A specific mutation (G848S) in the Cav3.2 T-type calcium channel alters channel gating, which may contribute to the etiology of Childhood Absence Epilepsy.
G848S may contribute to childhood absence epilepsy via Cav3.2 gating changes; leaves open causal role and clinical relevance pending further validation.
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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Peloquin et al. (2006) studied this question.
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