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

Katherine L. Helbig(Children's Hospital of Philadelphia), Robert J. Lauerer(Hertie Institute for Clinical Brain Research), Jacqueline C Bahr(Hertie Institute for Clinical Brain Research), Ivana A. Souza(University of Calgary), Candace T. Myers(University of Washington), Betül Seher Uysal(Hertie Institute for Clinical Brain Research), Niklas Schwarz(Hertie Institute for Clinical Brain Research), María A. Gandini(University of Calgary), Sun Huang(University of Calgary), Boris Keren(Sorbonne Université), Cyril Mignot(Sorbonne Université), Alexandra Afenjar(Sorbonne Université), Thierry Billette de Villemeur(Inserm), Delphine Héron(Sorbonne Université), Caroline Nava(Sorbonne Université), Stéphanie Valence(Sorbonne Université), Julien Buratti(Sorbonne Université), Christina Fagerberg(Odense University Hospital), Kristina P. Soerensen(Odense University Hospital), Maria Kibæk(Odense University Hospital), Erik‐Jan Kamsteeg(Radboud University Nijmegen), David A. Koolen(Radboud University Nijmegen), Boudewijn Gunning(Stichting Epilepsie Instellingen Nederland), Helenius J. Schelhaas(Maastricht University Medical Centre), Michael C. Kruer(Barrow Neurological Institute), Jordana Fox(Barrow Neurological Institute), Somayeh Bakhtiari(Barrow Neurological Institute), Randa Jarrar(Barrow Neurological Institute), Sergio Padilla‐Lopez(Barrow Neurological Institute), Kristin Lindstrom(Phoenix Children's Hospital), Sheng Chih Jin(Yale University), Xue Zeng(Yale University), Kaya Bilgüvar(Yale University), Antigone Papavasileiou(Penteli General Children's Hospital), Qinghe Xing(Children's Hospital of Fudan University), Changlian Zhu(Sahlgrenska University Hospital), Katja Boysen(The University of Melbourne), Filippo Pinto e Vairo(Mayo Clinic in Florida), Brendan C. Lanpher(Mayo Clinic in Florida), Eric W. Klee(Mayo Clinic in Florida), Jan‐Mendelt Tillema(Mayo Clinic in Florida), Eric T. Payne(Mayo Clinic), Margot A. Cousin(Mayo Clinic), Teresa Kruisselbrink(Mayo Clinic), Myra Wick(Mayo Clinic), Joshua Baker(Illinois College), Eric Haan(Royal Adelaide Hospital), Nicholas Smith(Women's and Children's Hospital), Azita Sadeghpour(Duke University), Erica E. Davis(Duke University), Nicholas Katsanis(Duke University), Mark Corbett(The University of Adelaide), Alastair H. MacLennan(The University of Adelaide), Jozef Gécz(The University of Adelaide), Saskia Biskup(CeGaT (Germany)), Eva Goldmann(University of Tübingen), Lance H. Rodan(Boston Children's Hospital), Elizabeth Kichula(Children's Hospital of Philadelphia), Eric Segal(Hackensack University Medical Center), Kelly E. Jackson(University of Louisville), Alexander Asamoah(University of Louisville), David Dimmock(Children's Hospital of Wisconsin), Julie McCarrier(Children's Hospital of Wisconsin), Lorenzo D. Botto(University of Utah), Francis Filloux(University of Utah), Tatiana Tvrdik(ARUP Laboratories (United States)), Gregory D. Cascino(Mayo Clinic), Sherry Klingerman(Mayo Clinic), Catherine M. Neumann(Children's Hospital of Orange County), Raymond Wang(Children's Hospital of Orange County), Jessie C. Jacobsen(University of Auckland), Melinda Nolan(Starship Children's Health), Russell G. Snell(University of Auckland), Klaus Lehnert(University of Auckland), Lynette G. Sadleir(University of Otago), Britt‐Marie Anderlid(Karolinska University Hospital), Malin Kvarnung(Karolinska Institutet), Renzo Guerrini(Meyer Children's Hospital), Michael J. Friez(Greenwood Genetic Center), Michael J. Lyons(Greenwood Genetic Center), Jennifer Leonhard(Sanford Health), Gabriel Kringlen(Sanford Health), Kari Casas(Sanford Health), Christelle Moufawad El Achkar(Boston Children's Hospital), Lacey Smith(Boston Children's Hospital), Alexander Rotenberg(Boston Children's Hospital), Annapurna Poduri(Boston Children's Hospital), Alba Sanchis‐Juan(NHS Blood and Transplant), Keren Carss(NHS Blood and Transplant), Julia Rankin(Royal Devon & Exeter NHS Foundation Trust), Adam Zeman(Royal Devon & Exeter NHS Foundation Trust), F. Lucy Raymond(University of Cambridge), Moira Blyth(Chapel Allerton Hospital), Bronwyn Kerr(University of Manchester), Karla Ruiz(Royal Manchester Children's Hospital), Jill Urquhart(University of Manchester), Imelda Hughes(Royal Manchester Children's Hospital), Siddharth Banka(University of Manchester), Ulrike B. S. Hedrich(Hertie Institute for Clinical Brain Research), Ingrid E. Scheffer(Royal Children's Hospital), Ingo Helbig(Children's Hospital of Philadelphia), Gerald W. Zamponi(University of Calgary), Holger Lerche(Hertie Institute for Clinical Brain Research), Heather C. Mefford(University of Washington), Alexander C. Allori(Boston Children's Hospital), Misha Angrist, Patricia L. Ashley, Margarita Bidegain, Brita Boyd, Eileen Chambers, Heidi Cope, C. Michael Cotten, Theresa Curington, Erica E. Davis(Duke University), Sarah Ellestad, Kimberley Fisher, Amanda French, William B. Gallentine, Ronald Goldberg, Kevin D. Hill, Sujay Kansagra, Nicholas Katsanis(Duke University), Sara Katsanis(Duke University), Joanne Kurtzberg, Jeffrey R. Marcus, Marie McDonald(Karolinska University Hospital), Mohamad A. Mikati, Stephen P. Miller, Amy Murtha, Yezmin Perilla, Carolyn Pizoli, J. Todd Purves, Sherry S. Ross(Mayo Clinic), Azita Sadeghpour(Duke University), Edward R. Smith(Boston Children's Hospital), John S. Wiener
The American Journal of Human Genetics
October 18, 2018
Cited by 152Open Access
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