Article
Functional study of NIPA2 mutations identified from the patients with childhood absence epilepsy.
PloS one - 1 Jan 2014
Xie Han, Zhang Yuehua, Zhang Pingping, Wang Jingmin, Wu Ye, Wu Xiru, Netoff Theoden, Jiang Yuwu
Abstract excerpt
Recently many genetic mutations that are associated with epilepsy have been identified. The protein NIPA2 (non-imprinted in Prader-Willi/Angelman syndrome region protein 2) is a highly selective magnesium transporter encoded by the gene NIPA2 in which we have found three mutations (p.I178F, p.N244S and p.N334_E335insD) within a population of patients with childhood absence epilepsy (CAE). In this study,...
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