Journal article 52 views
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
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 |