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Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
Lal D, Ruppert AK, Trucks H, Schulz H, de Kovel CG, Kasteleijn-Nolst Trenité D, Sonsma AC, Koeleman BP, Lindhout D, Weber YG, Lerche H, Kapser C, Schankin CJ, Kunz WS, Surges R, Elger CE, Gaus V, Schmitz B, Helbig I, Muhle H, Stephani U, Klein KM, Rosenow F, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Lieb W, Franke A, Strauch K, Gieger C, Schurmann C, Schminke U, Nürnberg P; EPICURE Consortium; Sander T. Lal D, et al. Among authors: schulz h. PLoS Genet. 2015 May 7;11(5):e1005226. doi: 10.1371/journal.pgen.1005226. eCollection 2015 May. PLoS Genet. 2015. PMID: 25950944 Free PMC article.
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
EPICURE Consortium; EMINet Consortium; Steffens M, Leu C, Ruppert AK, Zara F, Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve A, Crichiutti G, de Kovel CG, Kasteleijn-Nolst Trenité D, de Haan GJ, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Steinhoff BJ, Kleefuß-Lie AA, Kunz WS, Surges R, Elger CE, Muhle H, von Spiczak S, Ostertag P, Helbig I, Stephani U, Møller RS, Hjalgrim H, Dibbens LM, Bellows S, Oliver K, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Guipponi M, Malafosse A, Thomas P, Nabbout R, Baulac S, Leguern E, Guerrero R, Serratosa JM, Reif PS, Rosenow F, Mörzinger M, Feucht M, Zimprich F, Kapser C, Schankin CJ, Suls A, Smets K, De Jonghe P, Jordanova A, Caglayan H, Yapici Z, Yalcin DA, Baykan B, Bebek N, Ozbek U, Gieger C, Wichmann HE, Balschun T, Ellinghaus D, Franke A, Meesters C, Becker T, Wienker TF, Hempelmann A, Schulz H, Rüschendorf F, Leber M, Pauck SM, Trucks H, Toliat MR, Nürnberg P, Avanzini G, Koeleman BP, Sander T. EPICURE Consortium, et al. Among authors: schulz h. Hum Mol Genet. 2012 Dec 15;21(24):5359-72. doi: 10.1093/hmg/dds373. Epub 2012 Sep 4. Hum Mol Genet. 2012. PMID: 22949513
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A; Genetic Commission of the Italian League against Epilepsy; EuroEPINOMICS CoGIE Consortium; Gormley P, Becker F, Weber YG, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Nürnberg P, Sander T, Lerche H, Neubauer BA. Lal D, et al. PLoS One. 2016 Mar 18;11(3):e0150426. doi: 10.1371/journal.pone.0150426. eCollection 2016. PLoS One. 2016. PMID: 26990884 Free PMC article. Clinical Trial.
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.
Schulz H, Ruppert AK, Zara F, Madia F, Iacomino M, S Vari M, Balagura G, Minetti C, Striano P, Bianchi A, Marini C, Guerrini R, Weber YG, Becker F, Lerche H, Kapser C, Schankin CJ, Kunz WS, Møller RS, Oliver KL, Bellows ST, Mullen SA, Berkovic SF, Scheffer IE, Caglayan H, Ozbek U, Hoffmann P, Schramm S, Tsortouktzidis D, Becker AJ, Sander T. Schulz H, et al. Epilepsia. 2019 May;60(5):e31-e36. doi: 10.1111/epi.14657. Epub 2019 Feb 4. Epilepsia. 2019. PMID: 30719712
Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study.
Wolking S, Schulz H, Nies AT, McCormack M, Schaeffeler E, Auce P, Avbersek A, Becker F, Klein KM, Krenn M, Møller RS, Nikanorova M, Weckhuysen S, Consortium E, Cavalleri GL, Delanty N, Depondt C, Johnson MR, Koeleman BP, Kunz WS, Marson AG, Sander JW, Sills GJ, Striano P, Zara F, Zimprich F, Weber YG, Krause R, Sisodiya S, Schwab M, Sander T, Lerche H. Wolking S, et al. Among authors: schulz h. Pharmacogenomics. 2020 Apr;21(5):325-335. doi: 10.2217/pgs-2019-0179. Epub 2020 Apr 20. Pharmacogenomics. 2020. PMID: 32308125
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
EPICURE Consortium; Leu C, de Kovel CG, Zara F, Striano P, Pezzella M, Robbiano A, Bianchi A, Bisulli F, Coppola A, Giallonardo AT, Beccaria F, Trenité DK, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Kleefuss-Lie AA, Hallman K, Kunz WS, Elger CE, Muhle H, Stephani U, Møller RS, Hjalgrim H, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Nabbout R, Baulac S, Leguern E, Serratosa JM, Rosenow F, Feucht M, Unterberger I, Covanis A, Suls A, Weckhuysen S, Kaneva R, Caglayan H, Turkdogan D, Baykan B, Bebek N, Ozbek U, Hempelmann A, Schulz H, Rüschendorf F, Trucks H, Nürnberg P, Avanzini G, Koeleman BP, Sander T. EPICURE Consortium, et al. Among authors: schulz h. Epilepsia. 2012 Feb;53(2):308-18. doi: 10.1111/j.1528-1167.2011.03379.x. Epub 2012 Jan 13. Epilepsia. 2012. PMID: 22242659 Free article.
Genome search for susceptibility loci of common idiopathic generalised epilepsies.
Sander T, Schulz H, Saar K, Gennaro E, Riggio MC, Bianchi A, Zara F, Luna D, Bulteau C, Kaminska A, Ville D, Cieuta C, Picard F, Prud'homme JF, Bate L, Sundquist A, Gardiner RM, Janssen GA, de Haan GJ, Kasteleijn-Nolst-Trenité DG, Bader A, Lindhout D, Riess O, Wienker TF, Janz D, Reis A. Sander T, et al. Among authors: schulz h. Hum Mol Genet. 2000 Jun 12;9(10):1465-72. doi: 10.1093/hmg/9.10.1465. Hum Mol Genet. 2000. PMID: 10888596
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: schulz 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
Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus.
Schulz H, Ruppert AK, Herms S, Wolf C, Mirza-Schreiber N, Stegle O, Czamara D, Forstner AJ, Sivalingam S, Schoch S, Moebus S, Pütz B, Hillmer A, Fricker N, Vatter H, Müller-Myhsok B, Nöthen MM, Becker AJ, Hoffmann P, Sander T, Cichon S. Schulz H, et al. Nat Commun. 2017 Nov 15;8(1):1511. doi: 10.1038/s41467-017-01818-4. Nat Commun. 2017. PMID: 29142228 Free PMC article.
2,124 results