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Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler EE. Mefford HC, et al. Among authors: stephani u. PLoS Genet. 2010 May 20;6(5):e1000962. doi: 10.1371/journal.pgen.1000962. PLoS Genet. 2010. PMID: 20502679 Free PMC article.
Association of BRD2 polymorphisms with photoparoxysmal response.
Lorenz S, Taylor KP, Gehrmann A, Becker T, Muhle H, Gresch M, Tauer U, Sander T, Stephani U. Lorenz S, et al. Among authors: stephani u. Neurosci Lett. 2006 May 29;400(1-2):135-9. doi: 10.1016/j.neulet.2006.02.026. Epub 2006 Mar 3. Neurosci Lett. 2006. PMID: 16516380
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T. Helbig I, et al. Among authors: stephani u. Nat Genet. 2009 Feb;41(2):160-2. doi: 10.1038/ng.292. Epub 2009 Jan 11. Nat Genet. 2009. PMID: 19136953 Free PMC article.
Non-response to antiepileptic pharmacotherapy is associated with the ABCC2 -24C>T polymorphism in young and adult patients with epilepsy.
Ufer M, Mosyagin I, Muhle H, Jacobsen T, Haenisch S, Häsler R, Faltraco F, Remmler C, von Spiczak S, Kroemer HK, Runge U, Boor R, Stephani U, Cascorbi I. Ufer M, et al. Among authors: stephani u. Pharmacogenet Genomics. 2009 May;19(5):353-62. doi: 10.1097/fpc.0b013e328329940b. Pharmacogenet Genomics. 2009. PMID: 19415824
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z; EPICURE Consortium; Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF. Dibbens LM, et al. Hum Mol Genet. 2009 Oct 1;18(19):3626-31. doi: 10.1093/hmg/ddp311. Epub 2009 Jul 10. Hum Mol Genet. 2009. PMID: 19592580 Free PMC article.
279 results