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

Helbig, Katherine LLauerer, Robert JBahr, Jacqueline CSouza, Ivana AMyers, Candace TUysal, BetülSchwarz, NiklasGandini, Maria AHuang, SunKeren, BorisMignot, CyrilAfenjar, AlexandraBillette de Villemeur, ThierryHéron, DelphineNava, CarolineValence, StéphanieBuratti, JulienFagerberg, Christina RSoerensen, Kristina PKibaek, MariaKamsteeg, Erik-JanKoolen, David AGunning, BoudewijnSchelhaas, H JurgenKruer, Michael CFox, JordanaBakhtiari, SomayehJarrar, RandaPadilla-Lopez, SergioLindstrom, KristinJin, Sheng ChihZeng, XueBilguvar, KayaPapavasileiou, AntigoneXing, QingheZhu, ChanglianBoysen, KatjaVairo, FilippoLanpher, Brendan CKlee, Eric WTillema, Jan-MendeltPayne, Eric TCousin, Margot AKruisselbrink, Teresa MWick, Myra JBaker, JoshuaHaan, EricSmith, NicholasSadeghpour, AzitaDavis, Erica EKatsanis, NicholasTask Force for Neonatal GenomicsCorbett, Mark AMacLennan, Alastair HGecz, JozefBiskup, SaskiaGoldmann, EvaRodan, Lance HKichula, ElizabethSegal, EricJackson, Kelly EAsamoah, AlexanderDimmock, DavidMcCarrier, JulieBotto, Lorenzo DFilloux, FrancisTvrdik, TatianaCascino, Gregory DKlingerman, SherryNeumann, CatherineWang, RaymondJacobsen, Jessie CNolan, Melinda ASnell, Russell GLehnert, KlausSadleir, Lynette GAnderlid, Britt-MarieKvarnung, MalinGuerrini, RenzoFriez, Michael JLyons, Michael JLeonhard, JenniferKringlen, GabrielCasas, KariEl Achkar, Christelle MSmith, Lacey ARotenberg, AlexanderPoduri, AnnapurnaSanchis-Juan, AlbaCarss, Keren JRankin, JuliaZeman, AdamRaymond, F LucyBlyth, MoiraKerr, BronwynRuiz, KarlaUrquhart, JillHughes, ImeldaBanka, SiddharthDeciphering Developmental Disorders StudyHedrich, Ulrike BSScheffer, Ingrid EHelbig, IngoZamponi, Gerald WLerche, HolgerMefford, Heather C2022-03-232022-03-232019-030002-92971537-6605https://hdl.handle.net/10161/24601(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.Task Force for Neonatal GenomicsDeciphering Developmental Disorders StudyDe Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.Journal article2022-03-23