Browse by ORCID - Kölner UniversitätsPublikationsServer

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Number of items: 7.

Syrbe, Steffen, Hedrich, Ulrike B. S., Riesch, Erik, Djemie, Tania, Mueller, Stephan, Moller, Rikke S., Maher, Bridget ORCID: 0000-0002-9735-0845, Hernandez-Hernandez, Laura, Synofzik, Matthis ORCID: 0000-0002-2280-7273, Caglayan, Hande S., Arslan, Mutluay, Serratosa, Jose M., Nothnagel, Michael ORCID: 0000-0001-8305-7114, May, Patrick ORCID: 0000-0001-8698-3770, Krause, Roland ORCID: 0000-0001-9938-7126, Loeffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Kraemer, Guenter, Schoels, Ludger, Mullis, Primus E., Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C., Hoffman-Zacharska, Dorota ORCID: 0000-0001-7367-512X, Korff, Christian M., Weber, Yvonne G., Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid ORCID: 0000-0003-2832-0156, Bernhard, Matthias K., Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Zuechner, Stephan, Palotie, Aarno, Suls, Arvid ORCID: 0000-0003-0328-198X, De Jonghe, Peter, Helbig, Ingo ORCID: 0000-0001-8486-0558, Biskup, Saskia, Wolff, Markus ORCID: 0000-0001-5640-0888, Maljevic, Snezana ORCID: 0000-0003-1876-5872, Schule, Rebecca ORCID: 0000-0002-7781-2766, Sisodiya, Sanjay M., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Lerche, Holger and Lemke, Johannes R. (2015). De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nature Genet., 47 (4). S. 393 - 402. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Hardies, Katia, de Kovel, Carolien G. F., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Asselbergh, Bob ORCID: 0000-0003-2784-2470, Geuens, Thomas ORCID: 0000-0002-1764-6233, Deconinck, Tine, Azmi, Abdelkrim, May, Patrick ORCID: 0000-0001-8698-3770, Brilstra, Eva, Becker, Felicitas, Barisic, Nina, Craiu, Dana, Braun, Kees P. J., Lal, Dennis, Thiele, Holger, Schubert, Julian, Weber, Yvonne, van't Slot, Ruben, Nuernberg, Peter, Balling, Rudi ORCID: 0000-0003-2902-5650, Timmerman, Vincent ORCID: 0000-0002-2162-0933, Lerche, Holger, Maudsley, Stuart, Helbig, Ingo ORCID: 0000-0001-8486-0558, Suls, Arvid ORCID: 0000-0003-0328-198X, Koeleman, Bobby P. C. and De Jonghe, Peter (2015). Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain, 138. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Dejanovic, Borislav, Djemie, Tania, Gruenewald, Nora, Suls, Arvid ORCID: 0000-0003-0328-198X, Kress, Vanessa, Hetsch, Florian, Craiu, Dana, Zemel, Matthew, Gormley, Padhraig ORCID: 0000-0002-8908-6968, Lal, Dennis, Myers, Candace T., Mefford, Heather C., Palotie, Aarno, Helbig, Ingo ORCID: 0000-0001-8486-0558, Meier, Jochen C., De Jonghe, Peter, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147 and Schwarz, Guenter ORCID: 0000-0002-2118-9338 (2015). Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy. EMBO Mol. Med., 7 (12). S. 1580 - 1595. HOBOKEN: WILEY. ISSN 1757-4684

