Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. (Record no. 30665428)

MARC details
000 -LEADER
fixed length control field 02891 a2200913 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518085600.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 202010s 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.16438
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 Brunklaus, Andreas
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20201019
245 00 - TITLE STATEMENT
Title Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Epilepsia
Date of publication, distribution, etc. 03 2020
300 ## - PHYSICAL DESCRIPTION
Extent 387-399 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 Age of Onset
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Autism Spectrum Disorder
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 Codon, Nonsense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Copy Number Variations
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Electroencephalography
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Epileptic Syndromes
General subdivision drug therapy
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 Gain of Function Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Deletion
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Duplication
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Expression
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Expression Regulation, Developmental
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genotype
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 Infant, Newborn
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Loss of Function Mutation
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 Mutation, Missense
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 NAV1.2 Voltage-Gated Sodium Channel
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element NAV1.3 Voltage-Gated Sodium Channel
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element NAV1.6 Voltage-Gated Sodium Channel
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 Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sodium Channel Blockers
General subdivision therapeutic use
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sodium Channels
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Du, Juanjiangmeng
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Steckler, Felix
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ghanty, Ismael I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Johannesen, Katrine M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fenger, Christina Dühring
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schorge, Stephanie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Baez-Nieto, David
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wang, Hao-Ran
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Allen, Andrew
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pan, Jen Q
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lerche, Holger
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Heyne, Henrike
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Symonds, Joseph D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zuberi, Sameer M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sanders, Stephan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sheidley, Beth R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Craiu, Dana
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Olson, Heather E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Weckhuysen, Sarah
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name DeJonge, Peter
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Helbig, Ingo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Van Esch, Hilde
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Busa, Tiffany
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Milh, Matthieu
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Isidor, Bertrand
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Depienne, Christel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Poduri, Annapurna
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Campbell, Arthur J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dimidschstein, Jordane
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Møller, Rikke S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lal, Dennis
773 0# - HOST ITEM ENTRY
Title Epilepsia
Related parts vol. 61
-- no. 3
-- p. 387-399
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/epi.16438">https://doi.org/10.1111/epi.16438</a>
Public note Available from publisher's website

No items available.