Evidence map›Paper›PMID 34769443›Full record

ArticleInternational journal of molecular sciences2021

Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy.

Anna Barile, Philippa Mills, Martino L di Salvo, Claudio Graziani, Victoria Bunik, Peter Clayton, Roberto Contestabile, Angela Tramonti

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.6field-weighted citation impact, top 36% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 4 institutions in 3 countries.

Anna BarileIstituto di Biologia e Patologia Molecolari, Consiglio Nazionale delle Ricerche, 00185 Rome, Italy.
Philippa MillsGenetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
Martino L di SalvoDipartimento di Scienze Biochimiche "A. Rossi Fanelli", Sapienza Università di Roma, 00185 Rome, Italy.ORCID 0000-0003-1233-9338
Claudio GrazianiDipartimento di Scienze Biochimiche "A. Rossi Fanelli", Sapienza Università di Roma, 00185 Rome, Italy.
Victoria BunikBelozersky Institute of Physico-Chemical Biology, Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, 119991 Moscow, Russia.ORCID 0000-0002-2552-8560
Peter ClaytonGenetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
Roberto ContestabileDipartimento di Scienze Biochimiche "A. Rossi Fanelli", Sapienza Università di Roma, 00185 Rome, Italy.ORCID 0000-0002-5235-9993
Angela TramontiIstituto di Biologia e Patologia Molecolari, Consiglio Nazionale delle Ricerche, 00185 Rome, Italy.ORCID 0000-0002-5625-1170
Sapienza University of Rome · ITGreat Ormond Street Hospital · GBInstitute of Molecular Biology and Pathology · ITSechenov University · RU

Funding

Istituto Pasteur Anna Tramontano grantNational Research Council CUP B85F20002990005National Research Council CUP B86C17000270001Sapienza University of Rome RM120172A76E4B78
6 · The paper itself

Abstract

Several variants of the enzyme pyridox(am)ine 5'-phosphate oxidase (PNPO), responsible for a rare form of vitamin B

Indexed as

MutationBrain Diseases, MetabolicEpilepsyHumansHypoxia-Ischemia, BrainInfant, NewbornMetabolic DiseasesPyridoxal PhosphatePyridoxaminephosphate OxidaseSeizuresStructure-Activity RelationshipVitamin B 6Pyridoxal PhosphatePyridoxaminephosphate Oxidasepyridoxine 5-phosphateVitamin B 6neonatal epileptic encephalopathyPNPO deficiencypyridoxal 5′-phosphatepyridox(am)ine 5′-phosphate oxidase

Identifiers

PMID34769443
PMCPMC8584306
OpenAlexW3213176912

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.