Chapter 55 - Human Mutations Associated With Brain Malformations Resulting in Hyperexcitability in Rodents

Abstract

The development of the human cerebral cortex is a complex and tightly organized process. Disruption of any of the overlapping steps that contribute to this process can result in a wide range of developmental brain disorders (DBD) that are associated, in various combinations, with severe childhood epilepsy, intellectual and motor disability, and autism spectrum disorder. Pediatric epilepsies are among the most devastating neurologic disorders, and epilepsy research has a long history of comparative anatomical and physiological studies on a range of mammalian species. A number of animal models have been generated to help researchers in investigating basic mechanisms underlying DBD, and implementing new diagnostic approaches, as well as antiepileptic medications. Here, we review to what extent different rodent models have helped researchers elucidating how mutations in specific genes cause brain malformations and epilepsy, as well as how specific treatments may help in alleviating the phenotype.