KCNQ2- and KCNQ3-associated epilepsy / (Record no. 10598)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02444nam a2200373 i 4500 |
| 001 - CONTROL NUMBER | |
| control field | CR9781009278270 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | UkCbUP |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20260610102102.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr|||||||||||| |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 220317s2022||||enk o ||1 0|eng|d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781009278270 (ebook) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| Canceled/invalid ISBN | 9781009278263 (paperback) |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | UkCbUP |
| Language of cataloging | eng |
| Description conventions | rda |
| Transcribing agency | UkCbUP |
| 050 04 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RC373 |
| Item number | .K34 2022 |
| 082 00 - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 616.85/3 |
| Edition information | 23/eng/20220914 |
| 245 00 - TITLE STATEMENT | |
| Title | KCNQ2- and KCNQ3-associated epilepsy / |
| Statement of responsibility, etc. | edited by Sarah Weckhuysen, Alfred L. George. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Place of production, publication, distribution, manufacture | Cambridge : |
| Name of producer, publisher, distributor, manufacturer | Cambridge University Press, |
| Date of production, publication, distribution, manufacture, or copyright notice | 2022. |
| 300 ## - online resource | |
| Extent | 1 online resource (99 pages) : |
| Other physical details | digital, PDF file(s). |
| 336 ## - CONTENT TYPE | |
| Content type term | text |
| Content type code | txt |
| Source | rdacontent |
| 337 ## - MEDIA TYPE | |
| Media type term | computer |
| Media type code | c |
| Source | rdamedia |
| 338 ## - CARRIER TYPE | |
| Carrier type term | online resource |
| Carrier type code | cr |
| Source | rdacarrier |
| 490 1# - SERIES STATEMENT | |
| Series statement | Cambridge elements. Elements in genetics in epilepsy, |
| International Standard Serial Number | 2633-2086 |
| 500 ## - GENERAL NOTE | |
| General note | Title from publisher's bibliographic system (viewed on 10 Nov 2022). |
| 506 0# - RESTRICTIONS ON ACCESS NOTE | |
| Terms governing access | Open Access. |
| Standardized terminology for access restriction | Unrestricted online access |
| Source of term | star |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Patient, family and foundation perspectives -- Basic science of KCNQ2 and KCNQ3 -- Genotype-phenotype correlations -- Treatment of KCNQ2-associated epilepsies. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | KCNQ2 and KCNQ3 encode subunits (KV7.2, KV7.3) that combine to form a voltage-gated potassium ion (K+) channel responsible for generating an ionic current (M-current) important for controlling activity in the nervous system. Pathogenic variants in both genes are associated with a spectrum of genetic neurological disorders that feature epilepsy of variable severity and can be accompanied by debilitating impaired neurodevelopment. These two genes were among the first discovered causes of monogenic epilepsy, and are frequently identified in persons with early-life epilepsy. This Element provides a comprehensive review of the clinical features, genetic basis, pathophysiology, pharmacology and treatment of these prototypical neurological disorders accompanied by perspectives shared by affected families and scientists who have made seminal contributions to the field. This title is also available as Open Access on Cambridge Core. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsy |
| General subdivision | Diagnosis. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weckhuysen, Sarah, |
| Relator term | editor. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | George, Alfred L., |
| Relator term | editor. |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Print version: |
| International Standard Book Number | 9781009278263 |
| 830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE | |
| Uniform title | Elements in genetics in epilepsy, |
| International Standard Serial Number | 2633-2086. |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1017/9781009278270">https://doi.org/10.1017/9781009278270</a> |
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