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Effects of Ca v 3.2 channel mutations linked to idiopathic generalized epilepsy
Author(s) -
Khosravani Houman,
Bladen Christopher,
Parker David B.,
Snutch Terrance P.,
McRory John E.,
Zamponi Gerald W.
Publication year - 2005
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20458
Subject(s) - epilepsy , missense mutation , phenotype , idiopathic generalized epilepsy , childhood absence epilepsy , generalized epilepsy , calcium channel , gene , mutation , juvenile myoclonic epilepsy , medicine , neuroscience , genetics , biology , calcium
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