No Cover Image

Journal article 779 views

Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.

F. Hmami, S.E. Wood, S. Chaouki, A. Oulmaati, M. Hida, M.I. Rees, S.K. Chung, A. Bouharrou, Mark Rees, Seo-Kyung Chung Orcid Logo

Epileptic Disorders, Volume: 16, Issue: 3, Pages: 354 - 357

Swansea University Authors: Mark Rees, Seo-Kyung Chung Orcid Logo

Full text not available from this repository: check for access using links below.

DOI (Published version): 10.1684/epd.2014.0663

Published in: Epileptic Disorders
Published: 2014
URI: https://cronfa.swan.ac.uk/Record/cronfa20048
Tags: Add Tag
No Tags, Be the first to tag this record!
first_indexed 2015-01-23T02:58:30Z
last_indexed 2018-02-09T04:56:09Z
id cronfa20048
recordtype SURis
fullrecord <?xml version="1.0"?><rfc1807><datestamp>2015-05-04T16:57:21.6677712</datestamp><bib-version>v2</bib-version><id>20048</id><entry>2015-01-22</entry><title>Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.</title><swanseaauthors><author><sid>10f39a4e9c2ee00d453cd84c10667ac8</sid><firstname>Mark</firstname><surname>Rees</surname><name>Mark Rees</name><active>true</active><ethesisStudent>false</ethesisStudent></author><author><sid>d99cbf3a557e9ee66556dfd95d66a5d8</sid><ORCID>0000-0002-5008-8384</ORCID><firstname>Seo-Kyung</firstname><surname>Chung</surname><name>Seo-Kyung Chung</name><active>true</active><ethesisStudent>false</ethesisStudent></author></swanseaauthors><date>2015-01-22</date><deptcode>FGMHL</deptcode><abstract></abstract><type>Journal Article</type><journal>Epileptic Disorders</journal><volume>16</volume><journalNumber>3</journalNumber><paginationStart>354</paginationStart><paginationEnd>357</paginationEnd><publisher/><keywords/><publishedDay>31</publishedDay><publishedMonth>12</publishedMonth><publishedYear>2014</publishedYear><publishedDate>2014-12-31</publishedDate><doi>10.1684/epd.2014.0663</doi><url/><notes></notes><college>COLLEGE NANME</college><department>Medicine, Health and Life Science - Faculty</department><CollegeCode>COLLEGE CODE</CollegeCode><DepartmentCode>FGMHL</DepartmentCode><institution>Swansea University</institution><apcterm/><lastEdited>2015-05-04T16:57:21.6677712</lastEdited><Created>2015-01-22T10:30:02.2673795</Created><path><level id="1">Swansea University Medical School</level><level id="2">Medicine</level></path><authors><author><firstname>F.</firstname><surname>Hmami</surname><order>1</order></author><author><firstname>S.E.</firstname><surname>Wood</surname><order>2</order></author><author><firstname>S.</firstname><surname>Chaouki</surname><order>3</order></author><author><firstname>A.</firstname><surname>Oulmaati</surname><order>4</order></author><author><firstname>M.</firstname><surname>Hida</surname><order>5</order></author><author><firstname>M.I.</firstname><surname>Rees</surname><order>6</order></author><author><firstname>S.K.</firstname><surname>Chung</surname><order>7</order></author><author><firstname>A.</firstname><surname>Bouharrou</surname><order>8</order></author><author><firstname>Mark</firstname><surname>Rees</surname><order>9</order></author><author><firstname>Seo-Kyung</firstname><surname>Chung</surname><orcid>0000-0002-5008-8384</orcid><order>10</order></author></authors><documents/><OutputDurs/></rfc1807>
spelling 2015-05-04T16:57:21.6677712 v2 20048 2015-01-22 Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1. 10f39a4e9c2ee00d453cd84c10667ac8 Mark Rees Mark Rees true false d99cbf3a557e9ee66556dfd95d66a5d8 0000-0002-5008-8384 Seo-Kyung Chung Seo-Kyung Chung true false 2015-01-22 FGMHL Journal Article Epileptic Disorders 16 3 354 357 31 12 2014 2014-12-31 10.1684/epd.2014.0663 COLLEGE NANME Medicine, Health and Life Science - Faculty COLLEGE CODE FGMHL Swansea University 2015-05-04T16:57:21.6677712 2015-01-22T10:30:02.2673795 Swansea University Medical School Medicine F. Hmami 1 S.E. Wood 2 S. Chaouki 3 A. Oulmaati 4 M. Hida 5 M.I. Rees 6 S.K. Chung 7 A. Bouharrou 8 Mark Rees 9 Seo-Kyung Chung 0000-0002-5008-8384 10
title Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.
spellingShingle Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.
Mark Rees
Seo-Kyung Chung
title_short Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.
title_full Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.
title_fullStr Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.
title_full_unstemmed Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.
title_sort Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.
author_id_str_mv 10f39a4e9c2ee00d453cd84c10667ac8
d99cbf3a557e9ee66556dfd95d66a5d8
author_id_fullname_str_mv 10f39a4e9c2ee00d453cd84c10667ac8_***_Mark Rees
d99cbf3a557e9ee66556dfd95d66a5d8_***_Seo-Kyung Chung
author Mark Rees
Seo-Kyung Chung
author2 F. Hmami
S.E. Wood
S. Chaouki
A. Oulmaati
M. Hida
M.I. Rees
S.K. Chung
A. Bouharrou
Mark Rees
Seo-Kyung Chung
format Journal article
container_title Epileptic Disorders
container_volume 16
container_issue 3
container_start_page 354
publishDate 2014
institution Swansea University
doi_str_mv 10.1684/epd.2014.0663
college_str Swansea University Medical School
hierarchytype
hierarchy_top_id swanseauniversitymedicalschool
hierarchy_top_title Swansea University Medical School
hierarchy_parent_id swanseauniversitymedicalschool
hierarchy_parent_title Swansea University Medical School
department_str Medicine{{{_:::_}}}Swansea University Medical School{{{_:::_}}}Medicine
document_store_str 0
active_str 0
published_date 2014-12-31T03:30:16Z
_version_ 1737025091690037248
score 10.917908