Role for Ion Conducting Proteins in Cortical Malformation Diseases

Individuals born with malformations in the brain’s cerebral cortex suffer from a number of disease phenotypes ranging from mild speech problems to severely debilitating diseases, such as cerebral palsy and uncontrollable epilepsy. Our research goal is to identity new gene mutations that are responsible for causing these malformation diseases, as well as to study the basic blueprints for building a normal cerebral cortex. Further, we will also explore the mechanisms behind a novel cortical malformation disease rooted in ion channel dysfunction, termed “developmental channelopathy”.