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

dc.contributor.author

Helbig, Katherine L

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Lauerer, Robert J

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Bahr, Jacqueline C

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Souza, Ivana A

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Myers, Candace T

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Uysal, Betül

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Schwarz, Niklas

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Gandini, Maria A

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Huang, Sun

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Keren, Boris

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Mignot, Cyril

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Afenjar, Alexandra

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Billette de Villemeur, Thierry

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Héron, Delphine

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Nava, Caroline

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Valence, Stéphanie

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Buratti, Julien

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Fagerberg, Christina R

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Soerensen, Kristina P

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Kibaek, Maria

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Kamsteeg, Erik-Jan

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Koolen, David A

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Gunning, Boudewijn

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Schelhaas, H Jurgen

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Kruer, Michael C

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Fox, Jordana

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Bakhtiari, Somayeh

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Jarrar, Randa

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Padilla-Lopez, Sergio

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Lindstrom, Kristin

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Jin, Sheng Chih

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Zeng, Xue

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Bilguvar, Kaya

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Papavasileiou, Antigone

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Xing, Qinghe

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Zhu, Changlian

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Boysen, Katja

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Vairo, Filippo

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Lanpher, Brendan C

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Klee, Eric W

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Tillema, Jan-Mendelt

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Payne, Eric T

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Cousin, Margot A

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Kruisselbrink, Teresa M

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Wick, Myra J

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Baker, Joshua

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Haan, Eric

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Smith, Nicholas

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Sadeghpour, Azita

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Davis, Erica E

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Katsanis, Nicholas

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Task Force for Neonatal Genomics

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Corbett, Mark A

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MacLennan, Alastair H

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Gecz, Jozef

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Biskup, Saskia

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Goldmann, Eva

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Rodan, Lance H

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Kichula, Elizabeth

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Segal, Eric

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Jackson, Kelly E

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Asamoah, Alexander

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Dimmock, David

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McCarrier, Julie

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Botto, Lorenzo D

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Filloux, Francis

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Tvrdik, Tatiana

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Cascino, Gregory D

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Klingerman, Sherry

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Neumann, Catherine

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Wang, Raymond

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Jacobsen, Jessie C

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Nolan, Melinda A

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Snell, Russell G

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Lehnert, Klaus

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Sadleir, Lynette G

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Anderlid, Britt-Marie

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Kvarnung, Malin

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Guerrini, Renzo

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Friez, Michael J

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Lyons, Michael J

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Leonhard, Jennifer

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Kringlen, Gabriel

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Casas, Kari

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El Achkar, Christelle M

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Smith, Lacey A

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Rotenberg, Alexander

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Poduri, Annapurna

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Sanchis-Juan, Alba

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Carss, Keren J

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Rankin, Julia

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Zeman, Adam

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Raymond, F Lucy

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Blyth, Moira

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Kerr, Bronwyn

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Ruiz, Karla

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Urquhart, Jill

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Hughes, Imelda

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Banka, Siddharth

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Deciphering Developmental Disorders Study

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Hedrich, Ulrike BS

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Scheffer, Ingrid E

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Helbig, Ingo

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Zamponi, Gerald W

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Lerche, Holger

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Mefford, Heather C

dc.date.accessioned

2022-03-23T15:34:48Z

dc.date.available

2022-03-23T15:34:48Z

dc.date.issued

2019-03

dc.date.updated

2022-03-23T15:34:48Z

dc.description.abstract

(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.

dc.identifier

S0002-9297(19)30060-6

dc.identifier.issn

0002-9297

dc.identifier.issn

1537-6605

dc.identifier.uri

https://hdl.handle.net/10161/24601

dc.language

eng

dc.publisher

Elsevier BV

dc.relation.ispartof

American journal of human genetics

dc.relation.isversionof

10.1016/j.ajhg.2019.02.015

dc.subject

Task Force for Neonatal Genomics

dc.subject

Deciphering Developmental Disorders Study

dc.title

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

dc.type

Journal article

duke.contributor.orcid

Davis, Erica E|0000-0002-2412-8397

pubs.begin-page

562

pubs.issue

3

pubs.organisational-group

Duke

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School of Medicine

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Faculty

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Basic Science Departments

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Clinical Science Departments

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Institutes and Centers

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Cell Biology

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Neurobiology

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Pathology

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Pediatrics

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Surgery

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Pediatrics, Medical Genetics

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Pediatrics, Neonatology

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Pediatrics, Neurology

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Surgery, Plastic, Maxillofacial, and Oral Surgery

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Surgery, Urology

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Duke Cancer Institute

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Institutes and Provost's Academic Units

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University Institutes and Centers

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Social Science Research Institute

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Duke Institute for Brain Sciences

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Duke-UNC Center for Brain Imaging and Analysis

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Neurology

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Initiatives

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Duke Science & Society

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Duke Innovation & Entrepreneurship

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Head and Neck Surgery & Communication Sciences

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Pediatrics, Transplant and Cellular Therapy

pubs.publication-status

Published

pubs.volume

104

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