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2022
Schwarz, Niklas ORCID: 0000-0002-4064-3073, Seiffert, Simone, Pendziwiat, Manuela, Rademacher, Annika Verena, Brunger, Tobias, Hedrich, Ulrike B. S., Augustijn, Paul B., Baier, Hartmut, Bayat, Allan
ORCID: 0000-0003-4986-8006, Bisulli, Francesca, Buono, Russell J., Bruria, Ben Zeev, Doyle, Michael G., Guerrini, Renzo
ORCID: 0000-0002-7272-7079, Heimer, Gali, Iacomino, Michele
ORCID: 0000-0003-4788-9719, Kearney, Hugh
ORCID: 0000-0003-2320-3487, Klein, Karl Martin
ORCID: 0000-0002-6654-1665, Kousiappa, Ioanna
ORCID: 0000-0002-7491-5946, Kunz, Wolfram S.
ORCID: 0000-0003-1113-3493, Lerche, Holger, Licchetta, Laura, Lohmann, Ebba, Minardi, Raffaella, McDonald, Marie, Montgomery, Sarah, Mulahasanovic, Lejla, Oegema, Renske, Ortal, Barel, Papacostas, Savvas S., Ragona, Francesca, Granata, Tiziana, Reif, Phillip S., Rosenow, Felix, Rothschild, Annick, Scudieri, Paolo, Striano, Pasquale, Tinuper, Paolo, Tanteles, George A., Vetro, Annalisa, Zahnert, Felix, Goldberg, Ethan M., Zara, Federico, Lal, Dennis, May, Patrick
ORCID: 0000-0001-8698-3770, Muhle, Hiltrud, Helbig, Ingo and Weber, Yvonne
(2022).
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
Neurology, 98 (20).
S. E2046 - 14.
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 1526-632X
2019
Florian, Rahel T., Kraft, Florian ORCID: 0000-0002-5324-9155, Leitao, Elsa
ORCID: 0000-0001-5051-9714, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi
ORCID: 0000-0003-3036-9266, van Rootselaar, Anne-Fleur
ORCID: 0000-0002-8376-9098, Buratti, Julien
ORCID: 0000-0002-0901-0905, Kuehnel, Theresa, Schroeder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, lamiral, AnaiDe, Keren, Boris, Nava, Caroline
ORCID: 0000-0003-1272-0518, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-Francois, Delpu, Yannick, Avarello, Mario D. M., Vijfhuizen, Lisanne S., Rudolf, Gabrielle
ORCID: 0000-0002-2050-3911, Hirsch, Edouard, Kroes, Thessa
ORCID: 0000-0003-1416-5407, Reif, Philipp S., Rosenow, Felix, Ganos, Christos
ORCID: 0000-0001-8077-8530, Vidailhet, Marie, Thivard, Lionel, Mathieu, Alexandre, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, Berkovic, Samuel F., Bisulli, Francesca, Brancati, Francesco, Canafoglia, Laura, Casari, Giorgio, Guerrini, Renzo, Ishiura, Hiroyuki, Licchetta, Laura, Mei, Davide, Pippucci, Tommaso, Sadleir, Lynette, Scheffer, Ingrid E., Striano, Pasquale
ORCID: 0000-0002-6065-1476, Tinuper, Paolo, Tsuji, Shoji, Zara, Federico, LeGuern, Eric, Klein, Karl Martin
ORCID: 0000-0002-6654-1665, Labauge, Pierre, Bennett, Mark F., Bahlo, Melanie
ORCID: 0000-0001-5132-0774, Gecz, Jozef
ORCID: 0000-0002-7884-6861, Corbett, Mark A., Tijssen, Marina A. J., van den Maagdenberg, Arn M. J. M. and Depienne, Christel
(2019).
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Nat. Commun., 10.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2041-1723
2012
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