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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 
,
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
,
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
The American Journal of Human Genetics, Volume: 108, Issue: 1, Pages: 176 - 185
Swansea University Authors:
Anna Powell , Owen Pickrell , Adam Higgins, Mark Rees, Seo-Kyung Chung
-
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©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)
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DOI (Published version): 10.1016/j.ajhg.2020.10.017
Abstract
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy
| 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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2020-11-30T20:26:27Z |
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2023-01-11T14:34:35Z |
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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 |
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The American Journal of Human Genetics |
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176 |
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2021 |
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0002-9297 |
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10.1016/j.ajhg.2020.10.017 |
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Elsevier BV |
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Faculty of Medicine, Health and Life Sciences |
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