Loss of function (LOF) mutations in hundreds of genes are associated with human epilepsy. However, the high frequency of sequence variation among individuals presents a challenge to ascribe missense variants as causing epilepsy. This highly multidisciplinary research team develops a modular platform approach to characterize the functional, pharmacological, neuronal network and whole-animal consequences of genetic variants of uncertain significance (VUS) encountered in patients with a range of epilepsy types. The ultimate goal is to devise strategies for establishing diagnostic criteria and identifying potential targets for intervention. To this end, Project 1 begins the in vitro interrogation of multiple VUS in frequently encountered, non-ion-channel encoding epilepsy genes, focusing on one to two genes at a time.
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Professor, Feil Family Brain and Mind Research Institute
Department of Neuroscience, Department of Neurology
Weill Cornell Medical College
William J Herdman Professor, Research Professor
Department of Neurology, Michigan Neuroscience Institute
University of Michigan
Assistant Professor (Miami)/Adjunct Assistant Professor (Cornell)
Department of Computer Science (Miami)/Feil Family Brain and Mind Research Institute (Cornell)
University of Miami
Weill Cornell Medical College
Research Assistant Professor
Department of Neuroscience
Weill Cornell Medical College
Research Associate
Department of Neuroscience
Weill Cornell Medical College
Research Specialist
Parent Lab
University of Michigan
Bioinformatician
Department of Neuroscience
Weill Cornell Medical College
Senior Technician
Department of Neuroscience
Weill Cornell Medical College