Evidence map›Paper›PMID 34070602›Full record

ReviewInternational journal of molecular sciences2021

Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.

Sonia Mayo, Irene Gómez-Manjón, Fco Javier Fernández-Martínez, Ana Camacho, Francisco Martínez, Julián Benito-León

Open access · goldAbstract readReview
In one paragraph

Review 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 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
2.9field-weighted citation impact, top 9% 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

7 citing papers in PubMed, 24 citations in OpenAlex.

  1. A 350 kbGenes · 2026
    Article
  2. Article
  3. Review
  4. Life (Basel, Switzerland) · 2025
    Article
  5. Article
  6. Article
  7. 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

6 authors at 3 institutions in 1 country.

Sonia MayoGenetics and Inheritance Research Group, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), 28041 Madrid, Spain.ORCID 0000-0002-5465-7783
Irene Gómez-ManjónGenetics and Inheritance Research Group, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), 28041 Madrid, Spain.ORCID 0000-0001-7137-1915
Fco Javier Fernández-MartínezGenetics and Inheritance Research Group, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), 28041 Madrid, Spain.
Ana CamachoDepartment of Neurology, Division of Pediatric Neurology, Hospital Universitario 12 de Octubre, Universidad Complutense de Madrid, 28041 Madrid, Spain.
Francisco MartínezTraslational Research in Genetics, Instituto de Investigación Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.ORCID 0000-0002-0589-2584
Julián Benito-LeónDepartment of Neurology, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.ORCID 0000-0002-1769-4809
Research Institute Hospital 12 de Octubre · ESUniversidad Complutense de Madrid · ESHospital Universitari i Politècnic La Fe · ES

Funding

Fundación Mutua Madrileña 2019/0144Instituto de Salud Carlos III CP20/00154
6 · The paper itself

Abstract

Eyelid myoclonia with absences (EMA), also known as Jeavons syndrome (JS) is a childhood onset epileptic syndrome with manifestations involving a clinical triad of absence seizures with eyelid myoclonia (EM), photosensitivity (PS), and seizures or electroencephalogram (EEG) paroxysms induced by eye closure. Although a genetic contribution to this syndrome is likely and some genetic alterations have been defined in several cases, the genes responsible for have not been identified. In this review, patients diagnosed with EMA (or EMA-like phenotype) with a genetic diagnosis are summarized. Based on this, four genes could be associated to this syndrome (

Indexed as

Epilepsy, AbsenceGenetic Diseases, InbornHumansMyoclonuscandidate genesCHD2eyelid myoclonia with absencesJeavons syndromeKIA02022NEXMIFRORBSYNGAP1

Identifiers

PMID34070602
PMCPMC8199219
OpenAlexW3165449045

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.