Universität zu Köln

Journal Article

Macha, Arthur, Liebsch, Filip ORCID: 0000-0002-0955-8065, Fricke, Steffen, Hetsch, Florian, Neuser, Franziska, Johannes, Lena, Kress, Vanessa, Djemie, Tania, Santamaria-Araujo, Jose A., Vilain, Catheline, Aeby, Alec, Van Bogaert, Patrick, Dejanovic, Borislav, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Meier, Jochen C. and Schwarz, Guenter (2022). Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy. Hum. Mol. Genet., 31 (6). S. 901 - 914. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Brunklaus, Andreas ORCID: 0000-0002-7728-6903, Perez-Palma, Eduardo, Ghanty, Ismael, Xinge, Ji, Brilstra, Eva, Ceulemans, Berten ORCID: 0000-0001-7818-0679, Chemaly, Nicole, de Lange, Iris, Depienne, Christel ORCID: 0000-0002-7212-9554, Guerrini, Renzo ORCID: 0000-0002-7272-7079, Mei, Davide, Moller, Rikke S. ORCID: 0000-0002-9664-1448, Nabbout, Rima, Regan, Brigid M., Schneider, Amy L., Scheffer, Ingrid E., Schoonjans, An-Sofie, Symonds, Joseph D., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Kattan, Michael W., Zuberi, Sameer M. and Lal, Dennis (2022). Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies. Neurology, 98 (11). S. E1163 - 12. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

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

Brunklaus, Andreas ORCID: 0000-0002-7728-6903, Du, Juanjiangmeng, Steckler, Felix, Ghanty, Ismael I., Johannesen, Katrine M., Fenger, Christina Duhring, Schorge, Stephanie, Baez-Nieto, David, Wang, Hao-Ran, Allen, Andrew, Pan, Jen Q., Lerche, Holger, Heyne, Henrike, Symonds, Joseph D., Zuberi, Sameer M., Sanders, Stephan, Sheidley, Beth R., Craiu, Dana, Olson, Heather E., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, DeJonge, Peter, Helbig, Ingo, Van Esch, Hilde, Busa, Tiffany, Milh, Matthieu, Isidor, Bertrand, Depienne, Christel, Poduri, Annapurna, Campbell, Arthur J., Dimidschstein, Jordane, Moller, Rikke S. and Lal, Dennis (2020). Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia, 61 (3). S. 387 - 400. HOBOKEN: WILEY. ISSN 1528-1167

Lal, Dennis, May, Patrick ORCID: 0000-0001-8698-3770, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Samocha, Kaitlin E., Kosmicki, Jack A., Robinson, Elise B., Moller, Rikke S., Krause, Roland, Nuernberg, Peter, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, De Jonghe, Peter, Guerrini, Renzo ORCID: 0000-0002-7272-7079, Niestroj, Lisa M., Du, Juliana, Marini, Carla, Ware, James S., Kurki, Mitja, Gormley, Padhraig, Tang, Sha, Wu, Sitao, Biskup, Saskia, Poduri, Annapurna, Neubauer, Bernd A., Koeleman, Bobby P. C., Helbig, Katherine L., Weber, Yvonne G., Helbig, Ingo, Majithia, Amit R., Palotie, Aarno and Daly, Mark J. (2020). Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. Genome Med., 12 (1). LONDON: BMC. ISSN 1756-994X

Wolking, Stefan ORCID: 0000-0002-1460-6623, Schulz, Herbert, Nies, Anne T., McCormack, Mark, Schaeffeler, Elke, Auce, Pauls, Avbersek, Andreja, Becker, Felicitas, Klein, Karl M., Krenn, Martin, Moller, Rikke S., Nikanorova, Marina, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Cavalleri, Gianpiero L., Delanty, Norman, Depondt, Chantal, Johnson, Michael R., Koeleman, Bobby P. C., Kunz, Wolfram S., Marson, Anthony G., Sander, Josemir W., Sills, Graeme J., Striano, Pasquale ORCID: 0000-0002-6065-1476, Zara, Federico, Zimprich, Fritz, Weber, Yvonne G., Krause, Roland, Sisodiya, Sanjay, Schwab, Matthias, Sander, Thomas and Lerche, Holger (2020). Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study. Pharmacogenomics, 21 (5). S. 325 - 336. LONDON: FUTURE MEDICINE LTD. ISSN 1744-8042

