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Department of Neurology

Faculty By Divisions


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

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

Dr. Ess is the Program Director of the Child Neurology Residency Program.

Divisions of Child 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 a member of the John F. Kennedy Center for Research on Human Development. 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 clinic at Vanderbilt Children’s Hospital 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 as well as as human stem 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.
 

Selected Publications:
 
1. Ess KC. Hutton JJ. Aronow BJ. Double-stranded phosphorothioate oligonucleotide modulation of gene expression. Annals of the New York Academy of Sciences. 716:321-3, 1994.
 
2. Hutton JJ. Ess KC. Witte DP. Aronow BJ. c-Myb and the coordinate regulation of thymic genes. Transactions of the American Clinical & Climatological Association. 107:115-24, 1995.
 
3. Ess KC. Whitaker TL. Cost GJ. Witte DP. Hutton JJ. Aronow BJ. A central role for a single c-Myb binding site in a thymic locus control region. Molecular & Cellular Biology. 15(10):5707-15, 1995.
 
4. Ess K. Chen H. Kier A. Brackenbury R. Suppression of tumorigenicity, but not invasion, in glioblastoma/HeLa cell hybrids. Journal of Cellular Physiology. 162(3):341-7, 1995.
Ess KC. Witte DP. Bascomb CP. Aronow BJ. Diverse developing mouse lineages exhibit high-level c-Myb expression in immature cells and loss of expression upon differentiation. Oncogene. 18(4):1103-11, 1999.
 
5. Wong M, Ess K, Landt M. Cerebrospinal fluid neuron-specific enolase following seizures in children: role of etiology. Jrl.Child Neurol. 17(4):261-4, 2002.
 
6. Wong M, Ess K, Uhlmann E, Jansen L, Li W, Phelan C, Crino P, Mennerick P, Yamada K, Gutmann D. Astrocyte-Specific Tsc1 Inactivation Leads to Impaired Glutamate Transport in a Mouse Epilepsy Model of Tuberous Sclerosis Complex. Annals of Neurology 54 251-56, 2003
 
7. Ess K, Uhlmann E, Li W, Hongzhen L, DeClue J, Crino P, Gutmann D. Expression Profiling in Tuberous Sclerosis Complex (TSC) Knockout Mouse Astrocytes to Characterize Human TSC Brain Pathology. Glia 46 28-40 2004.
 
8. Ess K, Camp K, Tu B, Gutmann D. Developmental Origin of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex. Neurology 64, 1446-1449, 2005.
 
9. Zeng L, Ouyang Y, Gazit V, Cirrito J, Jansen L, Ess K, Yamada K, Wozniak D, Holtzman D, Gutmann D., Wong M. Abnormal glutamate homeostasis and impaired synaptic plasticity and learning in a mouse model of tuberous sclerosis complex. Neurobiology of Disease. 2007.
 
10. 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.
 
11. 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).
 
12. 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
 
13. 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.
 
14. Armour, EA, Carson O, and Ess KC. "Cystogenesis and Elongated Primary Cilia in Tsc1-Deficient Distal Convoluted Tubules" American Journal of Physiology - Renal Physiology (In Press),



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This page was last updated November 11, 2012 and is maintained by Michael Curatolo