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
-
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)
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
|
| 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 |