The primary research interests of our laboratory are how ion channels regulate the electrical excitability of cells and how defects in these channels lead to human disease. In the past two decades, mutations of ion channel genes have been found to be the primary cause for over 100 human diseases. Our research program is focused on the mechanistic basis for a group of inherited conditions that alter the electrical excitability of skeletal muscle, including periodic paralysis and myotonia. We have characterized the gating defects of mutant channels, generated computational models of muscle excitability, and produced genetically-engineered mice to gain insights on the pathomechanisms of these disorders and to explore therapeutic interventions.
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