Several CNVs are consistently associated with MCD, the most common of which are the 22q11 and 1p36 deletions associated with polymicrogyria, the 17p13.3 deletion (encompassing LIS1 (also known as PAFAH1B1), YWHAE and other genes) that causes Miller–Dieker syndrome and isolated lissencephaly, and 6qter deletions associated with various brain malformations including polymicrogyria and PVNH33,35,36. Here, PAFAH1B1 is linked to lissencephaly spectrum disorders.