Universität zu Köln

Journal Article

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

Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schutz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline ORCID: 0000-0003-1272-0518, Heron, Delphine, Moller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nurnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik ORCID: 0000-0002-8387-2247, Stromme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J. V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh ORCID: 0000-0002-0658-3847, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle ORCID: 0000-0001-7310-6082, Richholt, Ryan, Koeleman, Bobby P. C., Sa, Joaquim, Mendonca, Carla ORCID: 0000-0001-9926-0598, de Kovel, Carolien G. F., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine ORCID: 0000-0001-9024-310X, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amelie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo ORCID: 0000-0001-8486-0558, Michaud, Jacques L., Laube, Bodo and Syrbe, Steffen (2016). Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology, 86 (23). S. 2171 - 2179. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

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

Wolff, Markus ORCID: 0000-0001-5640-0888, Johannesen, Katrine M., Hedrich, Ulrike B. S., Masnada, Silvia ORCID: 0000-0003-3850-8849, Rubboli, Guido ORCID: 0000-0002-5309-2514, Gardella, Elena ORCID: 0000-0002-7138-6022, Lesca, Gaetan ORCID: 0000-0001-7691-9492, Ville, Dorothee, Milh, Mathieu, Villard, Laurent ORCID: 0000-0001-6657-5008, Afenjar, Alexandra, Chantot-Bastaraud, Sandra, Mignot, Cyril, Lardennois, Caroline, Nava, Caroline ORCID: 0000-0003-1272-0518, Schwarz, Niklas, Gerard, Marion, Perrin, Laurence, Doummar, Diane, Auvin, Stephane, Miranda, Maria J., Hempel, Maja, Brilstra, Eva, Knoers, Nine, Verbeek, Nienke, van Kempen, Marjan, Braun, Kees P., Mancini, Grazia, Biskup, Saskia, Hoertnagel, Konstanze, Doecker, Miriam, Bast, Thomas, Loddenkemper, Tobias ORCID: 0000-0003-2074-0674, Wong-Kisiel, Lily, Baumeister, Friedrich M., Fazeli, Walid, Striano, Pasquale ORCID: 0000-0002-6065-1476, Dilena, Robertino ORCID: 0000-0003-1064-1840, Fontana, Elena ORCID: 0000-0002-4553-2452, Zara, Federico ORCID: 0000-0001-9744-5222, Kurlemann, Gerhard, Klepper, Joerg, Thoene, Jess G., Arndt, Daniel H., Deconinck, Nicolas, Schmitt-Mechelke, Thomas, Maier, Oliver, Muhle, Hiltrud, Wical, Beverly, Finetti, Claudio, Brueckner, Reinhard, Pietz, Joachim, Golla, Guenther, Jillella, Dinesh ORCID: 0000-0002-5399-0170, Linnet, Karen M., Charles, Perrine, Moog, Ute, Oiglane-Shlik, Eve, Mantovani, John F., Park, Kristen, Deprez, Marie, Lederer, Damien, Mary, Sandrine, Scalais, Emmanuel, Selim, Laila, Van Coster, Rudy, Lagae, Lieven, Nikanorova, Marina, Hjalgrim, Helle, Korenke, G. Christoph, Trivisano, Marina, Specchio, Nicola, Ceulemans, Berten, Dorn, Thomas, Helbig, Katherine L., Hardies, Katia, Stamberger, Hannah, de Jonghe, Peter, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Lemke, Johannes R., Kraegeloh-Mann, Ingeborg, Helbig, Ingo ORCID: 0000-0001-8486-0558, Kluger, Gerhard, Lerche, Holger and Moller, Rikke S. (2017). Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain, 140. S. 1316 - 1337. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156