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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

Research interests

  • Epilepsy
  • Genetics
  • Genomics
  • Neuroscience
  • Pharmacology

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Grants

  • Research Output

    • 2410 Citations
    • 54 Article
    • 11 Comment/debate
    • 6 Review article
    • 1 Chapter

    CACNA1H variants are not a cause of monogenic epilepsy

    Calhoun, J. D., Huffman, A. M., Bellinski, I., Kinsley, L., Bachman, E., Gerard, E., Kearney, J. A. & Carvill, G. L., Jun 1 2020, In : Human mutation. 41, 6, p. 1138-1144 7 p.

    Research output: Contribution to journalArticle

    Open Access
  • Epilepsy Benchmarks Area IV: Limit or Prevent Adverse Consequence of Seizures and Their Treatment Across the Life Span

    for the NINDS/AES Benchmarks Stewards Committee, Jan 1 2020, In : Epilepsy Currents. 20, 1_suppl, p. 31S-39S

    Research output: Contribution to journalReview article

    Open Access
  • Open Access
  • 2 Scopus citations

    Gene expression profiling in a mouse model of Dravet syndrome

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

    Research output: Contribution to journalArticle

  • 5 Scopus citations
  • 3 Scopus citations