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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
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
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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 |
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ISSN: | 0002-9297 |
Published: |
Elsevier BV
2021
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Online Access: |
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URI: | https://cronfa.swan.ac.uk/Record/cronfa55790 |
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Keywords: |
epilepsy; epileptic encephalopathy; FHF2; FGF13; voltage-gated sodium channel; developmental and epileptic encephalopathy; X linked; infantile onset |
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College: |
Swansea University Medical School |
Issue: |
1 |
Start Page: |
176 |
End Page: |
185 |