De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. (Record no. 28961504)
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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 |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bahr, Jacqueline C |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Souza, Ivana A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Myers, Candace T |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Uysal, Betül |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Schwarz, Niklas |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Gandini, Maria A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Huang, Sun |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Keren, Boris |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Mignot, Cyril |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Afenjar, Alexandra |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Billette de Villemeur, Thierry |
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Personal name | Héron, Delphine |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Nava, Caroline |
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Personal name | Valence, Stéphanie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Buratti, Julien |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Fagerberg, Christina R |
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Personal name | Soerensen, Kristina P |
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Personal name | Kibaek, Maria |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kamsteeg, Erik-Jan |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Koolen, David A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Gunning, Boudewijn |
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Personal name | Schelhaas, H Jurgen |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kruer, Michael C |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Fox, Jordana |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bakhtiari, Somayeh |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Jarrar, Randa |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Padilla-Lopez, Sergio |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lindstrom, Kristin |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Jin, Sheng Chih |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Zeng, Xue |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bilguvar, Kaya |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Papavasileiou, Antigone |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Xing, Qinghe |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Zhu, Changlian |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Boysen, Katja |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Vairo, Filippo |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lanpher, Brendan C |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Klee, Eric W |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Tillema, Jan-Mendelt |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Payne, Eric T |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Cousin, Margot A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kruisselbrink, Teresa M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Wick, Myra J |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Baker, Joshua |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Haan, Eric |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Smith, Nicholas |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Sadeghpour, Azita |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Davis, Erica E |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Katsanis, Nicholas |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Corbett, Mark A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | MacLennan, Alastair H |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Gecz, Jozef |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Biskup, Saskia |
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Personal name | Goldmann, Eva |
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Personal name | Rodan, Lance H |
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Personal name | Kichula, Elizabeth |
700 1# - ADDED ENTRY--PERSONAL NAME | |
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 |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Botto, Lorenzo D |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Filloux, Francis |
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Personal name | Tvrdik, Tatiana |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Cascino, Gregory D |
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Personal name | Klingerman, Sherry |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Neumann, Catherine |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Wang, Raymond |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Jacobsen, Jessie C |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Nolan, Melinda A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Snell, Russell G |
700 1# - ADDED ENTRY--PERSONAL NAME | |
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 | Friez, Michael J |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lyons, Michael J |
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Personal name | Leonhard, Jennifer |
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Personal name | Kringlen, Gabriel |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Casas, Kari |
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Personal name | El Achkar, Christelle M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Smith, Lacey A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
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 |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Rankin, Julia |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Zeman, Adam |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Raymond, F Lucy |
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Personal name | Blyth, Moira |
700 1# - ADDED ENTRY--PERSONAL NAME | |
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 |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Helbig, Ingo |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Zamponi, Gerald W |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lerche, Holger |
700 1# - ADDED ENTRY--PERSONAL NAME | |
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.