Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly

Abstract

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%.