De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. (Record no. 23245709)
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fixed length control field | 02892 a2200925 4500 |
005 - DATE AND TIME OF LATEST TRANSACTION | |
control field | 20250516180750.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 201312s 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.2013.09.017 |
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 | Suls, Arvid |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 20131230 |
245 00 - TITLE STATEMENT | |
Title | De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. |
Medium | [electronic resource] |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Name of publisher, distributor, etc. | American journal of human genetics |
Date of publication, distribution, etc. | Nov 2013 |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 967-75 p. |
Other physical details | digital |
500 ## - GENERAL NOTE | |
General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Animals |
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 | Cognition Disorders |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Cohort Studies |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | DNA-Binding Proteins |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Epilepsies, Myoclonic |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Exome |
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 | Gene Knockdown Techniques |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Haploinsufficiency |
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 | Intellectual Disability |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Larva |
General subdivision | genetics |
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 | NAV1.1 Voltage-Gated Sodium Channel |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Phenotype |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Seizures, Febrile |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Young Adult |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Zebrafish |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Jaehn, Johanna A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kecskés, Angela |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Weber, Yvonne |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Weckhuysen, Sarah |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Craiu, Dana C |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Siekierska, Aleksandra |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Djémié, Tania |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Afrikanova, Tatiana |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Gormley, Padhraig |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | von Spiczak, Sarah |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kluger, Gerhard |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Iliescu, Catrinel M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Talvik, Tiina |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Talvik, Inga |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Meral, Cihan |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Caglayan, Hande S |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Giraldez, Beatriz G |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Serratosa, José |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lemke, Johannes R |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Hoffman-Zacharska, Dorota |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Szczepanik, Elzbieta |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Barisic, Nina |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Komarek, Vladimir |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Hjalgrim, Helle |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Møller, Rikke S |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Linnankivi, Tarja |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Dimova, Petia |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Striano, Pasquale |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Zara, Federico |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Marini, Carla |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Guerrini, Renzo |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Depienne, Christel |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Baulac, Stéphanie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kuhlenbäumer, Gregor |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Crawford, Alexander D |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lehesjoki, Anna-Elina |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | de Witte, Peter A M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Palotie, Aarno |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lerche, Holger |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Esguerra, Camila V |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | De Jonghe, Peter |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Helbig, Ingo |
773 0# - HOST ITEM ENTRY | |
Title | American journal of human genetics |
Related parts | vol. 93 |
-- | no. 5 |
-- | p. 967-75 |
856 40 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2013.09.017">https://doi.org/10.1016/j.ajhg.2013.09.017</a> |
Public note | Available from publisher's website |
No items available.