De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
dc.contributor.author | Helbig, Katherine L | |
dc.contributor.author | Lauerer, Robert J | |
dc.contributor.author | Bahr, Jacqueline C | |
dc.contributor.author | Souza, Ivana A | |
dc.contributor.author | Myers, Candace T | |
dc.contributor.author | Uysal, Betül | |
dc.contributor.author | Schwarz, Niklas | |
dc.contributor.author | Gandini, Maria A | |
dc.contributor.author | Huang, Sun | |
dc.contributor.author | Keren, Boris | |
dc.contributor.author | Mignot, Cyril | |
dc.contributor.author | Afenjar, Alexandra | |
dc.contributor.author | Billette de Villemeur, Thierry | |
dc.contributor.author | Héron, Delphine | |
dc.contributor.author | Nava, Caroline | |
dc.contributor.author | Valence, Stéphanie | |
dc.contributor.author | Buratti, Julien | |
dc.contributor.author | Fagerberg, Christina R | |
dc.contributor.author | Soerensen, Kristina P | |
dc.contributor.author | Kibaek, Maria | |
dc.contributor.author | Kamsteeg, Erik-Jan | |
dc.contributor.author | Koolen, David A | |
dc.contributor.author | Gunning, Boudewijn | |
dc.contributor.author | Schelhaas, H Jurgen | |
dc.contributor.author | Kruer, Michael C | |
dc.contributor.author | Fox, Jordana | |
dc.contributor.author | Bakhtiari, Somayeh | |
dc.contributor.author | Jarrar, Randa | |
dc.contributor.author | Padilla-Lopez, Sergio | |
dc.contributor.author | Lindstrom, Kristin | |
dc.contributor.author | Jin, Sheng Chih | |
dc.contributor.author | Zeng, Xue | |
dc.contributor.author | Bilguvar, Kaya | |
dc.contributor.author | Papavasileiou, Antigone | |
dc.contributor.author | Xing, Qinghe | |
dc.contributor.author | Zhu, Changlian | |
dc.contributor.author | Boysen, Katja | |
dc.contributor.author | Vairo, Filippo | |
dc.contributor.author | Lanpher, Brendan C | |
dc.contributor.author | Klee, Eric W | |
dc.contributor.author | Tillema, Jan-Mendelt | |
dc.contributor.author | Payne, Eric T | |
dc.contributor.author | Cousin, Margot A | |
dc.contributor.author | Kruisselbrink, Teresa M | |
dc.contributor.author | Wick, Myra J | |
dc.contributor.author | Baker, Joshua | |
dc.contributor.author | Haan, Eric | |
dc.contributor.author | Smith, Nicholas | |
dc.contributor.author | Sadeghpour, Azita | |
dc.contributor.author | Davis, Erica E | |
dc.contributor.author | Katsanis, Nicholas | |
dc.contributor.author | Task Force for Neonatal Genomics | |
dc.contributor.author | Corbett, Mark A | |
dc.contributor.author | MacLennan, Alastair H | |
dc.contributor.author | Gecz, Jozef | |
dc.contributor.author | Biskup, Saskia | |
dc.contributor.author | Goldmann, Eva | |
dc.contributor.author | Rodan, Lance H | |
dc.contributor.author | Kichula, Elizabeth | |
dc.contributor.author | Segal, Eric | |
dc.contributor.author | Jackson, Kelly E | |
dc.contributor.author | Asamoah, Alexander | |
dc.contributor.author | Dimmock, David | |
dc.contributor.author | McCarrier, Julie | |
dc.contributor.author | Botto, Lorenzo D | |
dc.contributor.author | Filloux, Francis | |
dc.contributor.author | Tvrdik, Tatiana | |
dc.contributor.author | Cascino, Gregory D | |
dc.contributor.author | Klingerman, Sherry | |
dc.contributor.author | Neumann, Catherine | |
dc.contributor.author | Wang, Raymond | |
dc.contributor.author | Jacobsen, Jessie C | |
dc.contributor.author | Nolan, Melinda A | |
dc.contributor.author | Snell, Russell G | |
dc.contributor.author | Lehnert, Klaus | |
dc.contributor.author | Sadleir, Lynette G | |
dc.contributor.author | Anderlid, Britt-Marie | |
dc.contributor.author | Kvarnung, Malin | |
dc.contributor.author | Guerrini, Renzo | |
dc.contributor.author | Friez, Michael J | |
dc.contributor.author | Lyons, Michael J | |
dc.contributor.author | Leonhard, Jennifer | |
dc.contributor.author | Kringlen, Gabriel | |
dc.contributor.author | Casas, Kari | |
dc.contributor.author | El Achkar, Christelle M | |
dc.contributor.author | Smith, Lacey A | |
dc.contributor.author | Rotenberg, Alexander | |
dc.contributor.author | Poduri, Annapurna | |
dc.contributor.author | Sanchis-Juan, Alba | |
dc.contributor.author | Carss, Keren J | |
dc.contributor.author | Rankin, Julia | |
dc.contributor.author | Zeman, Adam | |
