Universität zu Köln

Journal Article

Bamborschke, Daniel, Pergande, Matthias, Daimagueler, Huelya Sevcan, Mangold, Elisabeth, Doetsch, Joerg, Herkenrath, Peter, Cirak, Sebahattin and Fazeli, Walid (2019). Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy. Neuropediatrics, 50 (6). S. 378 - 382. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-1899

Doering, Jan Henje, Saffari, Afshin, Bast, Thomas, Brockmann, Knut ORCID: 0000-0001-6823-9091, Ehrhardt, Laura, Fazeli, Walid ORCID: 0000-0002-9425-5535, Janzarik, Wibke G., Kluger, Gerhard, Muhle, Hiltrud, Moller, Rikke S., Platzer, Konrad, Santos, Joana Larupa, Bache, Iben ORCID: 0000-0001-7562-8546, Bertsche, Astrid, Bonfert, Michaela, Borggraefe, Ingo, Broser, Philip J., Datta, Alexandre N., Hammer, Trine Bjorg, Hartmann, Hans, Hasse-Wittmer, Anette, Henneke, Marco, Kuehne, Hermann, Lemke, Johannes R., Maier, Oliver, Matzker, Eva, Merkenschlager, Andreas, Opp, Joachim, Patzer, Steffi, Rostasy, Kevin, Stark, Birgit, Strzelczyk, Adam, von Stuelpnagel, Celina, Weber, Yvonne, Wolff, Markus, Zirn, Birgit, Hoffmann, Georg Friedrich, Koelker, Stefan and Syrbe, Steffen (2020). The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood. Biomedicines, 8 (11). BASEL: MDPI. ISSN 2227-9059

Doring, Jan H., Saffari, Afshin, Bast, Thomas, Brockmann, Knut, Ehrhardt, Laura, Fazeli, Walid, Janzarik, Wibke G., Klabunde-Cherwon, Annick, Kluger, Gerhard, Muhle, Hiltrud, Pendziwiat, Manuela, Moller, Rikke S. ORCID: 0000-0002-9664-1448, Platzer, Konrad, Santos, Joana Larupa, Schroter, Julian, Hoffmann, Georg F., Kolker, Stefan and Syrbe, Steffen (2022). Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy. Neurol.-Genet., 8 (5). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 2376-7839

Fazeli, Walid, Bamborschke, Daniel, Moawia, Abubakar, Bakhtiari, Somayeh, Tafakhori, Abbas, Giersdorf, Matthias, Hahn, Andreas, Weik, Anja, Kolzter, Kirsten, Shafiee, Sajad, Jin, Sheng Chih ORCID: 0000-0002-5777-7262, Koerber, Friederike, Lee-Kirsch, Min Ae, Darvish, Hossein, Cirak, Sebahattin, Kruer, Michael C. and Koy, Anne (2022). The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature. Eur. J. Paediatr. Neurol., 36. S. 7 - 14. OXFORD: ELSEVIER SCI LTD. ISSN 1532-2130

Fazeli, Walid, Becker, Kerstin, Herkenrath, Peter, Duechting, Christoph, Koerber, Friederike, Landgraf, Pablo, Nuernberg, Peter, Altmueller, Janine, Thiele, Holger, Koy, Anne, Liebau, Max C., Simon, Thorsten, Doetsch, Joerg and Cirak, Sebahattin (2018). Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. Neuropediatrics, 49 (6). S. 379 - 385. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-1899

Fazeli, Walid, Herkenrath, Peter, Stiller, Barbara, Neugebauer, Antje, Fricke, Julia, Lang-Roth, Ruth, Nuernberg, Gudrun, Thoenes, Michaela, Becker, Jutta, Altmueller, Janine, Volk, Alexander E., Kubisch, Christian ORCID: 0000-0003-4220-0978 and Heller, Raoul (2017). A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction. Hum. Mol. Genet., 26 (20). S. 4055 - 4067. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Fazeli, Walid, Zappettini, Stefania ORCID: 0000-0002-1238-9573, Marguet, Stephan Lawrence, Grendel, Jasper, Esclapez, Monique ORCID: 0000-0002-8558-1363, Bernard, Christophe and Isbrandt, Dirk (2017). Early-life exposure to caffeine affects the construction and activity of cortical networks in mice. Exp. Neurol., 295. S. 88 - 104. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1090-2430

