Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy

Fibroblast growth factor homologous factors (FHFs) are intracellular proteins which regulate voltage-gated sodium (Na(v)) channels in the brain and other tissues. FHF dysfunction has been linked to neurological disorders including epilepsy. Here, we describe two sibling pairs and three unrelated mal...

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Publicado no:Am J Hum Genet
Main Authors: Fry, Andrew E., Marra, Christopher, Derrick, Anna V., Pickrell, William O., Higgins, Adam T., te Water Naude, Johann, McClatchey, Martin A., Davies, Sally J., Metcalfe, Kay A., Tan, Hui Jeen, Mohanraj, Rajiv, Avula, Shivaram, Williams, Denise, Brady, Lauren I., Mesterman, Ronit, Tarnopolsky, Mark A., Zhang, Yuehua, Yang, Ying, Wang, Xiaodong, Rees, Mark I., Goldfarb, Mitchell, Chung, Seo-Kyung
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2021
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7820623/
https://ncbi.nlm.nih.gov/pubmed/33245860
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.10.017
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