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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: stephani u. 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.
Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.
Neubauer BA, Fiedler B, Himmelein B, Kämpfer F, Lässker U, Schwabe G, Spanier I, Tams D, Bretscher C, Moldenhauer K, Kurlemann G, Weise S, Tedroff K, Eeg-Olofsson O, Wadelius C, Stephani U. Neubauer BA, et al. Among authors: stephani u. Neurology. 1998 Dec;51(6):1608-12. doi: 10.1212/wnl.51.6.1608. Neurology. 1998. PMID: 9855510
Neuroborreliosis and isolated trochlear palsy.
Müller D, Neubauer BA, Waltz S, Stephani U. Müller D, et al. Among authors: stephani u. Eur J Paediatr Neurol. 1998;2(5):275-6. doi: 10.1016/s1090-3798(98)80042-1. Eur J Paediatr Neurol. 1998. PMID: 10726831
Clinical spectrum and genetics of Rolandic epilepsy.
Neubauer BA, Hahn A, Stephani U, Doose H. Neubauer BA, et al. Among authors: stephani u. Adv Neurol. 2002;89:475-9. Adv Neurol. 2002. PMID: 11968472 Review. No abstract available.
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.
279 results