Effects of Ca<sub>v</sub>3.2 channel mutations linked to idiopathic generalized epilepsy

Houman Khosravani, Christopher Bladen, David B. Parker, Terrance P. Snutch, John E. McRory, Gerald W. Zamponi

doi:10.1002/ana.20458

Effects of Ca<sub>v</sub>3.2 channel mutations linked to idiopathic generalized epilepsy

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公開日: 2005-04-25

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http://onlinelibrary.wiley.com/termsAndConditions#vor

DOI

10.1002/ana.20458

公開者: Wiley

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<jats:title>Abstract</jats:title><jats:p>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</jats:p>