Functional analysis of Cav3.2 T-type calcium channel mutations linked to childhood absence epilepsy

Jean B. Peloquin, Houman Khosravani, Wendy Barr, Chris Bladen, Rhian Evans, Janette Mezeyova, David Parker, Terrance P. Snutch, John E. McRory, Gerald W. Zamponi

Research output: Contribution to journalArticle

50 Citations (Scopus)

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 Cav3.2 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.
Original languageEnglish
Pages (from-to)655-658
Number of pages4
JournalEpilepsia
Volume47
Issue number3
DOIs
Publication statusPublished - 1 Mar 2006
Externally publishedYes

Keywords

  • calcium channel
  • inactivation
  • activation
  • T-type channels
  • epilepsy

Fingerprint Dive into the research topics of 'Functional analysis of Ca<sub>v</sub>3.2 T-type calcium channel mutations linked to childhood absence epilepsy'. Together they form a unique fingerprint.

Cite this