Evidence map›Paper›PMID 26792009›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2016

Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report.

Giovanna Marchese, Francesca Rizzo, Anna Guacci, Alessandro Weisz, Giangennaro Coppola

Abstract readCase ReportsLetter
PubMed Publisher
In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

4 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Review
  4. 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

5 authors.

Giovanna MarcheseLaboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Via S. Allende 1, 84081, Baronissi, SA, Italy.
Francesca RizzoLaboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Via S. Allende 1, 84081, Baronissi, SA, Italy.
Anna GuacciLaboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Via S. Allende 1, 84081, Baronissi, SA, Italy.
Alessandro WeiszLaboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Via S. Allende 1, 84081, Baronissi, SA, Italy. aweisz@unisa.it.ORCID http://orcid.org/0000-0003-0455-2083
Giangennaro CoppolaChild and Adolescent Neuropsychiatry, Department of Medicine and Surgery, "SS. Giovanni di Dio e Ruggi d'Aragona, Schola Medica Salernitana" Hospital of the University of Salerno, Via S. Allende 1, 84081, Baronissi, SA, Italy. gcoppola@unisa.it.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Child, PreschoolChromosome DeletionChromosomes, Human, Pair 9Craniofacial AbnormalitiesDNA Mutational AnalysisHeart Defects, CongenitalHistone-Lysine N-MethyltransferaseHumansIntellectual DisabilityKCNQ2 Potassium ChannelMaleMutationEHMT1 protein, humanHistone-Lysine N-MethyltransferaseKCNQ2 Potassium ChannelKCNQ2 protein, humanEHMT1KCNQ2Kleefstra syndromeNext generation sequencingWhole exome sequencing

Identifiers

PMID26792009

What OpenQuestion holds

Textmetadata
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.