Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus. (Record no. 28356717)

MARC details
000 -LEADER
fixed length control field 01524 a2200469 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517213856.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201906s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1098-1004
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/humu.23547
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 Wagnon, Jacy L
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20190614
245 00 - TITLE STATEMENT
Title Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. 07 2018
300 ## - PHYSICAL DESCRIPTION
Extent 965-969 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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 Epilepsy
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 Heterozygote
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 Loss of Function Mutation
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 Middle Aged
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 Myoclonus
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 Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Seizures
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mencacci, Niccolò E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Barker, Bryan S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wengert, Eric R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bhatia, Kailash P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Balint, Bettina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Carecchio, Miryam
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wood, Nicholas W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Patel, Manoj K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Meisler, Miriam H
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 39
-- no. 7
-- p. 965-969
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/humu.23547">https://doi.org/10.1002/humu.23547</a>
Public note Available from publisher's website

No items available.