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Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy.
Kudin AP, Baron G, Zsurka G, Hampel KG, Elger CE, Grote A, Weber Y, Lerche H, Thiele H, Nürnberg P, Schulz H, Ruppert AK, Sander T, Cheng Q, Arnér ES, Schomburg L, Seeher S, Fradejas-Villar N, Schweizer U, Kunz WS. Kudin AP, et al. Among authors: seeher s. Free Radic Biol Med. 2017 May;106:270-277. doi: 10.1016/j.freeradbiomed.2017.02.040. Epub 2017 Feb 21. Free Radic Biol Med. 2017. PMID: 28232204
Secisbp2 is essential for embryonic development and enhances selenoprotein expression.
Seeher S, Atassi T, Mahdi Y, Carlson BA, Braun D, Wirth EK, Klein MO, Reix N, Miniard AC, Schomburg L, Hatfield DL, Driscoll DM, Schweizer U. Seeher S, et al. Antioxid Redox Signal. 2014 Aug 20;21(6):835-49. doi: 10.1089/ars.2013.5358. Epub 2014 Feb 4. Antioxid Redox Signal. 2014. PMID: 24274065 Free PMC article.