%0 Journal Article
%T De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
%A Adam Zeman
%A Alastair H. MacLennan
%A Alba Sanchis-Juan
%A Alexander Asamoah
%A Alexander Rotenberg
%A Alexandra Afenjar
%A Annapurna Poduri
%A Antigone Papavasileiou
%A Azita Sadeghpour
%A Bet¨¹l Uysal
%A Boris Keren
%A Boudewijn Gunning
%A Brendan C. Lanpher
%A Britt-Marie Anderlid
%A Bronwyn Kerr
%A Candace T. Myers
%A Caroline Nava
%A Catherine Neumann
%A Changlian Zhu
%A Christelle M. El Achkar
%A Christina R. Fagerberg
%A Cyril Mignot
%A David A. Koolen
%A David Dimmock
%A Deciphering Developmental Disorders Study
%A Delphine H¨¦ron
%A Elizabeth Kichula
%A Eric Haan
%A Eric Segal
%A Eric T. Payne
%A Eric W. Klee
%A Erica E. Davis
%A Erik-Jan Kamsteeg
%A Eva Goldmann
%A F. Lucy Raymond
%A Filippo Vairo
%A Francis Filloux
%A Gabriel Kringlen
%A Gerald W. Zamponi
%A Gregory D. Cascino
%A H. Jurgen Schelhaas
%A Holger Lerche
%A Imelda Hughes
%A Ingo Helbig
%A Ingrid E. Scheffer
%A Ivana A. Souza
%A Jacqueline C. Bahr
%A Jan-Mendelt Tillema
%A Jennifer Leonhard
%A Jessie C. Jacobsen
%A Jill Urquhart
%A Jordana Fox
%A Joshua Baker
%A Jozef Gecz
%A Julia Rankin
%A Julie McCarrier
%A Julien Buratti
%A Kari Casas
%A Karla Ruiz
%A Katherine L. Helbig
%A Katja Boysen
%A Kaya Bilguvar
%A Kelly E. Jackson
%A Keren J. Carss
%A Klaus Lehnert
%A Kristin Lindstrom
%A Kristina P. Soerensen
%A Lacey A. Smith
%A Lance H. Rodan
%A Lorenzo D. Botto
%A Lynette G. Sadleir
%A Malin Kvarnung
%A Margot A. Cousin
%A Maria A. Gandini
%A Maria Kibaek
%A Mark A. Corbett
%A Melinda A. Nolan
%A Michael C. Kruer
%A Michael J. Friez
%A Michael J. Lyons
%A Moira Blyth
%A Myra J. Wick
%A Nicholas Katsanis
%A Nicholas Smith
%A Niklas Schwarz
%A Qinghe Xing
%A Randa Jarrar
%A Raymond Wang
%A Renzo Guerrini
%A Robert J. Lauerer
%A Russell G. Snell
%A Saskia Biskup
%J Archive of "American Journal of Human Genetics".
%D 2019
%R 10.1016/j.ajhg.2019.02.015
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522/