Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA. (Record no. 29948113)

MARC details
000 -LEADER
fixed length control field 01708 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518052405.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 202005s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 2328-9503
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/acn3.50815
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 Lee, Wei Shern
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20200513
245 00 - TITLE STATEMENT
Title Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Annals of clinical and translational neurology
Date of publication, distribution, etc. 07 2019
300 ## - PHYSICAL DESCRIPTION
Extent 1338-1344 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 Brain
General subdivision diagnostic imaging
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cerebral Cortex
General subdivision diagnostic imaging
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 Drug Resistant Epilepsy
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element GTPase-Activating Proteins
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Malformations of Cortical Development
General subdivision diagnostic imaging
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neurons
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element TOR Serine-Threonine Kinases
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stephenson, Sarah E M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Howell, Katherine B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pope, Kate
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gillies, Greta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wray, Alison
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Maixner, Wirginia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mandelstam, Simone A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Berkovic, Samuel F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Scheffer, Ingrid E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name MacGregor, Duncan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Harvey, Anthony Simon
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lockhart, Paul J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Leventer, Richard J
773 0# - HOST ITEM ENTRY
Title Annals of clinical and translational neurology
Related parts vol. 6
-- no. 7
-- p. 1338-1344
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/acn3.50815">https://doi.org/10.1002/acn3.50815</a>
Public note Available from publisher's website

No items available.