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. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015

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

Katherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, Ivana A Souza, Candace T Myers, Betül Uysal, Niklas Schwarz, Maria A Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina R Fagerberg, Kristina P Soerensen, Maria Kibaek, Erik-Jan Kamsteeg, David A Koolen, Boudewijn Gunning, H Jurgen Schelhaas, Michael C Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-Lopez, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilguvar, Antigone Papavasileiou, Qinghe Xing, Changlian Zhu, Katja Boysen, Filippo Vairo, Brendan C Lanpher, Eric W Klee, Jan-Mendelt Tillema, Eric T Payne, Margot A Cousin, Teresa M Kruisselbrink, Myra J Wick, Joshua Baker, Eric Haan, Nicholas Smith, Azita Sadeghpour, Erica E Davis, Nicholas Katsanis; Task Force for Neonatal Genomics, Mark A Corbett, Alastair H MacLennan, Jozef Gecz, Saskia Biskup, Eva Goldmann, Lance H Rodan, Elizabeth Kichula, Eric Segal, Kelly E Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D Botto, Francis Filloux, Tatiana Tvrdik, Gregory D Cascino, Sherry Klingerman, Catherine Neumann, Raymond Wang, Jessie C Jacobsen, Melinda A Nolan, Russell G Snell, Klaus Lehnert, Lynette G Sadleir, Britt-Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J Friez, Michael J Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle M El Achkar, Lacey A Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis-Juan, Keren J Carss, Julia Rankin, Adam Zeman, F Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka; Deciphering Developmental Disorders Study, Ulrike BS Hedrich, Ingrid E Scheffer, Ingo Helbig, Gerald W Zamponi, Holger Lerche, Heather C Mefford
PMCID: PMC6407522  PMID: 30849329

(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.

Contributor Information

Heather C. Mefford, Email: hmefford@uw.edu.

Task Force for Neonatal Genomics:

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


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