Polymicrogyria is one of the most common malformations of cortical development, characterized by abnormal cortical lamination and excessive folding of the cortical surface (28), and while this is most commonly associated with microcephaly or normal head size, an association with macrocephaly (which was prominent in our cohort) is typically related to mTOR-hyperactivating mutations in genes of the PI3K-AKT-mTOR pathway (29–31). This evidence concerns the gene AKT1 and microcephaly.