Evidence map›Paper›PMID 34356067›Full record

ReviewGenes2021

Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.

Allan Bayat, Michael Bayat, Guido Rubboli, Rikke S Møller

Open access · goldAbstract readReview
In one paragraph

Review in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.

0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed
9.6field-weighted citation impact, top 1% 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

46 citing papers in PubMed, 93 citations in OpenAlex.

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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

4 authors at 3 institutions in 1 country.

Allan BayatDepartment of Regional Health Research, University of Southern Denmark, DK-5230 Odense, Denmark.ORCID 0000-0003-4986-8006
Michael BayatDepartment of Clinical Genetics, University Hospital of Aarhus, DK-8200 Aarhus, Denmark.
Guido RubboliDanish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, DK-4293 Dianalund, Denmark.
Rikke S MøllerDepartment of Regional Health Research, University of Southern Denmark, DK-5230 Odense, Denmark.
University of Southern Denmark · DKAarhus University Hospital · DKUniversity of Copenhagen · DK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The high pace of gene discovery has resulted in thrilling advances in the field of epilepsy genetics. Clinical testing with comprehensive gene panels, exomes, or genomes are now increasingly available and have led to a significant higher diagnostic yield in early-onset epilepsies and enabled precision medicine approaches. These have been instrumental in providing insights into the pathophysiology of both early-onset benign and self-limited syndromes and devastating developmental and epileptic encephalopathies (DEEs). Genetic heterogeneity is seen in many epilepsy syndromes such as West syndrome and epilepsy of infancy with migrating focal seizures (EIMFS), indicating that two or more genetic loci produce the same or similar phenotypes. At the same time, some genes such as

Indexed as

Epileptic SyndromesGenetic TestingHumansInfantPhenotypebenign and self-limiting (familial) epilepsy syndromesdiagnostic yieldearly-onset epilepsyepilepsy geneticsepileptic encephalopathyprecision therapy

Identifiers

PMID34356067
PMCPMC8307222
OpenAlexW3179061525

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.