Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy
Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy
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DOI：
10.1002/ana.20458
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发表时间：
2005-05-01
影响因子：
11.2
通讯作者：
Zamponi, GW
中科院分区：
文献类型：
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作者：
Khosravani, H;Bladen, C;Zamponi, GW
Heron及其同事（Ann Neurol 2004;55：595-596）在特发性全身性癫痫患者中鉴定了Cav3.2 T型钙通道基因（CACNA 1H）中的三个错义突变。没有一个变异与特定的癫痫表型相关，也没有在青少年失神癫痫或儿童失神癫痫患者中发现。在这里，我们介绍了这三个突变，并使用瞬时表达的人Cav3.2通道的功能特点。其中两个突变表现出与通道功能增加一致的功能变化。总之，这些研究结果沿着与以前的报告，强烈暗示CACNA 1 H作为一个易感基因在复杂的特发性全身性癫痫。
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.