Article
Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy.
Free radical biology & medicine - 1 May 2017
Kudin Alexei P, Baron Gregor, Zsurka Gábor, Hampel Kevin G, Elger Christian E, Grote Alexander, Weber Yvonne, Lerche Holger, Thiele Holger, Nürnberg Peter, Schulz Herbert, Ruppert Ann-Kathrin, Sander Thomas, Cheng Qing, Arnér Elias Sj, Schomburg Lutz, Seeher Sandra, Fradejas-Villar Noelia, Schweizer Ulrich, Kunz Wolfram S
Abstract excerpt
Increased oxidative stress has been widely implicated in the pathogenesis in various forms of human epilepsy. Here, we report a homozygous mutation in TXNRD1 (thioredoxin reductase 1) in a family with genetic generalized epilepsy. TXNRD1 is an essential selenium-containing enzyme involved in detoxification of reactive oxygen species (ROS) and redox signaling. The TXNRD1 mutation p.Pro190Leu affecting a highly...
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