Wolking, Stefan ORCID: 0000-0002-1460-6623, May, Patrick ORCID: 0000-0001-8698-3770, Mei, Davide ORCID: 0000-0001-6790-6251, Moller, Rikke S., Balestrini, Simona ORCID: 0000-0001-5639-1969, Helbig, Katherine L., Altuzarra, Cecilia Desmettre, Chatron, Nicolas, Kaiwar, Charu ORCID: 0000-0002-0862-9538, Stohr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce A., Numis, Adam, Cilio, Maria R., Van Paesschen, Wim, Svendsen, Lene L., Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Saenz, Margarita Sifuentes, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair T., Vavoulis, Dimitris V., Knight, Samantha J. L., Taylor, Jenny C., Canevini, Maria Paola, Darra, Francesca, Gavrilova, Ralitza H., Powis, Zoe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric W., Kluger, Gerhard J., Lowenstein, Daniel H., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Pal, Deb K., Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys H., Rees, Mark I., Lesca, Gaetan ORCID: 0000-0001-7691-9492, Sisodiya, Sanjay M., Weber, Yvonne G., Lal, Dennis, Marini, Carla, Lerche, Holger and Schubert, Julian (2019). Clinical spectrum of STX1B-related epileptic disorders. Neurology, 92 (11). S. E1238 - 12. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo ORCID: 0000-0002-8475-7187, Cetica, Valentina, Lal, Dennis, Djemie, Tania, Bartnik-Glaska, Magdalena, Ceulemans, Berten, Cross, J. Helen, Deconinck, Tine, De Masi, Salvatore, Dorn, Thomas, Guerrini, Renzo, Hoffman-Zacharska, Dorotha, Kooy, Frank ORCID: 0000-0003-2024-0485, Lagae, Lieven, Lench, Nicholas, Lemke, Johannes R., Lucenteforte, Ersilia ORCID: 0000-0001-5608-5902, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An-Sofie, Striano, Pasquale ORCID: 0000-0002-6065-1476, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Zara, Federico, Jonghe, Peter De, Sisodiya, Sanjay M., Marini, Carla, Lehesjioki, Anna-Elina, Craiu, Dana, Talvik, Tiina, Caglayan, Hande, Serratosa, Jose, Sterbova, Katalin, Moller, Rikke S., Hjalgrim, Helle, Lerche, Holger, Weber, Yvonne, Helbig, Ingo, von Spiczak, Sarah, Barba, Carmen, Bogaerts, Anneleen, Boni, Antonella, Galizia, Elisabeth Caruana, Chiari, Sara, Clementella, Claudia, Di Gacomo, Gianpiero, Ferrari, Annarita, Guarducci, Silvia, Giglio, Sabrina ORCID: 0000-0002-3954-326X, Holmgren, Philip, Leu, Costin, Mari, Francesco, Melani, Federico, Novara, Francesca, Pantaleo, Marilena, Peeters, Elke, Pisano, Tiziana ORCID: 0000-0001-8920-9078, Rosati, Anna ORCID: 0000-0002-8754-7214, Sander, Josemir, Schoeler, Natasha ORCID: 0000-0001-6202-1497, Stankiewicz, Pawel, Striano, Salvatore, Suls, Arvid, Traverso, Monica, Vandeweyer, Geert, Van Dijck, Anke ORCID: 0000-0002-6713-2943 and Zuffardi, Orsetta (2019). Diagnostic implications of genetic copy number variation in epilepsy plus. Epilepsia, 60 (4). S. 689 - 707. HOBOKEN: WILEY. ISSN 1528-1167

Heyne, Henrike O., Singh, Tarjinder ORCID: 0000-0003-0601-6815, Stamberger, Hannah, Abou Jamra, Rami, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Guerrini, Renzo, Helbig, Katherine L., Koeleman, Bobby P. C., Kosmicki, Jack A., Linnankivi, Tarja, May, Patrick ORCID: 0000-0001-8698-3770, Muhle, Hiltrud, Moller, Rikke S., Neubauer, Bernd A., Palotie, Aarno, Pendziwiat, Manuela, Striano, Pasquale ORCID: 0000-0002-6065-1476, Tang, Sha, Wu, Sitao, Poduri, Annapurna, Weber, Yvonne G., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Sisodiya, Sanjay M., Daly, Mark J., Helbig, Ingo, Lal, Dennis and Lemke, Johannes R. (2018). De novo variants in neurodevelopmental disorders with epilepsy. Nature Genet., 50 (7). S. 1048 - 1056. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

