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Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

Brain(2022)10.1093/brain/awac074Source: DataRank Database

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly is a research paper published in Brain (2022). On theSindex it has a DataRank of 0. It has been cited 15 times.

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Open Access15 citations

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Enrichment:Funding (15 grants)Impact (FWCI 1.68)OA: bronzeTopics (33)IDs (PubMed, PMC, OpenAlex)Annotations (2)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 (29)

J. Pedro Fernández-Murray ORCID,Mahtab Tavasoli ORCID,Heinrich Sticht ORCID,Gisela Stoltenburg‐Didinger ORCID,Leila Motlagh Scholle ORCID

Live enrichment

PubMed:35202461 PMC:PMC9630884 OpenAlex:https://openalex.org/W4213283092

NIH

Grant: NS106298

International Centre for Genomic Medicine in Neuromuscular Diseases

Grant: MR/S005021/1

Wellcome Trust and strategic

Grant: WT093205MA

Wellcome Trust and strategic

Grant: WT104033AIA

Wellcome Trust

Grant: 104033

Wellcome Trust

Grant: 093205

NINDS NIH HHS

Grant: R01 NS106298

Wellcome Trust

Grant: WT093205

Canadian Institutes of Health Research

Queen Square Genomics group

National Institute for Health Research (NIHR)

University College London Hospitals Biomedical Research Centre

Wellcome Trust

University College London

Wellcome Trust

FWCI

1.68

Citation Percentile

0.8%

Citation Trend

2022

2023

2024

2025

2026

bronzeLicense: https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model

journalhttps://academic.oup.com/brain/article-pdf/145/6/1916/46768323/awac074.pdf

publisherhttps://academic.oup.com/brain/article-pdf/145/6/1916/46768323/awac074.pdf

publisherhttps://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awac074/43953736/awac074.pdf

journalhttps://doi.org/10.1093/brain/awac074

repositoryhttps://pubmed.ncbi.nlm.nih.gov/35202461

Fields of Study

Genomics and Rare DiseasesGenetic Neurodegenerative DiseasesCellular transport and secretionAllelesCholine KinaseEpilepsyHumansMicrocephalyNervous System MalformationsNeurodevelopmental Disorders

MeSH Terms

AllelesCholine KinaseEpilepsyHumansMicrocephalyNervous System MalformationsNeurodevelopmental Disorders

Keywords

MicrocephalyEpilepsyMuscular dystrophyGeneticsBiologyHereditary spastic paraplegiaNeurodevelopmental disorderSpasticityAlleleGeneNeuroscienceMedicinePhenotypeExome SequencingCholine Kinase AlphaKennedy Pathway

Sustainable Development Goals

SDG 0: Good health and well-being

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

FAIR Checklist

Authors (29)

Funding (15 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)