Johannesen, Katrine M., Iqbal, Sumaiya, Guazzi, Milena, Mohammadi, Nazanin A., Perez-Palma, Eduardo, Schaefer, Elise, De Saint Martin, Anne, Abiwarde, Marie Therese, McTague, Amy, Pons, Roser, Piton, Amelie, Kurian, Manju A., Ambegaonkar, Gautam, Firth, Helen, Sanchis-Juan, Alba, Deprez, Marie, Jansen, Katrien, De Waele, Liesbeth, Briltra, Eva H., Verbeek, Nienke E., van Kempen, Marjan, Fazeli, Walid, Striano, Pasquale, Zara, Federico, Visser, Gerhard, Braakman, Hilde M. H., Haeusler, Martin, Elbracht, Miriam, Vaher, Ulvi, Smol, Thomas ORCID: 0000-0002-0119-5896, Lemke, Johannes R., Platzer, Konrad, Kennedy, Joanna, Klein, Karl Martin ORCID: 0000-0002-6654-1665, Au, Ping Yee Billie, Smyth, Kimberly, Kaplan, Julie, Thomas, Morgan, Dewenter, Malin K., Dinopoulos, Argirios, Campbell, Arthur J., Lal, Dennis, Lederer, Damien, Liao, Vivian W. Y., Ahring, Philip K., Moller, Rikke S. ORCID: 0000-0002-9664-1448 and Gardella, Elena (2022). Structural mapping of GABRB3 variants reveals genotype-phenotype correlations. Genet. Med., 24 (3). S. 681 - 694. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1530-0366

Johannesen, Katrine M., Liu, Yuanyuan, Koko, Mahmoud ORCID: 0000-0001-9512-0184, Gjerulfsen, Cathrine E., Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed ORCID: 0000-0001-9067-5017, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krueger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthova, Petra, Vlckova, Marketa, Lemke, Johannes R., Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin ORCID: 0000-0002-6654-1665, Au, P. Y. Billie, Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico ORCID: 0000-0001-9744-5222, Verhelst, Helene, Verhoeven, Judith S., Braakman, Hilde M. H., van der Zwaag, Bert, Harder, Aster V. E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Christensen, Jakob ORCID: 0000-0002-9385-6435, Gronborg, Sabine, Scherer, Stephen W. ORCID: 0000-0002-8326-1999, Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Benedicte, Matricardi, Sara ORCID: 0000-0002-4403-6342, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vollo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gelisse, Philippe, Marini, Carla, Guerrini, Renzo ORCID: 0000-0002-7272-7079, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena ORCID: 0000-0001-5602-2805, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Muller-Schluter, Karen, Bassan, Haim ORCID: 0000-0003-1627-8069, Borovikov, Artem ORCID: 0000-0001-5871-8005, Nassogne, Marie-Cecile, Destree, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna ORCID: 0000-0002-3835-2824, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen-Hann ORCID: 0000-0002-1593-6149, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brunger, Tobias, May, Patrick ORCID: 0000-0001-8698-3770, Lal, Dennis, Lederer, Damien, Rubboli, Guido ORCID: 0000-0002-5309-2514, Heyne, Henrike O., Lesca, Gaetan ORCID: 0000-0001-7691-9492, Hedrich, Ulrike B. S., Benda, Jan, Gardella, Elena, Lerche, Holger and Moller, Rikke S. ORCID: 0000-0002-9664-1448 . Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Li, Xia, Poschmann, Sibylle, Chen, Qiuyun, Fazeli, Walid, Oundjian, Nelly Jouayed, Snoeijen-Schouwenaars, Francesca M., Fricke, Oliver, Kamsteeg, Erik-Jan, Willemsen, Marjolein and Wang, Qing Kenneth (2018). De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity. Eur. J. Hum. Genet., 26 (2). S. 220 - 230. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Schattling, Benjamin, Fazeli, Walid, Engeland, Birgit, Liu, Yuanyuan, Lerche, Holger, Isbrandt, Dirk and Friese, Manuel A. ORCID: 0000-0001-6380-2420 (2016). Activity of Na-V 1.2 promotes neurodegeneration in an animal model of multiple sclerosis. JCI Insight, 1 (19). ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 2379-3708

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

Zagaglia, Sara, Steel, Dora, Krithika, S., Hernandez-Hernandez, Laura, Custodio, Helena Martins, Gorman, Kathleen M., Vezyroglou, Aikaterini, Moller, Rikke S. ORCID: 0000-0002-9664-1448, King, Mary D., Hammer, Trine Bjorg, Spaull, Robert ORCID: 0000-0003-4096-6945, Fazeli, Walid, Bartolomaeus, Tobias, Doummar, Diane, Keren, Boris, Mignot, Cyril, Bednarek, Nathalie, Cross, J. Helen, Mallick, Andrew A., Sanchis-Juan, Alba, Basu, Anna, Raymond, F. Lucy, Lynch, Bryan J., Majumdar, Anirban, Stamberger, Hannah, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Sisodiya, Sanjay M. and Kurian, Manju A. (2021). RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood. Neurology, 96 (11). S. E1539 - 12. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X