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Personal profile

Research Interests

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, and family members carrying the same mutation often exhibit differences in the clinical severity of epilepsy. 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.

Training Experience

2002Postdoctoral Fellowship, University of Michigan

Education/Academic qualification

PhD, University of Michigan

… → 1997

Keywords

  • Epilepsy
  • Genetics
  • Genomics
  • Neuroscience
  • Pharmacology

Fingerprint Fingerprint is based on mining the text of the experts' scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 13 Similar Profiles
Epilepsy Medicine & Life Sciences
Myoclonic Epilepsy Medicine & Life Sciences
Sodium Channels Medicine & Life Sciences
Mutation Medicine & Life Sciences
Seizures Medicine & Life Sciences
Voltage-Gated Sodium Channels Medicine & Life Sciences
Brain Diseases Medicine & Life Sciences
Sodium Medicine & Life Sciences

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Grants 2014 2023

Epilepsy
Seizures
Mutation
Brain
Neurophysiology
Animal Models
Epilepsy
Phenotype
Intellectual Disability
Brain Diseases
Therapeutic Uses
Brain Stem
Seizures
Myoclonic Epilepsy
Seizures
Pharmacology
Brain Diseases
Acute Disease

Research Output 1995 2019

  • 2007 Citations
  • 50 Article
  • 11 Comment/debate
  • 5 Review article

Gene expression profiling in a mouse model of Dravet syndrome

Hawkins, N. A., Calhoun, J. D., Huffman, A. M. & Kearney, J. A., Jan 1 2019, In : Experimental Neurology. 311, p. 247-256 10 p.

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Gene Expression Profiling
Seizures
Gene Expression
Phenotype
Developmental Genes
Brain Diseases
Mutation

A transient developmental window of fast-spiking interneuron dysfunction in a mouse model of dravet syndrome

Favero, M., Sotuyo, N. P., Lopez, E., Kearney, J. A. & Goldberg, E. M., Sep 5 2018, In : Journal of Neuroscience. 38, 36, p. 7912-7927 16 p.

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Interneurons
Epilepsy
NAV1.1 Voltage-Gated Sodium Channel
Action Potentials

Expanding the zebrafish toolkit for epilepsy research

Kearney, J. A., Jan 1 2018, In : Epilepsy Currents. 18, 1, p. 56-58 3 p.

Research output: Contribution to journalComment/debate

Zebrafish
Epilepsy
Research

Peripherally derived T regulatory and γδ T cells have opposing roles in the pathogenesis of intractable pediatric epilepsy

Xu, D., Robinson, A. P., Ishii, T., Duncan, DA. S., Alden, T. D., Goings, G. E., Ifergan, I., Podojil, J. R., Penaloza-MacMaster, P., Kearney, J. A., Swanson, G. T., Miller, S. D. & Koh, S., Apr 1 2018, In : Journal of Experimental Medicine. 215, 4, p. 1169-1186 18 p.

Research output: Contribution to journalArticle

Regulatory T-Lymphocytes
Interleukin-17
Granulocyte-Macrophage Colony-Stimulating Factor
Pediatrics
T-Lymphocytes