A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. (Record no. 14952661)

MARC details
000 -LEADER
fixed length control field 02158 a2200685 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514193625.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200412s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1526-632X
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1212/01.wnl.0000132979.08394.6d
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 Borgatti, R
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20041221
245 00 - TITLE STATEMENT
Title A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Neurology
Date of publication, distribution, etc. Jul 2004
300 ## - PHYSICAL DESCRIPTION
Extent 57-65 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 Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Sequence
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 Animals
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Anticonvulsants
General subdivision pharmacology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element CHO Cells
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cricetinae
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cricetulus
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Drug Resistance
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Epilepsies, Partial
General subdivision drug therapy
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Epilepsy, Benign Neonatal
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 Humans
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 Intellectual Disability
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Ion Channel Gating
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Ion Transport
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element KCNQ2 Potassium Channel
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Magnetic Resonance Imaging
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 Molecular Sequence Data
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 Pedigree
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 Point Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Potassium Channels, Voltage-Gated
General subdivision chemistry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Conformation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Subunits
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Quadriplegia
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Structure-Activity Relationship
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zucca, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cavallini, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ferrario, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Panzeri, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Castaldo, P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Soldovieri, M V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Baschirotto, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bresolin, N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dalla Bernardina, B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Taglialatela, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bassi, M T
773 0# - HOST ITEM ENTRY
Title Neurology
Related parts vol. 63
-- no. 1
-- p. 57-65
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1212/01.wnl.0000132979.08394.6d">https://doi.org/10.1212/01.wnl.0000132979.08394.6d</a>
Public note Available from publisher's website

No items available.