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Published Erratum
. 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 B S Hedrich, Ingrid E Scheffer, Ingo Helbig, Gerald W Zamponi, Holger Lerche, Heather C Mefford
Collaborators
Published Erratum

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

Katherine L Helbig et al. Am J Hum Genet. .
No abstract available

PubMed Disclaimer

Erratum for

  • De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
    Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I, Zampo… See abstract for full author list ➔ Helbig KL, et al. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.

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