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Your search keyword '"Hannelore Steinböck"' showing total 3 results
Start Over Author "Hannelore Steinböck" Topic medicine.disease
3 results on '"Hannelore Steinböck"'

1. Analysis ofELP4,SRPX2, and interacting genes in typical and atypical rolandic epilepsy

Author

Peter Nürnberg, Edda Haberlandt, Hannelore Steinböck, Gabriel M. Ronen, Holger Thiele, Holger Lerche, Birgit Neophytou, Eva M. Reinthaler, Wiktor Jurkowski, Dennis Lal, Mohammad R. Toliat, Julia Geldner, Ursula Gruber-Sedlmayr, Thomas Sander, Andreas Hahn, Janine Altmüller, Bernd A. Neubauer, Fritz Zimprich, and Martha Feucht

Subjects
Male, Canada, Nerve Tissue Proteins, Single-nucleotide polymorphism, Biology, medicine.disease_cause, Bioinformatics, Polymorphism, Single Nucleotide, Polymorphism (computer science), Germany, Genetic variation, medicine, Humans, SNP, Child, Genotyping, Gene, Genetics, Mutation, Genetic Variation, Membrane Proteins, medicine.disease, Epilepsy, Rolandic, Neoplasm Proteins, Rolandic epilepsy, Neurology, Austria, Female, Neurology (clinical)
Abstract

Rolandic epilepsy (RE) and its atypical variants (atypical rolandic epilepsy, ARE) along the spectrum of epilepsy-aphasia disorders are characterized by a strong but largely unknown genetic basis. Two genes with a putative (ELP4) or a proven (SRPX2) function in neuronal migration were postulated to confer susceptibility to parts of the disease spectrum: the ELP4 gene to centrotemporal spikes and SRPX2 to ARE. To reexamine these findings, we investigated a cohort of 280 patients of European ancestry with RE/ARE for the etiological contribution of these genes and their close interaction partners. We performed next-generation sequencing and single-nucleotide polymorphism (SNP)-array based genotyping to screen for sequence and structural variants. In comparison to European controls we could not detect an enrichment of rare deleterious variants of ELP4, SRPX2, or their interaction partners in affected individuals. The previously described functional p.N327S variant in the X chromosomal SRPX2 gene was detected in two affected individuals (0.81%) and also in controls (0.26%), with some preponderance of male patients. We did not detect an association of SNPs in the ELP4 gene with centrotemporal spikes as previously reported. In conclusion our data do not support a major role of ELP4 and SRPX2 in the etiology of RE/ARE.

Published
2014
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2. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Author

