Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants

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Heron Khosravani et al CACNA1H 2007.pdf(335.01 KB)
Date
2007-08-14
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Wiley-Liss, Inc.
Abstract
The relationship between genetic variation in the T-type calcium channel gene CACNA1H and childhood absence epilepsy is well established. The purpose of this study was to investigate the range of epilepsy syndromes for which CACNA1H variants may contribute to the genetic susceptibility architecture and determine the electrophysiological effects of these variants in relation to proposed mechanisms underlying seizures.
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Heron, S. E., Khosravani, H., Varela, D., Bladen, C., Williams, T. C., Newman, M. R., … Zamponi, G. W. (2007). Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. Annals of Neurology, 62(6), 560–568. https://doi.org/10.1002/ana.21169
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http://hdl.handle.net/1880/106734
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Cumming School of Medicine Research & Publications