Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus
Schulz, Herbert, Ruppert, Ann-Kathrin, Herms, Stefan, Wolf, Christiane, Mirza-Schreiber, Nazanin, Stegle, Oliver, Czamara, Darina, Forstner, Andreas J., Sivalingam, Sugirthan, Schoch, Susanne, Moebus, Susanne, Pütz, Benno, Hillmer, Axel, Fricker, Nadine, Vatter, Hartmut, Müller-Myhsok, Bertram, Nöthen, Markus M., Becker, Albert J., Hoffmann, Per, Sander, Thomas, Cichon, Sven
Published in Nature communications (15.11.2017)
Published in Nature communications (15.11.2017)
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Journal Article
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy
Schulz, Herbert, Ruppert, Ann‐Kathrin, Zara, Federico, Madia, Francesca, Iacomino, Michele, S. Vari, Maria, Balagura, Ganna, Minetti, Carlo, Striano, Pasquale, Bianchi, Amedeo, Marini, Carla, Guerrini, Renzo, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Kapser, Claudia, Schankin, Christoph J., Kunz, Wolfram S., Møller, Rikke S., Oliver, Karen L., Bellows, Susannah T., Mullen, Saul A., Berkovic, Samuel F., Scheffer, Ingrid E., Caglayan, Hande, Ozbek, Ugur, Hoffmann, Per, Schramm, Sara, Tsortouktzidis, Despina, Becker, Albert J., Sander, Thomas
Published in Epilepsia (Copenhagen) (01.05.2019)
Published in Epilepsia (Copenhagen) (01.05.2019)
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Journal Article
Linkage Evidence for a Two-Locus Inheritance of LQT-Associated Seizures in a Multigenerational LQT Family With a Novel KCNQ1 Loss-of-Function Mutation
Prüss, Harald, Gessner, Guido, Heinemann, Stefan H, Rüschendorf, Franz, Ruppert, Ann-Kathrin, Schulz, Herbert, Sander, Thomas, Rimpau, Wilhelm
Published in Frontiers in neurology (2019)
Published in Frontiers in neurology (2019)
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Journal Article
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy
Hallmann, Kerstin, Zsurka, Gábor, Moskau-Hartmann, Susanna, Kirschner, Janbernd, Korinthenberg, Rudolf, Ruppert, Ann-Kathrin, Ozdemir, Ozkan, Weber, Yvonne, Becker, Felicitas, Lerche, Holger, Elger, Christian E, Thiele, Holger, Nürnberg, Peter, Sander, Thomas, Kunz, Wolfram S
Published in Neurology (02.12.2014)
Published in Neurology (02.12.2014)
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Journal Article
Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy
Kudin, Alexei P., Baron, Gregor, Zsurka, Gábor, Hampel, Kevin G., Elger, Christian E., Grote, Alexander, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Nürnberg, Peter, Schulz, Herbert, Ruppert, Ann-Kathrin, Sander, Thomas, Cheng, Qing, Arnér, Elias SJ, Schomburg, Lutz, Seeher, Sandra, Fradejas-Villar, Noelia, Schweizer, Ulrich, Kunz, Wolfram S.
