De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. (Record no. 23245709)

MARC details
000 -LEADER
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.