• Media type: E-Article
  • Title: De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
  • Contributor: 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; [...]
  • Published: Elsevier BV, 2019
  • Published in: The American Journal of Human Genetics, 104 (2019) 3, Seite 562
  • Language: English
  • DOI: 10.1016/j.ajhg.2019.02.015
  • ISSN: 0002-9297
  • Origination:
  • Footnote:
  • Access State: Open Access