Evidence map›Paper›PMID 33105619›Full record

ArticleBrain sciences2020

Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease.

Sarah Mafi, Cécile Laroche-Raynaud, Pauline Chazelas, Anne-Sophie Lia, Paco Derouault, Franck Sturtz, Yasser Baaj, Rachel Froget, Marlène Rio, Jean-François Benoist and 3 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Brain sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
0.8field-weighted citation impact, top 27% 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

11 citing papers in PubMed, 14 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. Review
  9. Cerebral folate deficiency: A report of two affected siblings.Molecular genetics and metabolism reports · 2023
    Article
  10. Article
  11. Review
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

13 authors at 4 institutions in 1 country.

Sarah MafiCHU de Limoges, Service de Biochimie et Génétique Moléculaire, F-87000 Limoges, France.
Cécile Laroche-RaynaudCHU de Limoges, Service de Pédiatrie, F-87000 Limoges, France.
Pauline ChazelasCHU de Limoges, Service de Biochimie et Génétique Moléculaire, F-87000 Limoges, France.
Anne-Sophie LiaCHU de Limoges, Service de Biochimie et Génétique Moléculaire, F-87000 Limoges, France.
Paco DerouaultCHU Limoges, UF de Bioinformatique, F-87000 Limoges, France.
Franck SturtzCHU de Limoges, Service de Biochimie et Génétique Moléculaire, F-87000 Limoges, France.ORCID 0000-0001-6428-5162
Yasser BaajCHU de Limoges, Service de Biochimie et Génétique Moléculaire, F-87000 Limoges, France.
Rachel FrogetCHU de Limoges, Service de Pédiatrie, F-87000 Limoges, France.
Marlène RioCHU Necker, Enfants Malades, Paris, APHP, Service de Génétique, F-75743 Paris, France.
Jean-François BenoistCHU Necker, Enfants Malades, Paris, APHP, Service de Biochimie Métabolomique, F-75743 Paris, France.
François PoumeaudFaculté de Médecine, EA6309 Maintenance Myélinique et Neuropathies Périphériques, Université de Limoges, F-87000 Limoges, France.ORCID 0000-0002-4453-187X
Frédéric FavreauCHU de Limoges, Service de Biochimie et Génétique Moléculaire, F-87000 Limoges, France.
Pierre-Antoine FayeCHU de Limoges, Service de Biochimie et Génétique Moléculaire, F-87000 Limoges, France.ORCID 0000-0001-9291-3795
Centre Hospitalier Universitaire de Limoges · FRInstitut Necker Enfants Malades · FRInserm · FRUniversité de Limoges · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cerebral folate deficiency (CFD) is a neurological disorder characterized by low levels of 5-methyltetrahydrofolate (5-MTHF) in the cerebrospinal fluid (CSF). The prevalence of this autosomal recessive disorder is estimated to be <1/1,000,000. Fifteen different pathogenic variants in the folate receptor 1 gene (

Indexed as

cerebral folate deficiencyepilepsyFOLR1 variantFRα protein crystallographic structureneurodegenerative disorderpediatric

Identifiers

PMID33105619
PMCPMC7690394
OpenAlexW3094552554

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.