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Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy

Authors

  • Houman Khosravani MSc,

    1. Cellular and Molecular Neurobiology Research Group, Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta
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  • Christopher Bladen BSc,

    1. Cellular and Molecular Neurobiology Research Group, Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta
    2. NeuroMed Technologies, Inc.; University of British Columbia, Vancouver, British Columbia, Canada
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  • David B. Parker PhD,

    1. NeuroMed Technologies, Inc.; University of British Columbia, Vancouver, British Columbia, Canada
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  • Terrance P. Snutch PhD,

    1. Michael Smith Laboratories, University of British Columbia, Vancouver, British Columbia, Canada
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  • John E. McRory PhD,

    1. Cellular and Molecular Neurobiology Research Group, Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta
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  • Gerald W. Zamponi PhD

    Corresponding author
    1. Cellular and Molecular Neurobiology Research Group, Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta
    • Department of Physiology and Biophysics, University of Calgary, 3330 Hospital Drive NW, Calgary, T2N 4N1, Canada
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Abstract

Heron and colleagues (Ann Neurol 2004;55:595–596) identified three missense mutations in the Cav3.2 T-type calcium channel gene (CACNA1H) in patients with idiopathic generalized epilepsy. None of the variants were associated with a specific epilepsy phenotype and were not found in patients with juvenile absence epilepsy or childhood absence epilepsy. Here, we introduced and functionally characterized these three mutations using transiently expressed human Cav3.2 channels. Two of the mutations exhibited functional changes that are consistent with increased channel function. Taken together, these findings along with previous reports, strongly implicate CACNA1H as a susceptibility gene in complex idiopathic generalized epilepsy. Ann Neurol 2005

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