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Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T. de Kovel CG, et al. Among authors: stephani u. Brain. 2010 Jan;133(Pt 1):23-32. doi: 10.1093/brain/awp262. Epub 2009 Oct 20. Brain. 2010. PMID: 19843651 Free PMC article.
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: stephani u. Epilepsia. 2004 Jun;45(6):601-9. doi: 10.1111/j.0013-9580.2004.48203.x. Epilepsia. 2004. PMID: 15144424 Free article.
Photosensitivity: genetics and clinical significance.
Neubauer BA, Waltz S, Grothe M, Hahn A, Tuxhorn I, Sander T, Kurlemann G, Stephani U. Neubauer BA, et al. Among authors: stephani u. Adv Neurol. 2005;95:217-26. Adv Neurol. 2005. PMID: 15508925 No abstract available.
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.
Kearney JA, Wiste AK, Stephani U, Trudeau MM, Siegel A, RamachandranNair R, Elterman RD, Muhle H, Reinsdorf J, Shields WD, Meisler MH, Escayg A. Kearney JA, et al. Among authors: stephani u. Pediatr Neurol. 2006 Feb;34(2):116-20. doi: 10.1016/j.pediatrneurol.2005.07.009. Pediatr Neurol. 2006. PMID: 16458823
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
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: stephani u. Epilepsia. 2006 Oct;47(10):1682-90. doi: 10.1111/j.1528-1167.2006.00677.x. Epilepsia. 2006. PMID: 17054691 Free article.
279 results