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

Author:

Helbig Katherine L.,Lauerer Robert J.,Bahr Jacqueline C.,Souza Ivana A.,Myers Candace T.,Uysal Betül,Schwarz Niklas,Gandini Maria A.,Huang Sun,Keren Boris,Mignot Cyril,Afenjar Alexandra,Billette de Villemeur Thierry,Héron Delphine,Nava Caroline,Valence Stéphanie,Buratti Julien,Fagerberg Christina R.,Soerensen Kristina P.,Kibaek Maria,Kamsteeg Erik-Jan,Koolen David A.,Gunning Boudewijn,Schelhaas H. Jurgen,Kruer Michael C.,Fox Jordana,Bakhtiari Somayeh,Jarrar Randa,Padilla-Lopez Sergio,Lindstrom Kristin,Jin Sheng Chih,Zeng Xue,Bilguvar Kaya,Papavasileiou Antigone,Xing Qinghe,Zhu Changlian,Boysen Katja,Vairo Filippo,Lanpher Brendan C.,Klee Eric W.,Tillema Jan-Mendelt,Payne Eric T.,Cousin Margot A.,Kruisselbrink Teresa M.,Wick Myra J.,Baker Joshua,Haan Eric,Smith Nicholas,Sadeghpour Azita,Davis Erica E.,Katsanis Nicholas,Corbett Mark A.,MacLennan Alastair H.,Gecz Jozef,Biskup Saskia,Goldmann Eva,Rodan Lance H.,Kichula Elizabeth,Segal Eric,Jackson Kelly E.,Asamoah Alexander,Dimmock David,McCarrier Julie,Botto Lorenzo D.,Filloux Francis,Tvrdik Tatiana,Cascino Gregory D.,Klingerman Sherry,Neumann Catherine,Wang Raymond,Jacobsen Jessie C.,Nolan Melinda A.,Snell Russell G.,Lehnert Klaus,Sadleir Lynette G.,Anderlid Britt-Marie,Kvarnung Malin,Guerrini Renzo,Friez Michael J.,Lyons Michael J.,Leonhard Jennifer,Kringlen Gabriel,Casas Kari,El Achkar Christelle M.,Smith Lacey A.,Rotenberg Alexander,Poduri Annapurna,Sanchis-Juan Alba,Carss Keren J.,Rankin Julia,Zeman Adam,Raymond F. Lucy,Blyth Moira,Kerr Bronwyn,Ruiz Karla,Urquhart Jill,Hughes Imelda,Banka Siddharth,Hedrich Ulrike B.S.,Scheffer Ingrid E.,Helbig Ingo,Zamponi Gerald W.,Lerche Holger,Mefford Heather C.,Allori Alexander,Angrist Misha,Ashley Patricia,Bidegain Margarita,Boyd Brita,Chambers Eileen,Cope Heidi,Cotten C. Michael,Curington Theresa,Davis Erica E.,Ellestad Sarah,Fisher Kimberley,French Amanda,Gallentine William,Goldberg Ronald,Hill Kevin,Kansagra Sujay,Katsanis Nicholas,Katsanis Sara,Kurtzberg Joanne,Marcus Jeffrey,McDonald Marie,Mikati Mohammed,Miller Stephen,Murtha Amy,Perilla Yezmin,Pizoli Carolyn,Purves Todd,Ross Sherry,Sadeghpour Azita,Smith Edward,Wiener John

Funder

Hertie Institute of Clinical Brain Research

Lennox-Gastaut Syndrome Foundation

Alberta Innovates

CIHR

The Channel 7 Children’s Research Foundation

Cerebral Palsy Alliance Research Foundation

The Brian and Caris Chan Family Foundation

New Zealand Government

Health Research Council of New Zealand

Cure Kids New Zealand

Canadian Institutes of Health Research

Cambridge BRC

National Institute for Health Research England

National Health and Medical Research Council of Australia

National Institutes of Health

Australian Research Council

CURE

March of Dimes

DFG Research Unit FOR 2715

NIH

Health Innovation Challenge Fund

Wellcome Trust

Department of Health

Wellcome Trust Sanger Institute

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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