Eva M. Reinthaler, Dennis Lal, Sebastien Lebon, Michael S. Hildebrand, Hans-Henrik M. Dahl, Brigid M. Regan, Martha Feucht, Hannelore Steinböck, Birgit Neophytou, Gabriel M. Ronen, Laurian Roche, Ursula Gruber-Sedlmayr, Julia Geldner, Edda Haberlandt, Per Hoffmann, Stefan Herms, Christian Gieger, Melanie Waldenberger, Andre Franke, Michael Wittig, Susanne Schoch, Albert J. Becker, Andreas Hahn, Katrin Männik, Mohammad R. Toliat, Georg Winterer, Holger Lerche, Peter Nürnberg, Heather Mefford, Ingrid E. Scheffer, Samuel F. Berkovic, Jacques S. Beckmann, Thomas Sander, Sebastien Jacquemont, Alexandre Reymond, Fritz Zimprich, Bernd A. Neubauer, Bernd Neubauer, Martina Mörzinger, Arvid Suls, Sarah Weckhuysen, Lieve Claes, Liesbet Deprez, Katrien Smets, Tine Van Dyck, Tine Deconinck, Peter De Jonghe, Rikke S Møller, Laura L. Klitten, Helle Hjalgrim, Kiel Campus, Ingo Helbig, Hiltrud Muhle, Philipp Ostertag, Sarah von Spiczak, Ulrich Stephani, Holger Trucks, Christian E. Elger, Ailing A. Kleefuß-Lie, Wolfram S. Kunz, Rainer Surges, Verena Gaus, Dieter Janz, Bettina Schmitz, Felix Rosenow, Karl Martin Klein, Philipp S. Reif, Wolfgang H. Oertel, Hajo M. Hamer, Felicitas Becker, Yvonne Weber, Bobby P.C. Koeleman, Carolien de Kovel, Dick Lindhout, Agnès Ameil, Joris Andrieux, Sonia Bouquillon, Odile Boute, Jeanne de Flandre, Jean Marie Cuisset, Jean-Christophe Cuvellier, Roger Salengro, Albert David, Bert de Vries, Marie-Ange Delrue, Martine Doco-Fenzy, Bridget A. Fernandez, Delphine Heron, Boris Keren, Robert Lebel, Bruno Leheup, Suzanne Lewis, Maria Antonietta Mencarelli, Cyril Mignot, Jean-Claude Minet, Alexandre Moerman, Fanny Morice-Picard, Mafalda Mucciolo, Katrin Ounap, Laurent Pasquier, Florence Petit, Francesca Ragona, Evica Rajcan-Separovic, Alessandra Renieri, Claudine Rieubland, Damien Sanlaville, Elisabeth Sarrazin, Yiping Shen, Mieke van Haelst, Anneke Vulto-van Silfhout, 16p11.2 European Consortium, EPICURE Consortium, EuroEPINOMICS Consortium, Reinthaler, EM., Zimprich, F., Feucht, M., Steinböck, H., Neophytou, B., Geldner, J., Gruber-Sedlmayr, U., Haberlandt, E., Ronen, GM., Roche, L., Lal, D., Nürnberg, P., Sander, T., Lerche, H., Neubauer, B., Mörzinger, M., Suls, A., Weckhuysen, S., Claes, L., Deprez, L., Smets, K., Van Dyck, T., Deconinck, T., De Jonghe, P., Møller, RS., Klitten, LL., Hjalgrim, H., Campus, K., Helbig, I., Muhle, H., Ostertag, P., von Spiczak, S., Stephani, U., Trucks, H., Elger, CE., Kleefuß-Lie, AA., Kunz, WS., Surges, R., Gaus, V., Janz, D., Schmitz, B., Rosenow, F., Klein, KM., Reif, PS., Oertel, WH., Hamer, HM., Becker, F., Weber, Y., Koeleman, BP., de Kovel, C., Lindhout, D., Ameil, A., Andrieux, J., Bouquillon, S., Boute, O., Cordier, MP., Cuisset, JM., Cuvellier, JC., David, A., de Vries, B., Delrue, MA., Doco-Fenzy, M., Fernandez, BA., Heron, D., Keren, B., Lebel, R., Leheup, B., Lewis, S., Mencarelli, MA., Mignot, C., Minet, JC., Moerman, A., Morice-Picard, F., Mucciolo, M., Ounap, K., Pasquier, L., Petit, F., Ragona, F., Rajcan-Separovic, E., Renieri, A., Rieubland, C., Sanlaville, D., Sarrazin, E., Shen, Y., van Haelst, M., Vulto-van Silfhout, A., and Other departments

Subjects
Male, DNA Copy Number Variations, Chromosomes, Human, Pair 22, 610 Medicine & health, Locus (genetics), Biology, Polymorphism, Single Nucleotide, Temporal lobe, Epilepsy, Gene duplication, Chromosome Duplication, Genetics, medicine, Humans, Copy-number variation, Child, Molecular Biology, Genetics (clinical), Chromosomes, Human, Pair 15, Infant, General Medicine, Odds ratio, medicine.disease, Epilepsy, Rolandic, Rolandic epilepsy, Exact test, Chromosomes, Human, Pair 1, Child, Preschool, Female, Chromosomes, Human, Pair 16
Abstract

Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 previously associated with neurodevelopmental disorders also increase risk of RE. Our association analyses revealed a significant excess of the 600 kb genomic duplication at the 16p11.2 locus (chr16: 29.5-30.1 Mb) in 393 unrelated patients with typical (n = 339) and atypical (ARE; n = 54) RE compared with the prevalence in 65,046 European population controls (5/393 cases versus 32/65,046 controls; Fisher's exact test P = 2.83 × 10(-6), odds ratio = 26.2, 95% confidence interval: 7.9-68.2). In contrast, the 16p11.2 duplication was not detected in 1738 European epilepsy patients with either temporal lobe epilepsy (n = 330) and genetic generalized epilepsies (n = 1408), suggesting a selective enrichment of the 16p11.2 duplication in idiopathic focal childhood epilepsies (Fisher's exact test P = 2.1 × 10(-4)). In a subsequent screen among children carrying the 16p11.2 600 kb rearrangement we identified three patients with RE-spectrum epilepsies in 117 duplication carriers (2.6%) but none in 202 carriers of the reciprocal deletion. Our results suggest that the 16p11.2 duplication represents a significant genetic risk factor for typical and atypical RE.

