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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; 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

  • Accepted Manuscript under embargo until: 26th May 2021
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