In 1995 S.F. Berkovic and colleagues identified the first mutation in an ion channel (nicotinic acetylcholine receptor) associated with a genetic form of human epilepsy. Since then genetic linkage analysis has identified mutations in sodium, potassium, calcium, and GABA ion channels in patients with inherited seizure disorders. My main research interest is to deduce how these mutations affect ion channel structure and function. We study the effects of monogenic epilepsy mutations on protein expression and electrophysiology in both cultured cells as well as genetically modified mice. In addition, we study the effects of these mutations on the development of seizures and neurobehavioral abnormalities in genetically modified mice.

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    biochemistry EEG electroencephalogram electrophysiology Epilepsy genetically modified mice immunohistochemistry ion channel neurobehavior protein expression protein trafficking seizure sleep