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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: lerche h. 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
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.
Haug K, Warnstedt M, Alekov AK, Sander T, Ramírez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H, Heils A. Haug K, et al. Among authors: lerche h. Nat Genet. 2003 Apr;33(4):527-32. doi: 10.1038/ng1121. Epub 2003 Mar 3. Nat Genet. 2003. PMID: 12612585 Retracted.
Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families.
Weber YG, Berger A, Bebek N, Maier S, Karafyllakes S, Meyer N, Fukuyama Y, Halbach A, Hikel C, Kurlemann G, Neubauer B, Osawa M, Püst B, Rating D, Saito K, Stephani U, Tauer U, Lehmann-Horn F, Jurkat-Rott K, Lerche H. Weber YG, et al. Among authors: lerche h. Epilepsia. 2004 Jun;45(6):601-9. doi: 10.1111/j.0013-9580.2004.48203.x. Epilepsia. 2004. PMID: 15144424 Free article.
Ion channel defects in idiopathic epilepsies.
Lerche H, Weber YG, Jurkat-Rott K, Lehmann-Horn F. Lerche H, et al. Curr Pharm Des. 2005;11(21):2737-52. doi: 10.2174/1381612054546815. Curr Pharm Des. 2005. PMID: 16101452 Review.
Exploration of the genetic architecture of idiopathic generalized epilepsies.
Hempelmann A, Taylor KP, Heils A, Lorenz S, Prud'homme JF, Nabbout R, Dulac O, Rudolf G, Zara F, Bianchi A, Robinson R, Gardiner RM, Covanis A, Lindhout D, Stephani U, Elger CE, Weber YG, Lerche H, Nürnberg P, Kron KL, Scheffer IE, Mulley JC, Berkovic SF, Sander T. Hempelmann A, et al. Among authors: lerche h. Epilepsia. 2006 Oct;47(10):1682-90. doi: 10.1111/j.1528-1167.2006.00677.x. Epilepsia. 2006. PMID: 17054691 Free article.
341 results