De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Author: Helbig, Katherine L.; Lauerer, Robert J.; Bahr, Jacqueline C.; Souza, Ivana A.; Myers, Candace T.; Uysal, Betuel; Schwarz, Niklas; Gandini, Maria A.; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; de Villemeur, Thierry Billette; Heron, Delphine; Nava, Caroline; Valence, Stephanie; 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; Xin, 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; 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.
Tübinger Autor(en):
Lauerer, Robert J.
Bahr, Jacqueline C.
Schwarz, Niklas
Goldmann, Eva
Hedrich, Ulrike B. S.
Lerche, Holger
Uysal, Betül
Published in: American Journal of Human Genetics (2018), Bd. 103, H. 5, S. 666-678
Verlagsangabe: Cell Press
Language: English
Full text: http://dx.doi.org/10.1016/j.ajhg.2018.09.006
ISSN: 1537-6605
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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