Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. (Record no. 25840903)

MARC details
000 -LEADER
fixed length control field 02047 a2200649 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517084823.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201608s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1932-6203
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1371/journal.pone.0150426
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 Lal, Dennis
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20160801
245 00 - TITLE STATEMENT
Title Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. PloS one
Date of publication, distribution, etc. 2016
300 ## - PHYSICAL DESCRIPTION
Extent e0150426 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Clinical Trial; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Substitution
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Case-Control Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Epilepsy
General subdivision epidemiology
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 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 Risk Factors
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Syndrome
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Reinthaler, Eva M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dejanovic, Borislav
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name May, Patrick
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thiele, Holger
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lehesjoki, Anna-Elina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schwarz, Günter
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Riesch, Erik
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ikram, M Arfan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Duijn, Cornelia M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Uitterlinden, Andre G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hofman, Albert
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Steinböck, Hannelore
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gruber-Sedlmayr, Ursula
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Neophytou, Birgit
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zara, Federico
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hahn, Andreas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gormley, Padhraig
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Becker, Felicitas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Weber, Yvonne G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cilio, Maria Roberta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kunz, Wolfram S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Krause, Roland
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zimprich, Fritz
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lemke, Johannes R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nürnberg, Peter
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sander, Thomas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lerche, Holger
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Neubauer, Bernd A
773 0# - HOST ITEM ENTRY
Title PloS one
Related parts vol. 11
-- no. 3
-- p. e0150426
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1371/journal.pone.0150426">https://doi.org/10.1371/journal.pone.0150426</a>
Public note Available from publisher's website

No items available.