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. Electrical signaling is a fundamental mechanism by which cells initiate and regulate contraction of muscles, beating of the heart, secretion of hormones, and communication among neurons. Ion channels are crucial components of the machinery to accomplish this signaling, by forming pores in the cell membrane to allow the passage of electric current. In the past decade, mutations of ion channel genes have been found for inherited diseases that cause episodic paralysis, familial migraine, episodic ataxia, fatal cardiac arrhythmias, and some forms of epilepsy. We have been studying the consequences of mutations in sodium and calcium channels that have been linked to muscle disorders causing episodic paralysis or stiffness (myotonia).
