De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Myers, Candace T.; McMahon, Jacinta M.; Schneider, Amy L.; Petrovski, Slavé; Allen, Andrew S.; Carvill, Gemma L.; Zemel, Matthew; Saykally, Julia E.; LaCroix, Amy J.; Heinzen, Erin L.; Hollingsworth, Georgina; Nikanorova, Marina; Corbett, Mark; Gecz, Jozef; Coman, David; Freeman, Jeremy; Calvert, Sophie; Gill, Deepak; Carney, Patrick; Lerman-Sagie, Tally; Sampaio, Hugo; Cossette, Patrick; Delanty, Norman; Dlugos, Dennis; Eichler, Evan E.; Epstein, Michael P.; Glauser, Tracy; Johnson, Michael R.; Kuzniecky, Ruben; Marson, Anthony G.; O’Brien, Terence J.; Ottman, Ruth; Petrou, Stephen; Poduri, Annapurna; Pickrell, Owen; Chung, Seo-Kyung; Rees, Mark; Sherr, Elliott; Sadleir, Lynette G.; Goldstein, David B.; Lowenstein, Daniel H.; Møller, Rikke S.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Mefford, Heather C.

doi:10.1016/j.ajhg.2016.06.003

Journal article 1552 views 157 downloads

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Candace T. Myers, Jacinta M. McMahon, Amy L. Schneider, Slavé Petrovski, Andrew S. Allen, Gemma L. Carvill, Matthew Zemel, Julia E. Saykally, Amy J. LaCroix, Erin L. Heinzen, Georgina Hollingsworth, Marina Nikanorova, Mark Corbett, Jozef Gecz, David Coman, Jeremy Freeman, Sophie Calvert, Deepak Gill, Patrick Carney, Tally Lerman-Sagie, Hugo Sampaio, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E. Eichler, Michael P. Epstein, Tracy Glauser, Michael R. Johnson, Ruben Kuzniecky, Anthony G. Marson, Terence J. O’Brien, Ruth Ottman, Stephen Petrou, Annapurna Poduri, Owen Pickrell

, Seo-Kyung Chung

, Mark Rees, Elliott Sherr, Lynette G. Sadleir, David B. Goldstein, Daniel H. Lowenstein, Rikke S. Møller, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford

The American Journal of Human Genetics, Volume: 99, Issue: 2, Pages: 287 - 298

Swansea University Authors: Owen Pickrell , Seo-Kyung Chung , Mark Rees

PDF | Accepted Manuscript

Released under the terms of a Creative Commons Attribution Non-Commercial No Derivatives License (CC-BY-NC-ND).
Download (348.3KB)

Check full text

DOI (Published version): 10.1016/j.ajhg.2016.06.003

Published in:	The American Journal of Human Genetics
ISSN:	0002-9297
Published:	Elsevier BV 2016
Online Access:	Check full text
URI:	https://cronfa.swan.ac.uk/Record/cronfa29412
Tags:	Add Tag No Tags, Be the first to tag this record!

