Kearney, Jennifer A., PhD

Current Research

Current Research

Research in my laboratory is focused on studying genetic modifiers that influence the clinical severity of epilepsy. Variable expressivity is a common feature in patients with epilepsy caused by sodium channel mutations, with family members carrying the same mutation often exhibiting differences in clinical severity. Similarly, mouse models with mutations in voltage-gated sodium channels have a variable epilepsy phenotype depending on their genetic background. We use genetic and genomic approaches to identify modifier genes that contribute to phenotype variability in mouse models and also investigate whether the same genes contribute to epilepsy risk in patients. We then use neurophysiological approaches to study the mechanisms underlying phenotype modification. Isolation of epilepsy modifier genes will contribute to our understanding of the molecular basis of epilepsy and may suggest novel targets for improved treatment of human epilepsy.

Selected Publications

Selected Publications

Hawkins N.A., Martin M.S., Frankel W.N., Kearney J.A., Escayg A. (2011) Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. Neurobiology of Disease, 41(3):655-60.

Jorge B.S., Campbell C.M., Miller A.R., Rutter E.D., Gurnett C.A., Vanoye C.G., George A.L. Jr. Kearney J.A. (2011) Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility. Proceedings of the National Academy of Sciences of the United States of America, 108(13):5443-8.

Hawkins N.A., Kearney J.A. (2012) Confirmation of an epilepsy modifier locus on mouse chromosome 11 and candidate gene analysis by RNA-Seq. Genes, Brain and Behavior, 11:452-460.

Vanoye C.G., Gurnett C.A., Holland K.D., George A.L. Jr., Kearney J.A. (2014) Novel SCN3A Variants Associated with Focal Epilepsy in Children. Neurobiology of Disease, 62:313-322.

Miller A.R., Hawkins N.A., McCollom C.E., Kearney J.A. (2014) Mapping genetic modifiers of survival in a mouse model of Dravet syndrome. Genes, Brain and Behavior, 13(2):63-172.

Mistry A.M., Miller A.R., Thompson C.H., Vanoye C.G., George A.L. Jr., Kearney J.A. (2014) Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice, Neurobiology of Disease, 65:1-11.

Torkamani A., Bersell K., Jorge, B.S., Bjork R.L., Friedman J.R., Bloss C.S., Cohen J., Gupta S., Naidu S., Vanoye C.G., George A.L., Kearney J.A. (2014) De novo KCNB1 mutations in Epileptic Encephalopathy. Annals of Neurology, 76:529-540.

Information

Name

Kearney, Jennifer A., PhD

Title

Associate Professor

Email

jennifer.kearney@northwestern.edu

Office Phone

312-503-4894

Department

Pharmacology

Office

Searle 8-521

Website

http://www.pharm.northwestern.edu/faculty/profile.html?xid=30324

Areas of Research

Molecular Neuroscience, Neurobiology of Disease

NU Scholar Profile

https://northwestern.pure.elsevier.com/en/persons/24f731b4-3c7c-4efd-8dcc-8a44b7e40046