dc.contributor.author | Raymond, F Lucy | |
dc.contributor.author | Blyth, Moira | |
dc.contributor.author | Kerr, Bronwyn | |
dc.contributor.author | Ruiz, Karla | |
dc.contributor.author | Urquhart, Jill | |
dc.contributor.author | Hughes, Imelda | |
dc.contributor.author | Banka, Siddharth | |
dc.contributor.author | Deciphering Developmental Disorders Study | |
dc.contributor.author | Hedrich, Ulrike BS | |
dc.contributor.author | Scheffer, Ingrid E | |
dc.contributor.author | Helbig, Ingo | |
dc.contributor.author | Zamponi, Gerald W | |
dc.contributor.author | Lerche, Holger | |
dc.contributor.author | Mefford, Heather C | |
dc.date.accessioned | 2022-03-23T15:34:48Z | |
dc.date.available | 2022-03-23T15:34:48Z | |
dc.date.issued | 2019-03 | |
dc.date.updated | 2022-03-23T15:34:48Z | |
dc.description.abstract | (The American Journal of Human Genetics 103, 666–678; November 1, 2018) In the version of this article originally published online, Qinghe Xing's name was misspelled as Qinghe Xin. Also, Azita Sadeghpour, Erica E. Davis, and Nicholas Katsanis (all at Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA) and the Task Force for Neonatal Genomics were omitted from the author list. The members of the Task Force for Neonatal Genomics are as follows: Alexander Allori, Misha Angrist, Patricia Ashley, Margarita Bidegain, Brita Boyd, Eileen Chambers, Heidi Cope, C. Michael Cotten, Theresa Curington, Erica E. Davis, Sarah Ellestad, Kimberley Fisher, Amanda French, William Gallentine, Ronald Goldberg, Kevin Hill, Sujay Kansagra, Nicholas Katsanis, Sara Katsanis, Joanne Kurtzberg, Jeffrey Marcus, Marie McDonald, Mohammed Mikati, Stephen Miller, Amy Murtha, Yezmin Perilla, Carolyn Pizoli, Todd Purves, Sherry Ross, Azita Sadeghpour, Edward Smith, and John Wiener. The authors apologize for these omissions. | |
dc.identifier | S0002-9297(19)30060-6 | |
dc.identifier.issn | 0002-9297 | |
dc.identifier.issn | 1537-6605 | |
dc.identifier.uri | ||
dc.language | eng | |
dc.publisher | Elsevier BV | |
dc.relation.ispartof | American journal of human genetics | |
dc.relation.isversionof | 10.1016/j.ajhg.2019.02.015 | |
dc.subject | Task Force for Neonatal Genomics | |
dc.subject | Deciphering Developmental Disorders Study | |
dc.title | De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. | |
dc.type | Journal article | |
duke.contributor.orcid | Davis, Erica E|0000-0002-2412-8397 | |
pubs.begin-page | 562 | |
pubs.issue | 3 | |
pubs.organisational-group | Duke | |
pubs.organisational-group | School of Medicine | |
pubs.organisational-group | Faculty | |
pubs.organisational-group | Basic Science Departments | |
pubs.organisational-group | Clinical Science Departments | |
pubs.organisational-group | Institutes and Centers | |
pubs.organisational-group | Cell Biology | |
pubs.organisational-group | Neurobiology | |
pubs.organisational-group | Pathology | |
pubs.organisational-group | Pediatrics | |
pubs.organisational-group | Surgery | |
pubs.organisational-group | Pediatrics, Medical Genetics | |
pubs.organisational-group | Pediatrics, Neonatology | |
pubs.organisational-group | Pediatrics, Neurology | |
pubs.organisational-group | Surgery, Plastic, Maxillofacial, and Oral Surgery | |
pubs.organisational-group | Surgery, Urology | |
pubs.organisational-group | Duke Cancer Institute | |
pubs.organisational-group | Institutes and Provost's Academic Units | |
pubs.organisational-group | University Institutes and Centers | |
pubs.organisational-group | Social Science Research Institute | |
pubs.organisational-group | Duke Institute for Brain Sciences | |
pubs.organisational-group | Duke-UNC Center for Brain Imaging and Analysis | |
pubs.organisational-group | Neurology | |
pubs.organisational-group | Initiatives | |
pubs.organisational-group | Duke Science & Society | |
pubs.organisational-group | Duke Innovation & Entrepreneurship | |
pubs.organisational-group | Head and Neck Surgery & Communication Sciences | |
pubs.organisational-group | Pediatrics, Transplant and Cellular Therapy | |
pubs.publication-status | Published | |
pubs.volume | 104 |
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