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Vanderbilt Department of Neurology

Faculty By Divisions


Kevin C. Ess, M.D., Ph.D.

Associate Professor in the Departments of Pediatrics, Neurology, Cell & Developmental Biology, Biological Sciences

Director, Division of Pediatric Neurology

Program Director of the Child Neurology Residency Program.

Divisions of Pediatric Neurology and Epilepsy

Investigator, Kennedy Center for Research on Human Development

Member, Vanderbilt Center for Stem Cell Biology

BIOGRAPHICAL SKETCH

Dr. Ess graduated from the University of Cincinnati with a B.M. in Music Performance in 1989. He then earned a PhD in Developmental Biology (1996) and a M.D. degree (1998) from the University of Cincinnati. After an internship in Pediatrics at Denver Children’s Hospital, then became a Pediatric Neurology Resident at Washington University in St. Louis. Dr. Ess then completed fellowship training in Pediatric Neurophysiology at Washington University as well as post-doctoral research in Dr. David Gutmann’s laboratory. He was an Instructor of Neurology and Pediatrics at Washington University in St. Louis from 2004-2006.

Dr. Ess joined the faculty at Vanderbilt University Medical Center in 2006 as an Assistant Professor for the Departments of Neurology and Pediatrics. He is also an Investigator of the John F. Kennedy Center for Research on Human Development. He became Program Director  for the Child Neurology Residency program in 2012 and Chief of the Division of Pediatric Neurology in 2013. His research interests are on mechanisms of normal cortical development and how genetic aberrations result in brain malformations, epilepsy, and autism. His clinical activities focus on the management of intractable epilepsy in children. This includes medical therapies as well as diet and surgical management. He has a special interest in the diagnosis and treatment of the genetic disorder Tuberous Sclerosis Complex. While at Washington University, he founded a Tuberous Sclerosis Clinic in 2002 and established a comprehensive TSC clinic at Vanderbilt Children’s Hospital in 2006 as well.


RESEARCH SUMMARY

Research in the Ess 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 quite prevalent and is the most common genetic cause of seizures and autism in children. Our previous investigations led us to hypothesize that the TSC1/2 genes are essential for neural progenitor cell function able to impact 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 and zebrafish as well as as human stem cell systems. The ability to manipulate Tsc1 or Tsc2 gene expression in mouse progenitor cells and zebrafish 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.
 

Selected Publications:
 

Kim, S. H., Speirs, C. K., Solnica-Krezel, L. and Ess, K. C. (2011) Zebrafish model of tuberous sclerosis complex reveals cell-autonomous and non-cell-autonomous functions of mutant tuberin. Dis Model Mech 4(2): 255-67.

 

Fu C, Cawthon C, Clinkscales W, Bruce A, Winzenburger P and Ess, K. GABAergic Interneuron Development and Function is Modulated by the Tsc1 Gene. Cerebral Cortex (2011).

 

Carson R, Van Nielen D, Winzenburger P and Ess, K. Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin. Neurobiology of Disease (2012) 10.1016/j.nbd.2011.08.024

 

Neely MD, Litt M, Tidball A, Li G, Aboud A, Hopkins C, Chamberlin R, Hong C, Ess KC, and Bowman A. DMH1, a highly selective small molecule BMP inhibitor promotes neurogenesis of hiPCSs: ACS Chemical Neuroscience (2012) Jun 20;3(6):482-91. Epub 2012 Mar 5.

 

Armour, EA, Carson O, and Ess KC. "Cystogenesis and Elongated Primary Cilia in Tsc1-Deficient Distal Convoluted Tubules" American Journal of Physiology - Renal Physiology 303(4):F584-92 (2012).

 

Carson, RP, Fu, C, Winzenburger P and Ess, KC. “Deletion of Rictor in Neural Progenitor Cells Reveals Contributions of mTORC2 Signaling to Tuberous Sclerosis Complex” Human Molecular Genetics 22:140-52 PMID: 23049074 (2013).

 

Aboud, A, Tidball, A, Kumar, K, Neely, D, Ess KC, Erikson, KM and Bowman, AB, “Genetic risk for Parkinson's disease correlates with alterations in neuronal manganese sensitivity between two human subjects” Neurotoxicology (In Press).

 

Fu, C, and Ess, KC. “Conditional and Domain Specific Inactivation of the Tsc2 Gene in Neural Progenitor Cellsgenesis (2013).

 

Boglev,Y, Badrock, P, Trotter, A, Du,Q Richardson, E, Parslow, A, Markmiller, S, Hall, N, de Jong-Curtain, T, Ng, A,  Verkade, H, Ober, E, Field, H, Shin, D, Shin, C, Hannan, K, Hannan, R,  Pearson, R, Kim, S-H, Ess, KC, Lieschke, G, Stainier, D and Joan K. Heath, “Autophagy Induction is a Tor and Tp53-independent Cell Survival Response in a Zebrafish Model of Disrupted Ribosome Biogenesis” PLOS Genetics (2013).

 

Kim SH, Carson, R, Kowalski N, Bridges, R and Ess, KC. “Genetic interaction of tsc2 and p53 enhance tumorigenesis in zebrafish” DMM (2013).

 

Kim, SH, Scott, SA, Bennett, MJ, Carson, RP, Brown, HA, and Ess, KC. “Multi-organ Abnormalities and mTORC1 Activation in Zebrafish Model of Multiple Acyl-CoA Dehydrogenase DeficiencyPLOS Genetics” (2013).

 
CONTACT INFORMATION

Vanderbilt University
MCN-D4100
Nashville, TN 37232-8552

Clinic Phone: 615-936-5536


Fax: 615-322-0486

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