ProfileIn 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.