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Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Brain(2022)10.1093/brain/awac145Source: DataRank Database

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis is a research paper published in Brain (2022). On theSindex it has a DataRank of 0. It has been cited 36 times.

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Open Access36 citations

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (9 grants)OA: greenTopics (35)IDs (PubMed)SDGs (2)

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Authors (53)

Davide Mei ORCID,Katalin Kerti‐Szigeti ORCID,Sara Pepe ORCID,Mary Kay Koenig ORCID,Gretchen Von Allmen ORCID

Live enrichment

PubMed:21097893

EU 7th Framework Programme

Grant: N602531

Regione Toscana

Grant: DECODE-EE

Health Innovation Challenge Fund

Grant: HICF-1009-003

Wellcome Sanger Institute

Grant: WT098051

Cambridge South REC

Grant: 10/H0305/83

Republic of Ireland REC

Grant: GEN/284/12

Wellcome Trust

Grant: unidentified

unidentified

European Commission

Grant: 602531

Development and Epilepsy - Strategies for Innovative Research to improve diagnosis, prevention and treatment in children with difficult to treat Epilepsy

Wellcome Trust

Grant: 098051

Wellcome Trust Sanger Institute - generic account for deposition of all core- funded research papers

greenLicense: OUP Standard Publication Reuse

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC10893886/pdf/awac145.pdf

publisherhttps://academic.oup.com/brain/article-pdf/145/8/2687/56752596/awac145.pdf

https://doi.org/10.1093/brain/awac145

https://pubmed.ncbi.nlm.nih.gov/35675510

https://dx.doi.org/10.1093/brain/awac145

Fields of Study

0301 basic medicine03 medical and health sciences

Keywords

Spasms, Infantile; Vacuolar Proton-Translocating ATPasesVacuolar Proton-Translocating ATPases610progressive brain atrophyInfantileSpasmsAdenosine TriphosphateSettore MED/04 - PATOLOGIA GENERALEIntellectual DisabilityHomeostasi616Atrophy; Child; Homeostasis; Humans; Infant; Lysosomes; Phenotype; Brain Diseases; Epilepsy; Intellectual Disability;HomeostasisHumansChildATP6V1A; developmental delay; epileptic encephalopathy; lysosomal disorder; progressive brain atrophyepileptic encephalopathy; lysosomal disorder; progressive brain atrophy; developmental delay; Adenosine TriphosphateBrain DiseasesEpilepsylysosomal disorderBrain DiseaseInfantLysosomeSettore MEDS-02/A - Patologia generale[SDV] Life Sciences [q-bio]developmental delaySettore MED/26 - NEUROLOGIAepileptic encephalopathyPhenotypeAtrophyLysosomesSpasms, InfantileHuman

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