The purpose of this article was to review the embryologic stages of the cerebral cortex, illustrate the classification of disorders of cortical formation, and finally describe the main MR imaging features of these disorders. Disorders of cortical formation are classified according to the embryologic stage of the cerebral cortex at which the abnormality occurred. MR imaging shows diminished cort...

We review here those malformations of the cerebral cortex which are most often observed in epilepsy patients, for which a genetic basis has been elucidated or is suspected and give indications for genetic testing. There are three forms of lissencephaly (agyria-pachygyria) resulting from mutations of known genes, which can be distinguished because of their distinctive imaging features. They acco...

abstract objective the last two decades have seen major advancements in our understanding of some of the most common neurodevelopmental disorders in the field of child neurology. however, in the majority of individual patients, it is still not possible to arrive at a molecular diagnosis, due in part to lack of knowledge of molecular causes of these tremendously complex conditions. common geneti...

BackgroundCOL4A1/A2 variants affecting the alpha 1 and 2 chains of type IV collagen are increasingly recognized as a cause fetal neonatal intracranial hemorrhage, porencephaly, schizencephaly. Fetal magnetic resonance imaging (MRI) findings in COL4A1/A2-related disorders not well characterized.MethodsThis is retrospective case series MRI eight patients with intraparenchymal hemorrhage (IPH) COL...