Article
Functional analysis of Ca3.2 T-type calcium channel mutations linked to childhood absence epilepsy.
Epilepsia - 1 Mar 2006
Peloquin Jean B, Khosravani Houman, Barr Wendy, Bladen Chris, Evans Rhian, Mezeyova Janette, Parker David, Snutch Terrance P, McRory John E, Zamponi Gerald W
Abstract excerpt
PURPOSE: Childhood absence epilepsy (CAE) is an idiopathic form of seizure disorder that is believed to have a genetic basis. METHODS: We examined the biophysical consequences of seven mutations in the Ca(v)3.2 T-type calcium channel gene linked to CAE. RESULTS: Of the channel variants examined, one of the mutants, a replacement of glycine 848 in the domain II-S2 region with serine, resulted in significant...
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