Published in Free radical biology & medicine (01.05.2017)
Published in Free radical biology & medicine (01.05.2017)
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Alterations in the α2δ ligand, thrombospondin‐1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies
Santolini, Ines, Celli, Roberta, Cannella, Milena, Imbriglio, Tiziana, Guiducci, Michela, Parisi, Pasquale, Schubert, Julian, Iacomino, Michele, Zara, Federico, Lerche, Holger, Moyanova, Slavianka, Ngomba, Richard Teke, Luijtelaar, Gilles, Battaglia, Giuseppe, Bruno, Valeria, Striano, Pasquale, Nicoletti, Ferdinando, Palotie, Aarno, Folkhälsan, Anna‐Elina Lehesjoki, Ruppert, Ann‐Kathrin, Siren, Auli, Koeleman, Bobby, Lal, Dennis, Becker, Felicitas, Caglayan, Hande, Hjalgrim, Helle, Muhle, Hiltrud, Thiele, Holger, Helbig, Ingo, Altmuller, Janine, Jabbari, Kamel, Everett, Kate, May, Patrick, Nurnberg, Peter, Møller, Rikke, Nabbout, Rima, Krause, Roland, Balling, Rudi, Baulac, Stephanie, Sander, Thomas, Kunz, Wolfram, Weber, Yvonne, Bianchi, Amedeo, La Neve, Angela, Coppola, Antonietta, Striano, Salvatore, Capovilla, Giuseppe, Ferlazzo, Edoardo, Bagnasco, Irene, Ferretti, Alessandro, Di Bonaventura, Carlo, Vari, Maria Stella, Pinto, Francesca, Bisulli, Francesca, Tinuper, Paolo, Minetti, Carlo, Belcastro, Vincenzo, Giordano, Lucio, Gambardella, Antonio
Published in Epilepsia (Copenhagen) (01.11.2017)
Published in Epilepsia (Copenhagen) (01.11.2017)
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Journal Article
CHD2 variants are a risk factor for photosensitivity in epilepsy
Galizia, Elizabeth C, Myers, Candace T, Leu, Costin, de Kovel, Carolien G F, Afrikanova, Tatiana, Cordero-Maldonado, Maria Lorena, Martins, Teresa G, Jacmin, Maxime, Drury, Suzanne, Krishna Chinthapalli, V, Muhle, Hiltrud, Pendziwiat, Manuela, Sander, Thomas, Ruppert, Ann-Kathrin, Møller, Rikke S, Thiele, Holger, Krause, Roland, Schubert, Julian, Lehesjoki, Anna-Elina, Nürnberg, Peter, Lerche, Holger, Palotie, Aarno, Coppola, Antonietta, Striano, Salvatore, Gaudio, Luigi Del, Boustred, Christopher, Schneider, Amy L, Lench, Nicholas, Jocic-Jakubi, Bosanka, Covanis, Athanasios, Capovilla, Giuseppe, Veggiotti, Pierangelo, Piccioli, Marta, Parisi, Pasquale, Cantonetti, Laura, Sadleir, Lynette G, Mullen, Saul A, Berkovic, Samuel F, Stephani, Ulrich, Helbig, Ingo, Crawford, Alexander D, Esguerra, Camila V, Kasteleijn-Nolst Trenité, Dorothee G A, Koeleman, Bobby P C, Mefford, Heather C, Scheffer, Ingrid E, Sisodiya, Sanjay M
Published in Brain (London, England : 1878) (01.05.2015)
Published in Brain (London, England : 1878) (01.05.2015)
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Journal Article
Rare coding variants in genes encoding GABA A receptors in genetic generalised epilepsies: an exome-based case-control study
May, Patrick, Girard, Simon, Harrer, Merle, Bobbili, Dheeraj R, Schubert, Julian, Wolking, Stefan, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E, Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-López, Rosa, Baulac, Stéphanie, Marini, Carla, Thiele, Holger, Altmüller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestèle, Sandrine, Terragni, Benedetta, Coombs, Ian D, Reid, Christopher A, Striano, Pasquale, Caglayan, Hande, Siren, Auli, Everett, Kate, Møller, Rikke S, Hjalgrim, Helle, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S, Weber, Yvonne G, Weckhuysen, Sarah, Jonghe, Peter De, Sisodiya, Sanjay M, Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S, Kasteleijn-Nolst Trenité, Dorothée, Baykan, Betul, Ozbek, Ugur, Bebek, Nerses, Klein, Karl M, Rosenow, Felix, Nguyen, Dang K, Dubeau, François, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clément, Jean-François, Cieuta-Walti, Cécile, Sills, Graeme J, Auce, Pauls, Francis, Ben, Johnson, Michael R, Marson, Anthony G, Berghuis, Bianca, Sander, Josemir W, Avbersek, Andreja, McCormack, Mark, Cavalleri, Gianpiero L, Delanty, Norman, Depondt, Chantal, Krenn, Martin, Zimprich, Fritz, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi, Ikram, M Arfan, Uitterlinden, André G, Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven, Mantegazza, Massimo, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M, Koeleman, Bobby P C, Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael, Nürnberg, Peter, Maljevic, Snezana, Zara, Federico, Cossette, Patrick, Krause, Roland, Lerche, Holger
