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Epilepsia. 2006 Mar;47(3):655-8.

Functional analysis of Ca3.2 T-type calcium channel mutations linked to childhood absence epilepsy.

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1
Department of Physiology and Biophysics, Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta.

Abstract

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 slowing of the time courses of both activation and inactivation across a wide range of membrane potentials. These changes are consistent with increased channel activity in response to prolonged membrane depolarizations.

CONCLUSIONS:

Taken together, these findings suggest that such little changes in channel gating may contribute to the etiology of CAE.

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