first_indexed	2016-08-02T19:01:24Z
last_indexed	2020-08-06T02:48:09Z
id	cronfa29412
recordtype	SURis
fullrecord	<?xml version="1.0"?><rfc1807><datestamp>2020-08-05T14:51:22.9480778</datestamp><bib-version>v2</bib-version><id>29412</id><entry>2016-08-02</entry><title>De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies</title><swanseaauthors><author><sid>1c3044b5ff7a6552ff5e8c9e3901c807</sid><ORCID>0000-0003-4396-5657</ORCID><firstname>Owen</firstname><surname>Pickrell</surname><name>Owen Pickrell</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><author><sid>10f39a4e9c2ee00d453cd84c10667ac8</sid><ORCID/><firstname>Mark</firstname><surname>Rees</surname><name>Mark Rees</name><active>true</active><ethesisStudent>false</ethesisStudent></author></swanseaauthors><date>2016-08-02</date><deptcode>FGMHL</deptcode><abstract/><type>Journal Article</type><journal>The American Journal of Human Genetics</journal><volume>99</volume><journalNumber>2</journalNumber><paginationStart>287</paginationStart><paginationEnd>298</paginationEnd><publisher>Elsevier BV</publisher><issnPrint>0002-9297</issnPrint><keywords/><publishedDay>4</publishedDay><publishedMonth>8</publishedMonth><publishedYear>2016</publishedYear><publishedDate>2016-08-04</publishedDate><doi>10.1016/j.ajhg.2016.06.003</doi><url/><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>2020-08-05T14:51:22.9480778</lastEdited><Created>2016-08-02T15:47:57.7335620</Created><path><level id="1">Faculty of Medicine, Health and Life Sciences</level><level id="2">Swansea University Medical School - Medicine</level></path><authors><author><firstname>Candace T.</firstname><surname>Myers</surname><order>1</order></author><author><firstname>Jacinta M.</firstname><surname>McMahon</surname><order>2</order></author><author><firstname>Amy L.</firstname><surname>Schneider</surname><order>3</order></author><author><firstname>Slavé</firstname><surname>Petrovski</surname><order>4</order></author><author><firstname>Andrew S.</firstname><surname>Allen</surname><order>5</order></author><author><firstname>Gemma L.</firstname><surname>Carvill</surname><order>6</order></author><author><firstname>Matthew</firstname><surname>Zemel</surname><order>7</order></author><author><firstname>Julia E.</firstname><surname>Saykally</surname><order>8</order></author><author><firstname>Amy J.</firstname><surname>LaCroix</surname><order>9</order></author><author><firstname>Erin L.</firstname><surname>Heinzen</surname><order>10</order></author><author><firstname>Georgina</firstname><surname>Hollingsworth</surname><order>11</order></author><author><firstname>Marina</firstname><surname>Nikanorova</surname><order>12</order></author><author><firstname>Mark</firstname><surname>Corbett</surname><order>13</order></author><author><firstname>Jozef</firstname><surname>Gecz</surname><order>14</order></author><author><firstname>David</firstname><surname>Coman</surname><order>15</order></author><author><firstname>Jeremy</firstname><surname>Freeman</surname><order>16</order></author><author><firstname>Sophie</firstname><surname>Calvert</surname><order>17</order></author><author><firstname>Deepak</firstname><surname>Gill</surname><order>18</order></author><author><firstname>Patrick</firstname><surname>Carney</surname><order>19</order></author><author><firstname>Tally</firstname><surname>Lerman-Sagie</surname><order>20</order></author><author><firstname>Hugo</firstname><surname>Sampaio</surname><order>21</order></author><author><firstname>Patrick</firstname><surname>Cossette</surname><order>22</order></author><author><firstname>Norman</firstname><surname>Delanty</surname><order>23</order></author><author><firstname>Dennis</firstname><surname>Dlugos</surname><order>24</order></author><author><firstname>Evan E.</firstname><surname>Eichler</surname><order>25</order></author><author><firstname>Michael P.</firstname><surname>Epstein</surname><order>26</order></author><author><firstname>Tracy</firstname><surname>Glauser</surname><order>27</order></author><author><firstname>Michael R.</firstname><surname>Johnson</surname><order>28</order></author><author><firstname>Ruben</firstname><surname>Kuzniecky</surname><order>29</order></author><author><firstname>Anthony G.</firstname><surname>Marson</surname><order>30</order></author><author><firstname>Terence J.</firstname><surname>O’Brien</surname><order>31</order></author><author><firstname>Ruth</firstname><surname>Ottman</surname><order>32</order></author><author><firstname>Stephen</firstname><surname>Petrou</surname><order>33</order></author><author><firstname>Annapurna</firstname><surname>Poduri</surname><order>34</order></author><author><firstname>Owen</firstname><surname>Pickrell</surname><orcid>0000-0003-4396-5657</orcid><order>35</order></author><author><firstname>Seo-Kyung</firstname><surname>Chung</surname><orcid>0000-0002-5008-8384</orcid><order>36</order></author><author><firstname>Mark</firstname><surname>Rees</surname><orcid/><order>37</order></author><author><firstname>Elliott</firstname><surname>Sherr</surname><order>38</order></author><author><firstname>Lynette G.</firstname><surname>Sadleir</surname><order>39</order></author><author><firstname>David B.</firstname><surname>Goldstein</surname><order>40</order></author><author><firstname>Daniel H.</firstname><surname>Lowenstein</surname><order>41</order></author><author><firstname>Rikke S.</firstname><surname>Møller</surname><order>42</order></author><author><firstname>Samuel F.