LAUSR

Malformations of cortical development represent an important cause of developmental disability and neurologic morbidity and mortality.1 Advances in genetic methodology, particularly the widespread implementation of next-generation DNA sequencing technology (e.g., multigene panels and whole exome sequencing [WES]), have significantly improved diagnostic yield in neurogenetic disease.2 The current yield for a range of conditions, including brain malformations, epilepsy,3 global developmental delay, and movement disorders, is approximately 50%.