Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation. (Record no. 23893822)

MARC details
000 -LEADER
fixed length control field 01441 a2200409 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516215232.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201409s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1528-1167
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/epi.12663
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 Venkateswaran, Sunita
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20140922
245 00 - TITLE STATEMENT
Title Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Epilepsia
Date of publication, distribution, etc. Jul 2014
300 ## - PHYSICAL DESCRIPTION
Extent e75-9 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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 Developmental Disabilities
General subdivision complications
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Epilepsy
General subdivision complications
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome
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 Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation, Missense
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptors, N-Methyl-D-Aspartate
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Severity of Illness Index
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Myers, Ken A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Smith, Amanda C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Beaulieu, Chandree L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schwartzentruber, Jeremy A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Majewski, Jacek
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bulman, Dennis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boycott, Kym M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dyment, David A
773 0# - HOST ITEM ENTRY
Title Epilepsia
Related parts vol. 55
-- no. 7
-- p. e75-9
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/epi.12663">https://doi.org/10.1111/epi.12663</a>
Public note Available from publisher's website

No items available.