May, Patrick ORCID: 0000-0001-8698-3770, Girard, Simon ORCID: 0000-0002-4089-2280, Harrer, Merle, Bobbili, Dheeraj R., Schubert, Julian, Wolking, Stefan ORCID: 0000-0002-1460-6623, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E., Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-Lopez, Rosa, Baulac, Stephanie ORCID: 0000-0001-6430-4693, Marini, Carla, Thiele, Holger, Altmueller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestele, Sandrine ORCID: 0000-0002-5982-1562, Terragni, Benedetta, Coombs, Ian D., Reid, Christopher A., Striano, Pasquale ORCID: 0000-0002-6065-1476, Caglayan, Hande, Siren, Auli, Everett, Kate ORCID: 0000-0001-6700-1698, Moller, Rikke S., Hjalgrim, Helle, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Weber, Yvonne G., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, De Jonghe, Peter, Sisodiya, Sanjay M., Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S., Trenite, Dorothee Kasteleijn-Nolst, Baykan, Betul, Ozbek, Ugur ORCID: 0000-0001-5319-0547, Bebek, Nerses, Klein, Karl M., Rosenow, Felix, Nguyen, Dang K., Dubeau, Francois, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clement, Jean-Francois, Cieuta-Walti, Cecile, 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 ORCID: 0000-0003-3026-3082, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi ORCID: 0000-0003-2902-5650, Ikram, M. Arfan, Uitterlinden, Andre G., Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven ORCID: 0000-0002-4960-6375, Mantegazza, Massimo ORCID: 0000-0002-1070-7929, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M., Koeleman, Bobby P. C., Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Nuernberg, Peter, Maljevic, Snezana ORCID: 0000-0003-1876-5872, Zara, Federico, Cossette, Patrick, Krause, Roland ORCID: 0000-0001-9938-7126 and Lerche, Holger (2018). Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies: an exome-based case-control study. Lancet Neurol., 17 (8). S. 699 - 709. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1474-4465

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

Gardella, Elena ORCID: 0000-0002-7138-6022, Becker, Felicitas, Moller, Rikke S., Schubert, Julian, Lemke, Johannes R., Larsen, Line H. G., Eiberg, Hans, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Thiele, Holger, Altmueller, Janine, Syrbe, Steffen, Merkenschlager, Andreas, Bast, Thomas, Steinhoff, Bernhard, Nuernberg, Peter, Mang, Yuan, Moller, Louise Bakke, Gellert, Pia, Heron, Sarah E., Dibbens, Leanne M., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Dahl, Hans Atli, Biskup, Saskia, Tommerup, Niels ORCID: 0000-0003-2304-0112, Hjalgrim, Helle, Lerche, Holger, Beniczky, Sandor ORCID: 0000-0002-6035-6581 and Weber, Yvonne G. (2016). Benign Infantile Seizures and Paroxysmal Dyskinesia Caused by an SCN8A Mutation. Ann. Neurol., 79 (3). S. 428 - 437. HOBOKEN: WILEY. ISSN 1531-8249

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

Gardella, Elena ORCID: 0000-0002-7138-6022, Beniczky, Sandor ORCID: 0000-0002-6035-6581, Moller, Rikke S., Becker, Felicitas, Lemke, Johannes R., Syrbe, Steffen, Eiberg, Hans, Bast, Thomas, Steinhoff, Bernhard, Nuernberg, Peter, Gellert, Pia, Dahl, Hans Atli, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Heron, Sarah E., Dibbens, Leanne M., Hjalgrim, Helle, Lerche, Holger and Weber, Yvonne G. (2016). PKD or Not PKD: That Is the Question Reply. Ann. Neurol., 80 (1). S. 168 - 171. HOBOKEN: WILEY. ISSN 1531-8249

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

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

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