ASXL3 and epilepsy: In 2018, Karaca et al. (2018) cited an individual harbouring both an ASXL3 mutation and the 15q11.2 BP1-BP2 microdeletion who manifested a more complex phenotype—developmental delay/intellectual disability, epilepsy, microcephaly, diffuse cortical atrophy and gastro-oesophageal reflux—and presented this case as key support for the “multilocus pathogenic variation” hypothesis.