Evidence map›Paper›PMID 34871784›Full record

ReviewEuropean journal of medical genetics2022

Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90.

Dhanya Lakshmi Narayanan, Purvi Majethia, Aroor Shrikiran, Shahyan Siddiqui, Ashwin Dalal, Anju Shukla

Open access · greenAbstract readCase ReportsReview
In one paragraph

Review in European journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.7field-weighted citation impact, top 14% 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

10 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.Movement disorders : official journal of the Movement Disorder Society · 2026
    Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. X-Linked Epilepsies: A Narrative Review.International journal of molecular sciences · 2024
    Review
  9. Article
  10. Fibroblast Growth Factor (FGF) 13.Differentiation; research in biological diversity
    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

6 authors at 2 institutions in 1 country.

Dhanya Lakshmi NarayananDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Purvi MajethiaDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Aroor ShrikiranDepartment of Pediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Shahyan SiddiquiDepartment of Neuroimaging and Interventional Radiology, STAR Institute of Neurosciences, STAR Hospitals, Hyderabad, India.
Ashwin DalalDiagnostics Division, Center for DNA Fingerprinting and Diagnostics, Hyderabad, India.
Anju ShuklaDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. Electronic address: anju.shukla@manipal.edu.
Manipal Academy of Higher Education · INCentre for DNA Fingerprinting and Diagnostics · IN

Funding

Genetic Diagnosis of Neurodevelopmental Disorders in IndiaR01HD093570 · NICHD · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BIELAS, STEPHANIE LEE · 2018 to 2024
$2.3M
NICHD NIH HHS R01 HD093570
6 · The paper itself

Abstract

Developmental and epileptic encephalopathies (DEE) are a genetically heterogeneous group of disorders characterised by early onset epilepsy, epileptiform activity on electroencephalogram and associated developmental delay or neuroregression. With the advent of high throughput sequencing, novel gene-disease associations have been described for DEEs. Voltage activated sodium channels (Na

Indexed as

EpilepsyFemaleFibroblast Growth FactorsGenetic Diseases, X-LinkedGenotypeHeterozygoteHumansInfantMutation, MissenseNeurodevelopmental DisordersPhenotypeSeizuresfibroblast growth factor 13Fibroblast Growth FactorsEEGFGFsFHFsGain of functionSeizureSodium channels

Identifiers

PMID34871784
PMCPMC8918359
OpenAlexW4200008413

What OpenQuestion holds

Textmetadata
LicenceTDM
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.