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Page 1
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero López R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S. Lemke JR, et al. Among authors: fiedler b. Nat Genet. 2013 Sep;45(9):1067-72. doi: 10.1038/ng.2728. Epub 2013 Aug 11. Nat Genet. 2013. PMID: 23933819
KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.
Neubauer BA, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, Eberhard F, Muhle H, Stephani U, Garkisch S, Eeg-Olofsson O, Müller U, Sander T. Neubauer BA, et al. Among authors: fiedler b. Neurology. 2008 Jul 15;71(3):177-83. doi: 10.1212/01.wnl.0000317090.92185.ec. Neurology. 2008. PMID: 18625963
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: fiedler b. Neurology. 1998 Dec;51(6):1608-12. doi: 10.1212/wnl.51.6.1608. Neurology. 1998. PMID: 9855510
A multicenter, matched case-control analysis comparing burden-of-illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany.
Strzelczyk A, Schubert-Bast S, Bast T, Bettendorf U, Fiedler B, Hamer HM, Herting A, Kalski M, Kay L, Kieslich M, Klein KM, Kluger G, Kurlemann G, Mayer T, Neubauer BA, Polster T, von Spiczak S, Stephani U, Trollmann R, Wiemer-Kruel A, Wolff M, Irwin J, Carroll J, Pritchard C, Rosenow F. Strzelczyk A, et al. Among authors: fiedler b. Epilepsia. 2019 Aug;60(8):1697-1710. doi: 10.1111/epi.16099. Epub 2019 Jun 27. Epilepsia. 2019. PMID: 31247127
Genotype-phenotype correlation on 45 individuals with West syndrome.
Krey I, Krois-Neudenberger J, Hentschel J, Syrbe S, Polster T, Hanker B, Fiedler B, Kurlemann G, Lemke JR. Krey I, et al. Among authors: fiedler b. Eur J Paediatr Neurol. 2020 Mar;25:134-138. doi: 10.1016/j.ejpn.2019.11.010. Epub 2019 Nov 26. Eur J Paediatr Neurol. 2020. PMID: 31791873
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
Park JH, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hörtnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, Rust S, Marquardt T. Park JH, et al. Among authors: fiedler b. Am J Hum Genet. 2015 Dec 3;97(6):894-903. doi: 10.1016/j.ajhg.2015.11.003. Am J Hum Genet. 2015. PMID: 26637979 Free PMC article.
164 results