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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
Online Access: Check full text

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Keywords: epilepsy; epileptic encephalopathy; FHF2; FGF13; voltage-gated sodium channel; developmental and epileptic encephalopathy; X linked; infantile onset
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