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Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2022)10.1002/ajmg.c.32022Source: DataRank Database

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype is a research paper published in American Journal of Medical Genetics Part C Seminars in Medical Genetics (2022). On theSindex it has a DataRank of 0. It has been cited 10 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access10 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (5 grants)Impact (FWCI 1.68)OA: hybridTopics (49)IDs (PubMed, PMC, OpenAlex)Annotations (1)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 (15)

Dante J. Rogers,Samuel J. Kroening,Abigail L Zatkalik,Ashley E. Whitmarsh,Amy E. Roberts ORCID

Live enrichment

PubMed:36448195 PMC:PMC9825647 OpenAlex:https://openalex.org/W4310457468

NCATS NIH HHS

Grant: KL2 TR002492

National Institutes of Health

Grant: 1KL2TR002492-01

Institutional Career Development Core

Rare Disease Foundation

Associazione Italiana per la Ricerca sul Cancro

National Institutes of Health

FWCI

1.68

Citation Percentile

0.8%

Citation Trend

2022

2023

2024

2025

hybridLicense: cc-by-nc-nd

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.c.32022

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.c.32022

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.32022

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.c.32022

journalhttps://doi.org/10.1002/ajmg.c.32022

Fields of Study

Genetics and Neurodevelopmental DisordersMitochondrial Function and PathologyCellular transport and secretion03 medical and health sciences0302 clinical medicineHumansSpasms, InfantileProto-Oncogene Proteins B-rafEpilepsyGenotypeSyndromeSpasm

MeSH Terms

EpilepsyGenotypeHumansSpasmSpasms, InfantileSyndromeProto-Oncogene Proteins B-raf

Keywords

VigabatrinEpilepsyEpileptic spasmsPediatricsGenotypeWest SyndromeMedicinePhenotypeClinical trialFamily historyInternal medicineBioinformaticsOncologyBiologyGenePsychiatryGeneticsAnticonvulsantSeizuresKrasBrafRasopathiesMap2k1Map2k2Proto-Oncogene Proteins B-rafSpasmSyndromeHumansSpasms, InfantileResearch Articles

Sustainable Development Goals

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