De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Am J Hum Genet
.
2019 Mar 7;104(3):562.
doi: 10.1016/j.ajhg.2019.02.015.
Authors
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
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
,
John Wiener
PMID:
30849329
PMCID:
PMC6407522
DOI:
10.1016/j.ajhg.2019.02.015
No abstract available
Publication types
Published Erratum
Grants and funding
R01 NS069605/NS/NINDS NIH HHS/United States
U54 HD083091/HD/NICHD NIH HHS/United States