De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Titel:
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Auteur:
Helbig, Katherine L. Lauerer, Robert J. Bahr, Jacqueline C. Souza, Ivana A. Myers, Candace T. Uysal, Betül Schwarz, Niklas Gandini, Maria A. Huang, Sun Keren, Boris Mignot, Cyril Afenjar, Alexandra Billette de Villemeur, Thierry Héron, Delphine Nava, Caroline Valence, Stéphanie Buratti, Julien Fagerberg, Christina R. Soerensen, Kristina P. Kibaek, Maria Kamsteeg, Erik-Jan Koolen, David A. Gunning, Boudewijn Schelhaas, H. Jurgen Kruer, Michael C. Fox, Jordana Bakhtiari, Somayeh Jarrar, Randa Padilla-Lopez, Sergio Lindstrom, Kristin Jin, Sheng Chih Zeng, Xue Bilguvar, Kaya Papavasileiou, Antigone Xing, Qinghe Zhu, Changlian Boysen, Katja Vairo, Filippo Lanpher, Brendan C. Klee, Eric W. Tillema, Jan-Mendelt Payne, Eric T. Cousin, Margot A. Kruisselbrink, Teresa M. Wick, Myra J. Baker, Joshua Haan, Eric Smith, Nicholas Sadeghpour, Azita Davis, Erica E. Katsanis, Nicholas Corbett, Mark A. MacLennan, Alastair H. Gecz, Jozef Biskup, Saskia Goldmann, Eva Rodan, Lance H. Kichula, Elizabeth Segal, Eric Jackson, Kelly E. Asamoah, Alexander Dimmock, David McCarrier, Julie Botto, Lorenzo D. Filloux, Francis Tvrdik, Tatiana Cascino, Gregory D. Klingerman, Sherry Neumann, Catherine Wang, Raymond Jacobsen, Jessie C. Nolan, Melinda A. Snell, Russell G. Lehnert, Klaus Sadleir, Lynette G. Anderlid, Britt-Marie Kvarnung, Malin Guerrini, Renzo Friez, Michael J. Lyons, Michael J. Leonhard, Jennifer Kringlen, Gabriel Casas, Kari El Achkar, Christelle M. Smith, Lacey A. Rotenberg, Alexander Poduri, Annapurna Sanchis-Juan, Alba Carss, Keren J. Rankin, Julia Zeman, Adam Raymond, F. Lucy Blyth, Moira Kerr, Bronwyn Ruiz, Karla Urquhart, Jill Hughes, Imelda Banka, Siddharth Hedrich, Ulrike B.S. Scheffer, Ingrid E. Helbig, Ingo Zamponi, Gerald W. Lerche, Holger Mefford, Heather C.