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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(2020)10.1016/j.ajhg.2020.10.017Source: DataRank Database

Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy is a research paper published in The American Journal of Human Genetics (2020). On theSindex it has a DataRank of 0. It has been cited 47 times.

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Enrichment:Funding (12 grants)OA: bronzeTopics (26)IDs (PubMed, PMC)Annotations (4)

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Authors (22)

Christopher Marra ORCID,Anna V. Derrick,William Owen Pickrell ORCID,Adam T. Higgins ORCID,Johann te Water Naudé

Live enrichment

PubMed:33245860 PMC:PMC7820623

Medical Research Council

Grant: MC_PC_16035

NHLBI NIH HHS

Grant: R01 HL142498

Cancer Research UK

National Institute for Social Care and Health Research

National Institutes of Health

Health and Care Research Wales

Heart of England NHS Foundation Trust

Medical Research Council

National Heart and Lung Institute

Wellcome Trust

National Heart, Lung, and Blood Institute

National Institute for Health Research (NIHR)

bronzeLicense: cc-by-nc-nd

publisherhttp://www.cell.com/article/S0002929720303979/pdf

publisherhttps://api.elsevier.com/content/article/PII:S0002929720303979?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S0002929720303979?httpAccept=text/plain

repositoryhttps://research.manchester.ac.uk/en/publications/9ff6ba72-b065-4e77-bbb5-0f7b58392fdf

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/7820623

MeSH Terms

NeuronsHumansBrain DiseasesEpilepsySeizuresFibroblast Growth FactorsProtein IsoformsAmino Acid SequenceHeterozygoteMutation, MissenseExonsAdolescentChildFemaleMaleGenes, X-LinkedNAV1.6 Voltage-Gated Sodium ChannelGain of Function Mutation

Keywords

Epilepsyvoltage-gated sodium channelEpileptic EncephalopathyInfantile OnsetFgf13X LinkedDevelopmental And Epileptic EncephalopathyFhf2

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

FAIR Checklist

Authors (22)

Funding (12 grants)

Open Access

Topics

Annotations (Europe PMC)