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Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy

Andrew E. Fry Orcid Logo, Christopher Marra, Anna Powell Orcid Logo, Owen Pickrell Orcid Logo, Adam Higgins, Johann te Water Naude, Martin A. McClatchey, Sally J. Davies, Kay A. Metcalfe, Hui Jeen Tan, Rajiv Mohanraj, Shivaram Avula, Denise Williams, Lauren I. Brady, Ronit Mesterman, Mark A. Tarnopolsky, Yuehua Zhang, Ying Yang, Xiaodong Wang, Mark Rees, Mitchell Goldfarb, Seo-Kyung Chung Orcid Logo

The American Journal of Human Genetics, Volume: 108, Issue: 1, Pages: 176 - 185

Swansea University Authors: Anna Powell Orcid Logo, Owen Pickrell Orcid Logo, Adam Higgins, Mark Rees, Seo-Kyung Chung Orcid Logo

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Published in: The American Journal of Human Genetics
ISSN: 0002-9297
Published: Elsevier BV 2021
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URI: https://cronfa.swan.ac.uk/Record/cronfa55790
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spelling 2022-10-06T13:47:18.1526066 v2 55790 2020-11-30 Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy b232c310a6c9458e8669feae92e558a0 0000-0002-8581-5262 Anna Powell Anna Powell true false 1c3044b5ff7a6552ff5e8c9e3901c807 0000-0003-4396-5657 Owen Pickrell Owen Pickrell true false dcf8f9a6c438057bfd13106f82bc082e Adam Higgins Adam Higgins true false 10f39a4e9c2ee00d453cd84c10667ac8 Mark Rees Mark Rees true false d99cbf3a557e9ee66556dfd95d66a5d8 0000-0002-5008-8384 Seo-Kyung Chung Seo-Kyung Chung true false 2020-11-30 BMS Journal Article The American Journal of Human Genetics 108 1 176 185 Elsevier BV 0002-9297 epilepsy; epileptic encephalopathy; FHF2; FGF13; voltage-gated sodium channel; developmental and epileptic encephalopathy; X linked; infantile onset 7 1 2021 2021-01-07 10.1016/j.ajhg.2020.10.017 COLLEGE NANME Biomedical Sciences COLLEGE CODE BMS Swansea University A.E.F., M.I.R., and S.-K.C. were supported by WERN, BRAIN Unit, and Wales Gene Park. WERN was funded by The National Institute of Social Care and Health Research. BRAIN Unit and Wales Gene Park are funded by Health and Care Research Wales. C.M. and M.G. were funded in part by grant R01HL142498 from the National Heart Lung and Blood Institute at the National Institutes of Health.The Wellcome Trust, Cancer Research UK, and the Medical Research Council have also funded research infrastructure. 2022-10-06T13:47:18.1526066 2020-11-30T20:19:09.2266084 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine Andrew E. Fry 0000-0001-9778-6924 1 Christopher Marra 2 Anna Powell 0000-0002-8581-5262 3 Owen Pickrell 0000-0003-4396-5657 4 Adam Higgins 5 Johann te Water Naude 6 Martin A. McClatchey 7 Sally J. Davies 8 Kay A. Metcalfe 9 Hui Jeen Tan 10 Rajiv Mohanraj 11 Shivaram Avula 12 Denise Williams 13 Lauren I. Brady 14 Ronit Mesterman 15 Mark A. Tarnopolsky 16 Yuehua Zhang 17 Ying Yang 18 Xiaodong Wang 19 Mark Rees 20 Mitchell Goldfarb 21 Seo-Kyung Chung 0000-0002-5008-8384 22 55790__19065__f7e2f3e1cf104587a9e82a3dc989aaef.pdf 55790.pdf 2021-01-14T15:19:44.8599420 Output 1322735 application/pdf Accepted Manuscript true 2021-05-26T00:00:00.0000000 ©2020 All rights reserved. All article content, except where otherwise noted, is licensed under a Creative Commons Attribution Non-Commercial No Derivatives License (CC-BY-NC-ND) true eng https://creativecommons.org/licenses/by-nc-nd/4.0/ 37 Owen Pickrell 0000-0003-4396-5657 W.O.Pickrell@Swansea.ac.uk true true
title Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy
spellingShingle Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy
Anna Powell
Owen Pickrell
Adam Higgins
Mark Rees
Seo-Kyung Chung
title_short Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy
title_full Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy
title_fullStr Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy
title_full_unstemmed Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy
title_sort Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy
author_id_str_mv b232c310a6c9458e8669feae92e558a0
1c3044b5ff7a6552ff5e8c9e3901c807
dcf8f9a6c438057bfd13106f82bc082e
10f39a4e9c2ee00d453cd84c10667ac8
d99cbf3a557e9ee66556dfd95d66a5d8
author_id_fullname_str_mv b232c310a6c9458e8669feae92e558a0_***_Anna Powell
1c3044b5ff7a6552ff5e8c9e3901c807_***_Owen Pickrell
dcf8f9a6c438057bfd13106f82bc082e_***_Adam Higgins
10f39a4e9c2ee00d453cd84c10667ac8_***_Mark Rees
d99cbf3a557e9ee66556dfd95d66a5d8_***_Seo-Kyung Chung
author Anna Powell
Owen Pickrell
Adam Higgins
Mark Rees
Seo-Kyung Chung
author2 Andrew E. Fry
Christopher Marra
Anna Powell
Owen Pickrell
Adam Higgins
Johann te Water Naude
Martin A. McClatchey
Sally J. Davies
Kay A. Metcalfe
Hui Jeen Tan
Rajiv Mohanraj
Shivaram Avula
Denise Williams
Lauren I. Brady
Ronit Mesterman
Mark A. Tarnopolsky
Yuehua Zhang
Ying Yang
Xiaodong Wang
Mark Rees
Mitchell Goldfarb
Seo-Kyung Chung
format Journal article
container_title The American Journal of Human Genetics
container_volume 108
container_issue 1
container_start_page 176
publishDate 2021
institution Swansea University
issn 0002-9297
doi_str_mv 10.1016/j.ajhg.2020.10.017
publisher Elsevier BV
college_str Faculty of Medicine, Health and Life Sciences
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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
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published_date 2021-01-07T04:10:15Z
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