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Page 1
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: bianchi a. 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
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: bianchi a. Hum Mol Genet. 2000 Jun 12;9(10):1465-72. doi: 10.1093/hmg/9.10.1465. Hum Mol Genet. 2000. PMID: 10888596
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: bianchi a. Epilepsia. 2006 Oct;47(10):1682-90. doi: 10.1111/j.1528-1167.2006.00677.x. Epilepsia. 2006. PMID: 17054691 Free article.
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: bianchi a. 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.
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. Among authors: bianchi a. Epilepsia. 2019 May;60(5):e31-e36. doi: 10.1111/epi.14657. Epub 2019 Feb 4. Epilepsia. 2019. PMID: 30719712
Exploration of a putative susceptibility locus for idiopathic generalized epilepsy on chromosome 8p12.
Sander T, Windemuth C, Schulz H, Saar K, Gennaro E, Riggio C, Bianchi A, Zara F, Rudolf G, Picard F, Bulteau C, Kaminska A, Cieuta C, Prud'homme JF, Dulac O, Bate L, Robinson R, Gardiner RM, Covanis A, de Haan GJ, Janssen GA, van Erp MG, Boezeman EH, Lindhout D, Heils A, Nürnberg P, Janz D; European Consortium on the Genetics of Idiopathic Generalized Epilepsy. Sander T, et al. Among authors: bianchi a. Epilepsia. 2003 Jan;44(1):32-9. doi: 10.1046/j.1528-1157.2003.51501.x. Epilepsia. 2003. PMID: 12581227 Free article.
No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1.
Sander T, Windemuth C, Schulz H, Saar K, Gennaro E, Bianchi A, Zara F, Bulteau C, Kaminska A, Ville D, Cieuta C, Prud'homme JF, Dulac O, Bate L, Gardiner RM, de Haan GJ, Janssen GA, Witte J, Halley DJ, Lindhout D, Wienker TF, Janz D; European Consortium on the Genetics of Idiopathic Generalized Epilepsy. Sander T, et al. Among authors: bianchi a. Am J Med Genet. 2002 Aug 8;114(6):673-8. doi: 10.1002/ajmg.10645. Am J Med Genet. 2002. PMID: 12210286
[Epilepsy genetics and genetic epilepsies].
Striano P, Bianchi A, Zara F, Minetti C. Striano P, et al. Among authors: bianchi a. Minerva Pediatr. 2011 Jun;63(3):217-25. Minerva Pediatr. 2011. PMID: 21654601 Italian.
Common subtypes of idiopathic generalized epilepsies: lack of linkage to D20S19 close to candidate loci (EBN1, EEGV1) on chromosome 20.
Sander T, Hildmann T, Wienker TF, Ramel C, Beck-Mannagetta G, Bianchi A, Sailer U, Berek K, Bauer G, Neitzel H, Schmitz B, Durner M, Johnson KJ, Janz D. Sander T, et al. Among authors: bianchi a. Am J Med Genet. 1996 Feb 16;67(1):31-9. doi: 10.1002/(SICI)1096-8628(19960216)67:1<31::AID-AJMG5>3.0.CO;2-V. Am J Med Genet. 1996. PMID: 8678111
2,363 results