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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
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
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: schulz h. Am J Med Genet. 2002 Aug 8;114(6):673-8. doi: 10.1002/ajmg.10645. Am J Med Genet. 2002. PMID: 12210286
No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures.
Windemuth C, Schulz H, Saar K, Gennaro E, Bianchi A, Zara F, Bulteau C, Kaminska A, Ville D, Cieuta C, Nabbout-Tarantino R, Prud'homme JF, Dulac O, Bate L, Gardiner RM, Lindhout D, Wienker TF, Janz D, Sander T; European Consortium on the Genetics of Idiopathic Generalized Epilepsy. Windemuth C, et al. Among authors: schulz h. Epilepsy Res. 2002 Sep;51(1-2):23-9. doi: 10.1016/s0920-1211(02)00097-9. Epilepsy Res. 2002. PMID: 12350381
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: schulz h. Epilepsia. 2003 Jan;44(1):32-9. doi: 10.1046/j.1528-1157.2003.51501.x. Epilepsia. 2003. PMID: 12581227 Free article.
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: schulz h. Nat Genet. 2003 Apr;33(4):527-32. doi: 10.1038/ng1121. Epub 2003 Mar 3. Nat Genet. 2003. PMID: 12612585 Retracted.
2,124 results