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Ess, Kevin C., Department of Pediatric Neurology

Kevin C. Ess, M.D., Ph.D.
Assistant Professor, Neurology and Pediatrics
MRBIII, Suite 6160
615-322-0486 (office)

Research in my laboratory is focused on deciphering the molecular mechanisms required for normal brain development and how disruptions of these processes lead to malformations of the cerebral cortex. Children with such aberrations typically suffer from severe seizure disorders (epilepsy) as well as severe cognitive and behavioral problems such as autism. To approach these complex neurologic disorders, we have been studying tuberous sclerosis complex (TSC), a disease that prominently features cortical malformations and is caused by loss of either the TSC1 or TSC2 genes. TSC is fairly prevalent and is the most common genetic cause of both seizures and autism in children. Our previous investigations led us to hypothesize that the TSC1/2 genes are essential for neural progenitor cell function and control the differentiation and migration of neurons and glia. Abnormalities of these developmental processes may cause the cortical malformations in TSC that underlie epilepsy as well as autism in these patients. To study these complicated abnormalities of the human brain, we have generated experimental models of TSC using genetically engineered mice as well as in vitro progenitor cell systems. The ability to manipulate Tsc1 or Tsc2 gene expression in mouse progenitor cells allows us to determine the role of these genes during neuronal and glial cell specification, differentiation, and migration. Our long term goal is to use these models to precisely define the molecular pathways used by the TSC1/2 genes during human brain development. This knowledge will facilitate the development of rational and hopefully more efficacious therapies for children who suffer from epilepsy or autism.