Article
NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy.
Human genetics - 1 Jul 2012
Jiang Yuwu, Zhang Yuehua, Zhang Pingping, Sang Tian, Zhang Feng, Ji Taoyun, Huang Qionghui, Xie Han, Du Renqian, Cai Bin, Zhao Haijuan, Wang Jingmin, Wu Ye, Wu Husheng, Xu Keming, Liu Xiaoyan, Chan Piu, Wu Xiru
Abstract excerpt
While pathogenic copy number variations (CNVs) in 15q11.2 were recently identified in Caucasian patients with idiopathic generalized epilepsies (IGEs), the epilepsy-associated gene(s) in this region is/are still unknown. Our study investigated whether the CNVs in 15q11.2 are associated with childhood absence epilepsy (CAE) in Chinese patients and whether the selective magnesium transporter NIPA2 gene affected by...
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