PUBLIKATIONEN - 2010

Muhle H, Steinich I, von Spiczak S, Franke A, Weber Y, Lerche H, Wittig M, Heidemann S, Suls A, de Jonghe P, Marini C, Guerrini R, Scheffer IE, Berkovic SF, Stephani U, Siebert R, Sander T, Helbig I, Tönnies H. A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy. Epilepsia. 2010 Dec;51(12):2453-6.

Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet. 2010 Nov;42(11):1021-6.

Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD. Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genet Med. 2010 Oct;12(10):641-7.

Reutlinger C, Helbig I, Gawelczyk B, Subero JI, Tönnies H, Muhle H, Finsterwalder K, Vermeer S, Pfundt R, Sperner J, Stefanova I, Gillessen-Kaesbach G, von Spiczak S, van Baalen A, Boor R, Siebert R, Stephani U, Caliebe A. Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region. Epilepsia. 2010 Sep;51(9):1870-3.

Wittig M, Helbig I, Schreiber S, Franke A. CNVineta: a data mining tool for large case-control copy number variation datasets. Bioinformatics. 2010 Sep 1;26(17):2208-9.

von Spiczak S, Muhle H, Helbig I, de Kovel CG, Hampe J, Gaus V, Koeleman BP, Lindhout D, Schreiber S, Sander T, Stephani U. Association study of TRPC4 as a candidate gene for generalized epilepsy with photosensitivity. Neuromolecular Med. 2010 Sep;12(3):292-9.

Caliebe A, Kroes HY, van der Smagt JJ, Martin-Subero JI, Tönnies H, van 't Slot R, Nievelstein RA, Muhle H, Stephani U, Alfke K, Stefanova I, Hellenbroich Y, Gillessen-Kaesbach G, Hochstenbach R, Siebert R, Poot M. Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene. Eur J Med Genet. 2010 Jul-Aug;53(4):179-85.

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. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet. 2010 May 20;6(5):e1000962.

Muhle H, von Spiczak S, Gaus V, Kara S, Helbig I, Hampe J, Franke A, Weber Y, Lerche H, Kleefuss-Lie AA, Elger CE, Schreiber S, Stephani U, Sander T. Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis. Epilepsy Res. 2010 May;89(2-3):319-26.

de Kovel CG, Pinto D, Tauer U, Lorenz S, Muhle H, Leu C, Neubauer BA, Hempelmann A, Callenbach PM, Scheffer IE, Berkovic SF, Rudolf G, Striano P, Siren A, Baykan B, Sander T, Lindhout D, Kasteleijn-Nolst Trenité DG, Stephani U, Koeleman BP. Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis. Epilepsy Res. 2010 May;89(2-3):286-94.

van Baalen A, Häusler M, Boor R, Rohr A, Sperner J, Kurlemann G, Panzer A, Stephani U, Kluger G. Febrile infection-related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood. Epilepsia. 2010 Jul;51(7):1323-8.

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. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain. 2010 Jan;133(Pt 1):23-32. * These authors contributed equally.