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A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy

Molecular Case Studies(2021)10.1101/mcs.a005827Source: DataRank Database

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy is a research paper published in Molecular Case Studies (2021). On theSindex it has a DataRank of 0. It has been cited 30 times.

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Open Access30 citations

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›Methodology & internals

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Enrichment:Funding (5 grants)OA: goldTopics (80)IDs (PubMed, PMC, OpenAlex)Annotations (3)SDGs (2)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (19)

Melissa Walker ORCID,Frances A. High,Cynthia A. Cooper,Cassandra A. Rogers,Christine J. Callahan

Live enrichment

PubMed:33811063 PMC:PMC8208045 OpenAlex:https://openalex.org/W3144253983

NHGRI NIH HHS

Grant: U01 HG007674

NHGRI NIH HHS

Grant: U01 HG007690

National Institutes of Health

Grant: 5R01HG000130-02

ETHICAL ISSUES ARISING FROM THE HUMAN GENOME PROJECT

National Institutes of Health

Grant: 1U01HG007690-01

Center for Integrated Approaches to Undiagnosed Diseases

National Institutes of Health

Grant: 5U01HG007674-02

Vanderbilt Center for Undiagnosed Diseases (VCUD)

Influential Citations

Citation Trend

2022

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2025

2026

goldLicense: cc-by

journalhttp://molecularcasestudies.cshlp.org/content/7/3/a005827.full.pdf

GOLDhttp://molecularcasestudies.cshlp.org/content/7/3/a005827.full.pdf

publisherhttp://molecularcasestudies.cshlp.org/content/7/3/a005827.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/mcs.a005827

journalhttps://doi.org/10.1101/mcs.a005827

Fields of Study

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathwaysBiochemical and Molecular ResearchMedicine0301 basic medicine0303 health sciences03 medical and health sciencesAdolescentBrainChildCohort StudiesEpilepsyFemaleGenetic Association StudiesHEK293 CellsHumansMaleMuscle HypotoniaMutation, MissensePhenotypeProteinsSpasms, InfantileUbiquitin-Activating EnzymesYoung AdultInfantile Epileptic-Dyskinetic Encephalopathy

MeSH Terms

AdolescentBrainChildEpilepsyFemaleHumansMaleMuscle HypotoniaPhenotypeProteinsSpasms, InfantileCohort StudiesMutation, MissenseUbiquitin-Activating EnzymesYoung AdultGenetic Association StudiesHEK293 Cells

Keywords

Missense mutationPhenotypeGeneticsEpilepsyHypotoniaBiologyEncephalopathyGenotypeDystoniaGlobal developmental delayCompound heterozygosityMovement disordersGeneMedicineNeuroscienceInternal medicineEpileptic EncephalopathyGeneralized DystoniaCentral HypotoniaSevere Global Developmental DelayProfound Global Developmental DelayLimb HypertoniaResearch ReportMaleAdolescentMutation, MissenseBrainProteinsUbiquitin-Activating EnzymesCohort StudiesYoung AdultHEK293 CellsHumansMuscle HypotoniaFemaleChildSpasms, InfantileGenetic Association Studies

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Good health and well-being

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy

FAIR Checklist

Authors (19)

Funding (5 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)