De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. (Record no. 28961504)

MARC details
000 -LEADER
fixed length control field 04845 a2201633 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518003543.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201905s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1537-6605
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ajhg.2018.09.006
Source of number or code doi
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Helbig, Katherine L
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20190514
245 00 - TITLE STATEMENT
Title De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. 11 2018
300 ## - PHYSICAL DESCRIPTION
Extent 666-678 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adolescent
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Calcium Channels, R-Type
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cation Transport Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Contracture
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Dyskinesias
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Epilepsy
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Variation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Megalencephaly
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neurodevelopmental Disorders
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Spasms, Infantile
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lauerer, Robert J
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Personal name Bahr, Jacqueline C
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Personal name Souza, Ivana A
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Personal name Myers, Candace T
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Personal name Uysal, Betül
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Personal name Schwarz, Niklas
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Personal name Gandini, Maria A
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Personal name Huang, Sun
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Personal name Keren, Boris
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Personal name Mignot, Cyril
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Personal name Afenjar, Alexandra
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Personal name Billette de Villemeur, Thierry
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Personal name Héron, Delphine
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Personal name Nava, Caroline
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Personal name Valence, Stéphanie
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Personal name Buratti, Julien
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Personal name Fagerberg, Christina R
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Personal name Soerensen, Kristina P
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Personal name Kibaek, Maria
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Personal name Kamsteeg, Erik-Jan
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Personal name Koolen, David A
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Personal name Gunning, Boudewijn
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Personal name Schelhaas, H Jurgen
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Personal name Kruer, Michael C
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Personal name Fox, Jordana
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Personal name Bakhtiari, Somayeh
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Personal name Jarrar, Randa
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Personal name Padilla-Lopez, Sergio
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Personal name Jin, Sheng Chih
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Personal name Zeng, Xue
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Personal name Bilguvar, Kaya
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Personal name Papavasileiou, Antigone
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Personal name Xing, Qinghe
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Personal name Zhu, Changlian
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Personal name Boysen, Katja
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Personal name Vairo, Filippo
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Personal name Lanpher, Brendan C
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Personal name Cousin, Margot A
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Personal name Kruisselbrink, Teresa M
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Personal name Wick, Myra J
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Personal name Baker, Joshua
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Personal name Haan, Eric
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Personal name Smith, Nicholas
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Personal name Davis, Erica E
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Personal name Katsanis, Nicholas
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Personal name Corbett, Mark A
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Personal name Rodan, Lance H
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Personal name Kichula, Elizabeth
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Personal name Segal, Eric
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Personal name Jackson, Kelly E
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Personal name Asamoah, Alexander
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Personal name Dimmock, David
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Personal name McCarrier, Julie
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Personal name Botto, Lorenzo D
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Personal name Tvrdik, Tatiana
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Personal name Cascino, Gregory D
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Personal name Klingerman, Sherry
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Personal name Neumann, Catherine
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Personal name Wang, Raymond
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Personal name Jacobsen, Jessie C
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Personal name Nolan, Melinda A
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Personal name Snell, Russell G
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Personal name Lehnert, Klaus
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Personal name Sadleir, Lynette G
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Personal name Anderlid, Britt-Marie
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Personal name Kvarnung, Malin
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Personal name Guerrini, Renzo
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Personal name Friez, Michael J
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Personal name Lyons, Michael J
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Personal name Leonhard, Jennifer
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Personal name Kringlen, Gabriel
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Personal name Casas, Kari
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Personal name El Achkar, Christelle M
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Personal name Smith, Lacey A
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Personal name Rotenberg, Alexander
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Personal name Poduri, Annapurna
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Personal name Sanchis-Juan, Alba
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Personal name Carss, Keren J
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Personal name Rankin, Julia
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Personal name Zeman, Adam
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Personal name Raymond, F Lucy
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Personal name Blyth, Moira
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Personal name Kerr, Bronwyn
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Personal name Ruiz, Karla
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Personal name Urquhart, Jill
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Personal name Hughes, Imelda
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Personal name Banka, Siddharth
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Personal name Hedrich, Ulrike B S
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Personal name Scheffer, Ingrid E
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Personal name Helbig, Ingo
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Personal name Zamponi, Gerald W
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Personal name Lerche, Holger
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Personal name Mefford, Heather C
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 103
-- no. 5
-- p. 666-678
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2018.09.006">https://doi.org/10.1016/j.ajhg.2018.09.006</a>
Public note Available from publisher's website

No items available.