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Whole exome sequencing and co‐expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus

Epilepsia(2022)10.1111/epi.17296Source: DataRank Database

Whole exome sequencing and co‐expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus is a research paper published in Epilepsia (2022). On theSindex it has a DataRank of 0. It has been cited 8 times.

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Open Access8 citations

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (11 grants)Impact (FWCI 1.35)OA: greenTopics (30)IDs (PubMed, PMC, OpenAlex)Annotations (1)SDGs (1)

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 (9)

Yanling Pan ORCID,Medhane Cumbay,Manuela Pendziwiat ORCID,Zaid Afawi ORCID,Hadassah Goldberg‐Stern

Live enrichment

PubMed:35592948 PMC:PMC10753192 OpenAlex:https://openalex.org/W4281254172

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Grant: U54 HD086984

National Center for Advancing Translational Sciences

Grant: UL1TR001878

National Institute of Neurological Disorders and Stroke

Grant: K02 NS112600

National Institute of Neurological Disorders and Stroke

Grant: U54NS108874

Deutsche Forschungsgemeinschaft

Grant: HE5415/3‐1

Deutsche Forschungsgemeinschaft

Grant: HE5415/5‐1

Deutsche Forschungsgemeinschaft

Grant: HE5415/6‐1

NINDS NIH HHS

Grant: U24 NS120854

Institute for Translational Medicine and Therapeutics

Hartwell Foundation

Dravet Syndrome Foundation

FWCI

1.35

Citation Percentile

0.8%

Citation Trend

2022

2023

2024

2025

greenLicense: http://onlinelibrary.wiley.com/termsAndConditions#vor

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC10753192/pdf/nihms-1809643.pdf

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.17296

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1111/epi.17296

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/10753192

Fields of Study

Genomics and Rare DiseasesEpilepsy research and treatmentGenetic Neurodegenerative Diseases

MeSH Terms

Exome SequencingSeizures, FebrileEpilepsyEpilepsies, MyoclonicHumansMutationPhenotypeVirulenceHEK293 CellsNAV1.1 Voltage-Gated Sodium Channel

Keywords

Exome sequencingEpilepsyGeneticsEpilepsy syndromesExomePathogenicityBiologyMedicineBioinformaticsNeuroscienceMutationGeneWhole Exome SequencingModifier GeneBiophysical PropertiesScn1a-related EpilepsyCo-expressed Variants

Sustainable Development Goals

SDG 0: Good health and well-being

Whole exome sequencing and co‐expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus

FAIR Checklist

Authors (9)

Funding (11 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)