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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
,
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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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 |
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| ISSN: | 0002-9297 |
| Published: |
Elsevier BV
2021
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| Online Access: |
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| URI: | https://cronfa.swan.ac.uk/Record/cronfa55790 |
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| Keywords: |
epilepsy; epileptic encephalopathy; FHF2; FGF13; voltage-gated sodium channel; developmental and epileptic encephalopathy; X linked; infantile onset |
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| College: |
Faculty of Medicine, Health and Life Sciences |
| Funders: |
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. |
| Issue: |
1 |
| Start Page: |
176 |
| End Page: |
185 |