Published in Lancet neurology (01.08.2018)
Published in Lancet neurology (01.08.2018)
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Journal Article
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies
Lal, Dennis, Ruppert, Ann-Kathrin, Trucks, Holger, Schulz, Herbert, de Kovel, Carolien G, Kasteleijn-Nolst Trenité, Dorothée, Sonsma, Anja C M, Koeleman, Bobby P, Lindhout, Dick, Weber, Yvonne G, Lerche, Holger, Kapser, Claudia, Schankin, Christoph J, Kunz, Wolfram S, Surges, Rainer, Elger, Christian E, Gaus, Verena, Schmitz, Bettina, Helbig, Ingo, Muhle, Hiltrud, Stephani, Ulrich, Klein, Karl M, Rosenow, Felix, Neubauer, Bernd A, Reinthaler, Eva M, Zimprich, Fritz, Feucht, Martha, Møller, Rikke S, Hjalgrim, Helle, De Jonghe, Peter, Suls, Arvid, Lieb, Wolfgang, Franke, Andre, Strauch, Konstantin, Gieger, Christian, Schurmann, Claudia, Schminke, Ulf, Nürnberg, Peter, Sander, Thomas
Published in PLoS genetics (01.05.2015)
Published in PLoS genetics (01.05.2015)
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Journal Article
mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data
Celli, Roberta, Striano, Pasquale, Citraro, Rita, Di Menna, Luisa, Cannella, Milena, Imbriglio, Tiziana, Koko, Mahmoud, Euro Epinomics-Cogie Consortium, De Sarro, Giovambattista, Monn, James A, Battaglia, Giuseppe, Luijtelaar, Gilles Van, Nicoletti, Ferdinando, Russo, Emilio, Leo, Antonio
Published in Current neuropharmacology (2023)
Published in Current neuropharmacology (2023)
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Journal Article
No evidence for a BRD 2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy
Schulz, Herbert, Ruppert, Ann‐Kathrin, Zara, Federico, Madia, Francesca, Iacomino, Michele, S. Vari, Maria, Balagura, Ganna, Minetti, Carlo, Striano, Pasquale, Bianchi, Amedeo, Marini, Carla, Guerrini, Renzo, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Kapser, Claudia, Schankin, Christoph J., Kunz, Wolfram S., Møller, Rikke S., Oliver, Karen L., Bellows, Susannah T., Mullen, Saul A., Berkovic, Samuel F., Scheffer, Ingrid E., Caglayan, Hande, Ozbek, Ugur, Hoffmann, Per, Schramm, Sara, Tsortouktzidis, Despina, Becker, Albert J., Sander, Thomas
Published in Epilepsia (Copenhagen) (01.05.2019)
Published in Epilepsia (Copenhagen) (01.05.2019)
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Journal Article
Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies: e1005226
Lal, Dennis, Ruppert, Ann-Kathrin, Trucks, Holger, Schulz, Herbert, Kovel, Carolien Gde, Trenité, Dorothée Kasteleijn-Nolst, Sonsma, Anja CM, Koeleman, Bobby P, Lindhout, Dick, Weber, Yvonne G, Lerche, Holger, Kapser, Claudia, Schankin, Christoph J, Kunz, Wolfram S, Surges, Rainer, Elger, Christian E, Gaus, Verena, Schmitz, Bettina, Helbig, Ingo, Muhle, Hiltrud, Stephani, Ulrich, Klein, Karl M, Rosenow, Felix, Neubauer, Bernd A, Reinthaler, Eva M, Zimprich, Fritz, Feucht, Martha, Møller, Rikke S, Hjalgrim, Helle, Jonghe, Peter De, Suls, Arvid, Lieb, Wolfgang, Franke, Andre, Strauch, Konstantin, Gieger, Christian, Schurmann, Claudia, Schminke, Ulf, Nürnberg, Peter, Sander, Thomas, Consortium, EPICURE
Published in PLoS genetics (01.05.2015)
Published in PLoS genetics (01.05.2015)
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