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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 V. Derrick, 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: 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: Swansea University Medical School
Issue: 1
Start Page: 176
End Page: 185