No Cover Image

Journal article 96 views 4 downloads

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, 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: Owen Pickrell, Adam Higgins, Mark Rees, Seo-Kyung Chung

  • 55790.pdf

    PDF | Accepted Manuscript

    ©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)

    Download (1.26MB)
Published in: The American Journal of Human Genetics
ISSN: 0002-9297
Published: Elsevier BV 2021
Online Access: Check full text

URI: https://cronfa.swan.ac.uk/Record/cronfa55790
Tags: Add Tag
No Tags, Be the first to tag this record!
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