Schubert, Julian, Siekierska, Aleksandra ORCID: 0000-0003-4907-605X, Langlois, Melanie, May, Patrick ORCID: 0000-0001-8698-3770, Huneau, Clement, Becker, Felicitas, Muhle, Hiltrud, Suls, Arvid ORCID: 0000-0003-0328-198X, Lemke, Johannes R., de Kovel, Carolien G. F., Thiele, Holger, Konrad, Kathryn, Kawalia, Amit, Toliat, Mohammad R., Sander, Thomas, Rueschendorf, Franz, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Nagel, Inga, Kohl, Bernard, Kecskes, Angela, Jacmin, Maxime, Hardies, Katia, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Riesch, Erik, Dorn, Thomas, Brilstra, Eva H., Baulac, Stephanie ORCID: 0000-0001-6430-4693, Moller, Rikke S., Hjalgrim, Helle, Koeleman, Bobby P. C., Jurkat-Rott, Karin, Lehman-Horn, Frank, Roach, Jared C., Glusman, Gustavo ORCID: 0000-0001-8060-5955, Hood, Leroy, Galas, David J., Martin, Benoit, de Witte, Peter A. M., Biskup, Saskia, De Jonghe, Peter, Helbig, Ingo ORCID: 0000-0001-8486-0558, Balling, Rudi ORCID: 0000-0003-2902-5650, Nuernberg, Peter, Crawford, Alexander D., Esguerra, Camila V., Weber, Yvonne G. and Lerche, Holger (2014). Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nature Genet., 46 (12). S. 1327 - 1333. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Steffens, Michael ORCID: 0000-0002-6445-8593, Leu, Costin ORCID: 0000-0003-0598-3301, Ruppert, Ann-Kathrin, Zara, Federico ORCID: 0000-0001-9744-5222, Striano, Pasquale ORCID: 0000-0002-6065-1476, Robbiano, Angela, Capovilla, Giuseppe, Tinuper, Paolo, Gambardella, Antonio ORCID: 0000-0001-7384-3074, Bianchi, Amedeo, La Neve, Angela, Crichiutti, Giovanni, de Kovel, Carolien G. F., Trenite, Dorothee Kasteleijn-Nolst, de Haan, Gerrit-Jan ORCID: 0000-0003-2373-9863, Lindhout, Dick ORCID: 0000-0001-9580-624X, Gaus, Verena, Schmitz, Bettina, Janz, Dieter, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Steinhoff, Bernhard J., Kleefuss-Lie, Ailing A., Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Surges, Rainer ORCID: 0000-0002-3177-8582, Elger, Christian E., Muhle, Hiltrud, von Spiczak, Sarah, Ostertag, Philipp, Helbig, Ingo ORCID: 0000-0001-8486-0558, Stephani, Ulrich, Moller, Rikke S., Hjalgrim, Helle, Dibbens, Leanne M., Bellows, Susannah ORCID: 0000-0003-1949-8489, Oliver, Karen, Mullen, Saul, Scheffer, Ingrid E., Berkovic, Samuel F., Everett, Kate V., Gardiner, Mark R., Marini, Carla, Guerrini, Renzo ORCID: 0000-0002-7272-7079, Lehesjoki, Anna-Elina, Siren, Auli, Guipponi, Michel, Malafosse, Alain, Thomas, Pierre, Nabbout, Rima, Baulac, Stephanie ORCID: 0000-0001-6430-4693, Leguern, Eric, Guerrero, Rosa ORCID: 0000-0002-4138-4667, Serratosa, Jose M., Reif, Philipp S., Rosenow, Felix, Moerzinger, Martina, Feucht, Martha, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Kapser, Claudia, Schankin, Christoph J., Suls, Arvid ORCID: 0000-0003-0328-198X, Smets, Katrin, De Jonghe, Peter, Jordanova, Albena ORCID: 0000-0002-3833-3754, Caglayan, Hande, Yapici, Zuhal, Yalcin, Destina A., Baykan, Betul, Bebek, Nerses, Ozbek, Ugur ORCID: 0000-0001-5319-0547, Gieger, Christian ORCID: 0000-0001-6986-9554, Wichmann, Heinz-Erich, Balschun, Tobias, Ellinghaus, David ORCID: 0000-0002-4332-6110, Franke, Andre ORCID: 0000-0003-1530-5811, Meesters, Christian ORCID: 0000-0003-2408-7588, Becker, Tim, Wienker, Thomas F., Hempelmann, Anne, Schulz, Herbert, Rueschendorf, Franz, Leber, Markus, Pauck, Steffen M., Trucks, Holger, Toliat, Mohammad R., Nuernberg, Peter, Avanzini, Giuliano, Koeleman, Bobby P. C. and Sander, Thomas (2012). Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum. Mol. Genet., 21 (24). S. 5359 - 5373. OXFORD: OXFORD UNIV PRESS. ISSN 0964-6906

Muhle, Hiltrud, Steinich, Ines, von Spiczak, Sarah, Franke, Andre ORCID: 0000-0003-1530-5811, Weber, Yvonne, Lerche, Holger, Wittig, Michael, Heidemann, Simone, Suls, Arvid ORCID: 0000-0003-0328-198X, de Jonghe, Peter, Marini, Carla, Guerrini, Renzo ORCID: 0000-0002-7272-7079, Scheffer, Ingrid E., Berkovic, Samuel F., Stephani, Ulrich, Siebert, Reiner, Sander, Thomas, Helbig, Ingo ORCID: 0000-0001-8486-0558 and Toennies, Holger (2010). A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy. Epilepsia, 51 (12). S. 2453 - 2457. MALDEN: WILEY-BLACKWELL PUBLISHING, INC. ISSN 0013-9580

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