• 21330 Citations
1978 …2023
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Personal profile

Research Interests

Our research program is focused on the structure, function, pharmacology, and molecular genetics of ion channels. His laboratory has contributed greatly to understanding the mechanisms by which ion channel mutations cause a variety of inherited disorders of membrane excitability including congenital cardiac arrhythmia susceptibility and epilepsy. These basic and translational investigations have provided many opportunities to investigate the relationship between structure and function in ion channels and have helped establish important genotype-phenotype correlations for several human diseases and certain animal models. We were first to elucidate the functional consequences of an ion channel mutation linked to an inherited cardiac arrhythmia (Long-QT Syndrome). This discovery contributed greatly to understanding arrhythmia susceptibility in the disease and inspired use of drugs targeting persistent sodium current as a therapeutic strategy. Recently, the use of exome sequencing enabled us to discover human calmodulin mutations in congenital arrhythmia syndromes. Our studies of the molecular basis for genetic epilepsy have revealed new targets for antiepileptic drug development.

Training Experience

1986Residency, Vanderbilt University
1987Fellowship, University of Pennsylvania
1988Postdoctoral Fellowship, Institut Suisse de Recherches Experimentales sur le Cancer, Lausanne
1992Postdoctoral Fellowship, University of Pennsylvania

Education/Academic qualification

MD, University of Rochester

… → 1982

Keywords

  • Arrhythmias
  • Cellular Electrophysiology
  • Epilepsy
  • Genetics
  • Genomics
  • Ion Channels
  • Neurogenetics
  • Pharmacology

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Grants 2014 2023

Epilepsy
Brain Diseases
Mutation
Drug Approval
Pharmacology
Channelopathies
Epilepsy
Ion Channels
Neurons
Genes
Channelopathies
Epilepsy
Research
Ion Channels
Neurons

Research Output 1978 2018

2 Citations

A Mechanism of Calmodulin Modulation of the Human Cardiac Sodium Channel

Johnson, C. N., Potet, F., Thompson, M. K., Kroncke, B. M., Glazer, A. M., Voehler, M. W., Knollmann, B. C., George Jr, A. L. & Chazin, W. J., May 1 2018, In : Structure. 26, 5, p. 683-694.e3

Research output: Contribution to journalArticle

Sodium Channels
Calmodulin
Calcium
Magnetic Resonance Spectroscopy
Binding Sites
3 Citations

Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update

Phillips, E. J., Sukasem, C., Whirl-Carrillo, M., Müller, D. J., Dunnenberger, H. M., Chantratita, W., Goldspiel, B., Chen, Y. T., Carleton, B. C., George Jr, A. L., Mushiroda, T., Klein, T., Gammal, R. S. & Pirmohamed, M., Apr 1 2018, In : Clinical pharmacology and therapeutics. 103, 4, p. 574-581 8 p.

Research output: Contribution to journalArticle

Pharmacogenetics
Carbamazepine
Stevens-Johnson Syndrome
Genotype
Guidelines
1 Citations

Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood

Simmons, C. Q., Thompson, C. H., Cawthon, B. E., Westlake, G., Swoboda, K. J., Kiskinis, E., Ess, K. C. & George Jr, A. L., Jul 1 2018, In : Neurobiology of Disease. 115, p. 29-38 10 p.

Research output: Contribution to journalArticle

Neurons
Induced Pluripotent Stem Cells
Membrane Potentials
Mutation
Evoked Potentials

Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death

Tuveng, J. M., Berling, B. M., Bunford, G., Vanoye, C. G., Welch, R. C., Leren, T. P., George, A. L. & Rognum, T. O., Sep 1 2018, In : Forensic Science, Medicine, and Pathology. 14, 3, p. 367-371 5 p.

Research output: Contribution to journalArticle

Long QT Syndrome
Maternal Death
Sudden Death
Fetal Death
Mothers
4 Citations

Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations

Huang, H., Kuenze, G., Smith, J. A., Taylor, K. C., Duran, A. M., Hadziselimovic, A., Meiler, J., Vanoye, C. G., George Jr, A. L. & Sanders, C. R., Mar 7 2018, In : Science Advances. 4, 3, eaar2631.

Research output: Contribution to journalArticle

Long QT Syndrome
Mutation
Proteasome Endopeptidase Complex
Membrane Proteins
Congenital, Hereditary, and Neonatal Diseases and Abnormalities