Browsing by Author "Berkovic, Samuel F."

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    Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants
    (Wiley-Liss, Inc., 2007-08-14) Heron, Sarah E.; Khosravani, Houman; Varela, Diego L.; Bladen, Chris; Williams, Tristiana C.; Newman, Michelle R.; Scheffer, Ingrid; Berkovic, Samuel F.; Mulley, John C.; Zamponi, Gerald W.
    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.