Published
2014
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3. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Author

Saskia Biskup, Jürgen Sperner, Stefan Herms, Anna-Elina Lehesjoki, Per Hoffmann, Markus Wolff, Rikke S. Møller, Hannelore Steinböck, José M. Serratosa, Peter De Jonghe, Ingo Helbig, Michael Alber, Markus Schilhabel, Laura Addis, Sarah E. Buerki, Gabriele Wohlrab, Birgit Neophythou, Johanna A. Jähn, Michael Nothnagel, Ulvi Vaher, D Edda Haberlandt, Ursula Gruber-Sedlmayr, Johannes R. Lemke, Yvonne G. Weber, Judith Kroell, Ulrich Stephani, Kadi Veri, Shan Tang, Natalio Fejerman, Gerhard Kluger, Jan Larsen, Susanne Ruf, Deb K. Pal, Sarah von Spiczak, Kirsten Geider, Bodo Laube, Gerhard Kurlemann, Martha Feucht, Dennis Lal, Bernd A. Neubauer, Robert J. Harvey, Tiina Talvik, Elaine Hughes, Tarja Linnankivi, Katrin Finsterwalder, Fritz Zimprich, Rainer Boor, Christina Kutzer, Petia Dimova, Andreas Hahn, Janine Altmüller, Christian Wilhelm, Barbara Fiedler, Felicitas Becker, Andre Franke, Helle Hjalgrim, Sarah Weckhuysen, Michael Schwake, Isabelle Steiner, Alexandre N. Datta, Gabriel M. Ronen, Rosa Guerrero López, Hiltrud Muhle, Mohammad R. Toliat, Holger Lerche, Eva M. Reinthaler, Peter Nürnberg, Roberto Caraballo, Holger Thiele, Wim Van Paesschen, Julia Geldner, University of Zurich, and von Spiczak, Sarah

Subjects
Male, Models, Molecular, medicine.medical_specialty, Protein Conformation, Mutation, Missense, 610 Medicine & health, Status epilepticus, medicine.disease_cause, Receptors, N-Methyl-D-Aspartate, Gastroenterology, diagnosis [Epilepsies, Partial], 03 medical and health sciences, Epilepsy, genetics [Epilepsies, Partial], 0302 clinical medicine, Nr2a subunit, 1311 Genetics, ddc:570, Internal medicine, genetics [Receptors, N-Methyl-D-Aspartate], Genetics, medicine, Humans, Missense mutation, chemistry [Receptors, N-Methyl-D-Aspartate], metabolism [Receptors, N-Methyl-D-Aspartate], 030304 developmental biology, 0303 health sciences, Mutation, biology, N-methyl D-aspartate receptor subtype 2A, medicine.disease, Pedigree, 3. Good health, Rolandic epilepsy, Exact test, Amino Acid Substitution, 10036 Medical Clinic, biology.protein, GRIN2A, Female, Human medicine, Epilepsies, Partial, medicine.symptom, 030217 neurology & neurosurgery
Abstract

Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy, comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with centrotemporal spikes, BECTS) to atypical benign partial epilepsy (ABPE), Landau-Kleffner syndrome (LKS) and epileptic encephalopathy with continuous spike and waves during slow-wave sleep (CSWS)(1,2). The genetic basis is largely unknown. We detected new heterozygous mutations in GRIN2A in 27 of 359 affected individuals from 2 independent cohorts with IFE (7.5%; P = 4.83 x 10(-18), Fisher's exact test). Mutations occurred significantly more frequently in the more severe phenotypes, with mutation detection rates ranging from 12/245 (4.9%) in individuals with BECTS to 9/51 (17.6%) in individuals with CSWS (P = 0.009, Cochran-Armitage test for trend). In addition, exon-disrupting microdeletions were found in 3 of 286 individuals (1.0%; P = 0.004, Fisher's exact test). These results establish alterations of the gene encoding the NMDA receptor NR2A subunit as a major genetic risk factor for IFE.

Published
2013
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