Evidence map›Paper›PMID 34938262›Full record

ArticleFrontiers in neurology2021

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome.

Peter Sparber, Svetlana Mikhaylova, Varvara Galkina, Yulia Itkis, Mikhail Skoblov

Open access · goldAbstract readCase Reports
In one paragraph

Article in Frontiers in neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.3field-weighted citation impact, top 31% 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

0 citing papers in PubMed, 2 citations in OpenAlex.

No citing paper in PubMed yet.

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

5 authors at 2 institutions in 1 country.

Peter SparberLaboratory of Functional Genomics, Research Centre for Medical Genetics, Moscow, Russia.
Svetlana MikhaylovaMedical Genetics Department, Russian Children's Clinical Hospital, Moscow, Russia.
Varvara GalkinaClinical Department, Research Centre for Medical Genetics, Moscow, Russia.
Yulia ItkisLaboratory of Inherited Metabolic Disorders, Research Centre for Medical Genetics, Moscow, Russia.
Mikhail SkoblovLaboratory of Functional Genomics, Research Centre for Medical Genetics, Moscow, Russia.
Research Centre for Medical Genetics · RURussian Children's Clinical Hospital · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic variants in the

Indexed as

Dravet syndromeepilepsyfunctional analysismedical geneticsmolecular pathogenesissplicing

Identifiers

PMID34938262
PMCPMC8686832
OpenAlexW4200611850

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.