</firstname><surname>Berkovic</surname><order>43</order></author><author><firstname>Ingrid E.</firstname><surname>Scheffer</surname><order>44</order></author><author><firstname>Heather C.</firstname><surname>Mefford</surname><order>45</order></author></authors><documents><document><filename>0029412-04112016115320.pdf</filename><originalFilename>Epi4K_AJHG_D_16_00171_R2_FINAL_23may2016v2.pdf</originalFilename><uploaded>2016-11-04T11:53:20.8470000</uploaded><type>Output</type><contentLength>323645</contentLength><contentType>application/pdf</contentType><version>Accepted Manuscript</version><cronfaStatus>true</cronfaStatus><embargoDate>2017-01-28T00:00:00.0000000</embargoDate><documentNotes>Released under the terms of a Creative Commons Attribution Non-Commercial No Derivatives License (CC-BY-NC-ND).</documentNotes><copyrightCorrect>true</copyrightCorrect><language>eng</language></document></documents><OutputDurs/></rfc1807>
spelling	2020-08-05T14:51:22.9480778 v2 29412 2016-08-02 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies 1c3044b5ff7a6552ff5e8c9e3901c807 0000-0003-4396-5657 Owen Pickrell Owen Pickrell true false d99cbf3a557e9ee66556dfd95d66a5d8 0000-0002-5008-8384 Seo-Kyung Chung Seo-Kyung Chung true false 10f39a4e9c2ee00d453cd84c10667ac8 Mark Rees Mark Rees true false 2016-08-02 FGMHL Journal Article The American Journal of Human Genetics 99 2 287 298 Elsevier BV 0002-9297 4 8 2016 2016-08-04 10.1016/j.ajhg.2016.06.003 COLLEGE NANME Medicine, Health and Life Science - Faculty COLLEGE CODE FGMHL Swansea University 2020-08-05T14:51:22.9480778 2016-08-02T15:47:57.7335620 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine Candace T. Myers 1 Jacinta M. McMahon 2 Amy L. Schneider 3 Slavé Petrovski 4 Andrew S. Allen 5 Gemma L. Carvill 6 Matthew Zemel 7 Julia E. Saykally 8 Amy J. LaCroix 9 Erin L. Heinzen 10 Georgina Hollingsworth 11 Marina Nikanorova 12 Mark Corbett 13 Jozef Gecz 14 David Coman 15 Jeremy Freeman 16 Sophie Calvert 17 Deepak Gill 18 Patrick Carney 19 Tally Lerman-Sagie 20 Hugo Sampaio 21 Patrick Cossette 22 Norman Delanty 23 Dennis Dlugos 24 Evan E. Eichler 25 Michael P. Epstein 26 Tracy Glauser 27 Michael R. Johnson 28 Ruben Kuzniecky 29 Anthony G. Marson 30 Terence J. O’Brien 31 Ruth Ottman 32 Stephen Petrou 33 Annapurna Poduri 34 Owen Pickrell 0000-0003-4396-5657 35 Seo-Kyung Chung 0000-0002-5008-8384 36 Mark Rees 37 Elliott Sherr 38 Lynette G. Sadleir 39 David B. Goldstein 40 Daniel H. Lowenstein 41 Rikke S. Møller 42 Samuel F. Berkovic 43 Ingrid E. Scheffer 44 Heather C. Mefford 45 0029412-04112016115320.pdf Epi4K_AJHG_D_16_00171_R2_FINAL_23may2016v2.pdf 2016-11-04T11:53:20.8470000 Output 323645 application/pdf Accepted Manuscript true 2017-01-28T00:00:00.0000000 Released under the terms of a Creative Commons Attribution Non-Commercial No Derivatives License (CC-BY-NC-ND). true eng
title	De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
spellingShingle	De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies Owen Pickrell Seo-Kyung Chung Mark Rees
title_short	De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
title_full	De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
title_fullStr	De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
title_full_unstemmed	De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
title_sort	De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
author_id_str_mv	1c3044b5ff7a6552ff5e8c9e3901c807 d99cbf3a557e9ee66556dfd95d66a5d8 10f39a4e9c2ee00d453cd84c10667ac8
author_id_fullname_str_mv	1c3044b5ff7a6552ff5e8c9e3901c807_*_Owen Pickrell d99cbf3a557e9ee66556dfd95d66a5d8__Seo-Kyung Chung 10f39a4e9c2ee00d453cd84c10667ac8_**_Mark Rees
author	Owen Pickrell Seo-Kyung Chung Mark Rees
author2	Candace T. Myers Jacinta M. McMahon Amy L. Schneider Slavé Petrovski Andrew S. Allen Gemma L. Carvill Matthew Zemel Julia E. Saykally Amy J. LaCroix Erin L. Heinzen Georgina Hollingsworth Marina Nikanorova Mark Corbett Jozef Gecz David Coman Jeremy Freeman Sophie Calvert Deepak Gill Patrick Carney Tally Lerman-Sagie Hugo Sampaio Patrick Cossette Norman Delanty Dennis Dlugos Evan E. Eichler Michael P. Epstein Tracy Glauser Michael R. Johnson Ruben Kuzniecky Anthony G. Marson Terence J. O’Brien Ruth Ottman Stephen Petrou Annapurna Poduri Owen Pickrell Seo-Kyung Chung Mark Rees Elliott Sherr Lynette G. Sadleir David B. Goldstein Daniel H. Lowenstein Rikke S. Møller Samuel F. Berkovic Ingrid E. Scheffer Heather C. Mefford
format	Journal article
container_title	The American Journal of Human Genetics
container_volume	99
container_issue	2
container_start_page	287
publishDate	2016
institution	Swansea University
issn	0002-9297
doi_str_mv	10.1016/j.ajhg.2016.06.003
publisher	Elsevier BV
college_str	Faculty of Medicine, Health and Life Sciences
hierarchytype
hierarchy_top_id	facultyofmedicinehealthandlifesciences
hierarchy_top_title	Faculty of Medicine, Health and Life Sciences
hierarchy_parent_id	facultyofmedicinehealthandlifesciences
hierarchy_parent_title	Faculty of Medicine, Health and Life Sciences
department_str	Swansea University Medical School - Medicine{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}Swansea University Medical School - Medicine
document_store_str	1
active_str	0
published_date	2016-08-04T03:35:46Z
_version_	1763751542034268160
score	11.013395

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Similar Items