My research is devoted to understanding the genetic basis of neurological disorders with an emphasis on epilepsy and a growing interest in closely related synaptic disorders that include seizures, such as autism and intellectual disability. Our lab’s current focus is on better modeling epilepsy as a complex trait at the physiological and molecular level using a multidisciplinary approach - genetics, genomics and biochemistry - in genes encoding ion channels, synaptic and RNA binding proteins. This also includes modeling severe pediatric epileptic encephalopathies in mice, as many of these disorders are of early childhood.
The lab’s work also includes collaboration with other IGM members in related areas and assisting Columbia’s Precision Medicine Initiative by providing oversight in mouse genetics, genomics and biology.
- Genetics of epilepsy in murine systems
- RNA-binding proteins in complex neurological disease
- The Jackson Laboratory Center for Precision Genetics; Disease Model Unit Project 1: Epilepsy
- Osasumwen Virginia Aimiuwu, Graduate Student
- Ariadna Amador, Postdoctoral Scholar
- Devin Jones, Graduate Student
- Ayla Kanber, Technician
- Sabrina Petri, Research Assistant
- Megha Sah, Postdoctoral Scholar
- Jia Jie (JJ) Teoh, Postdoctoral Scholar
- The Jackson Laboratory Center for Precision Genetics: From New Models to Novel Therapeutics.
- The Knockout Mouse Phenotyping Program (KOMP2)
- Asinof S, Mahaffey C, Beyer B, Frankel WN, Boumil R. Dynamin 1 isoform roles in a mouse model of severe childhood epileptic encephalopathy. Neurobiol Dis. 2016 June 27.pil: S0969-9961(16)30154-1.
- Dhindsa RS, Bradrick SS, Yao X, Heinzen EL, Petrovski S, Krueger BJ, Johnson MR, Frankel WN, Petrou S, Boumil RM, Goldstein DB. Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.
- Neurol Genet. 2015, Apr 17;1(1):e4.
- Asinof SK, Sukoff Rizzo SJ, Buckley AR, Beyer BJ, Letts VA, Frankel WN, Boumil RM. Independent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic Encephalopathy. PLoS Genet. 2015, Jun 30;11(6):e1005347.
- Letts VA, Beyer BJ, Frankel WN. Hidden in plain sight: spike-wave discharges in mouse inbred strains. Genes Brain Behav. 2014, Jul;13(6):519-26.
- Oliva MK, McGarr TC, Beyer BJ, Gazina E, Kaplan DI, Cordeiro L, Thomas E, Dib-Hajj SD, Waxman SG, Frankel WN, Petrou S. Physiological and genetic analysis of multiple sodium channel variants in a model of genetic absence epilepsy. Neurobiol Dis. 2014, Jul;67:180-90.
- Wagnon JL, Briese M, Sun W, Mahaffey CL, Curk T, Rot G, Ule J, Frankel WN. CELF4 regulates translation and local abundance of a vast set of mRNAs, including genes associated with regulation of synaptic function. PLoS Genet. 2012, 8(11):e1003067.
- Sun W, Wagnon JL, Mahaffey CL, Briese M, Ule J, Frankel WN. Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice. J Physiol. 2013, Jan 1;591(1):241-55.
- Tokuda S, Mahaffey CL, Monks B, Faulkner CR, Birnbaum MJ, Danzer SC, Frankel WN. A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice. Hum Mol Genet. 2011, Mar 1;20(5):988-99.
- Boumil RM, Letts VA, Roberts MC, Lenz C, Mahaffey CL, Zhang ZW, Moser T, Frankel WN. A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. PLoS Genet. 2010, Aug 5;6(8).
- Tokuda S, Beyer BJ, Frankel WN. Genetic complexity of absence seizures in substrains of C3H mice. Genes Brain Behav. 2009, Apr;8(3):283-9.
- Beyer B, Deleuze C, Letts VA, Mahaffey CL, Boumil RM, Lew TA, Huguenard JR, Frankel WN. Absence seizures in C3H/HeJ and knockout mice caused by mutation of the AMPA receptor subunit Gria4. Hum Mol Genet. 2008, Jun 15;17(12):1738-49.
- Yang Y, Mahaffey CL, Bérubé N, Maddatu TP, Cox GA, Frankel WN. Complex seizure disorder caused by Brunol4 deficiency in mice. PLoS Genet. 2007, Jul;3(7):e124.
- B.A. (Biology), The University of Pennsylvania, Philadelphia, PA
- M.S. (Genetics), Albert Einstein College of Medicine, Bronx, NY
- Ph.D. (Genetics), Albert Einstein College of Medicine, Bronx, NY
- Professor of Genetics and Development, Columbia University
- Director of Preclinical Disease Models, Institute for Genomic Medicine
- Professor, The Jackson Laboratory, Bar Harbor, ME
- Adjunct Professor, Tufts University School of Medicine, Sackler School of Graduate Biomed. Science, Boston, MA
- Adjunct Professor, The University of Maine, Orono, ME
- Associate Professor, The Jackson Laboratory, Bar Harbor, ME
- Assistant Professor, The Jackson Laboratory, Bar Harbor, ME