Evidence map›Paper›PMID 35627139›Full record

ArticleGenes2022

Diana M Cornejo-Sanchez, Anushree Acharya, Thashi Bharadwaj, Lizeth Marin-Gomez, Pilar Pereira-Gomez, Liz M Nouel-Saied, University Of Washington Center For Mendelian Genomics, Deborah A Nickerson, Michael J Bamshad, Heather C Mefford and 5 more

Open access · goldAbstract read
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
0.6field-weighted citation impact, top 29% 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

2 citing papers in PubMed, 1 synthesis or guideline pooled it, 3 citations in OpenAlex.

  1. Pooled it
  2. 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

15 authors at 3 institutions in 2 countries.

Diana M Cornejo-SanchezCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
Anushree AcharyaCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
Thashi BharadwajCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.ORCID 0000-0002-7870-5655
Lizeth Marin-GomezGene Mapping Group, Faculty of Medicine, University of Antioquia, Medellin 050010470, Colombia.ORCID 0000-0003-0867-3771
Pilar Pereira-GomezGene Mapping Group, Faculty of Medicine, University of Antioquia, Medellin 050010470, Colombia.
Liz M Nouel-SaiedCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
University Of Washington Center For Mendelian GenomicsDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Deborah A NickersonDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Michael J BamshadDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Heather C MeffordDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Isabelle SchrauwenCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.ORCID 0000-0001-7310-6082
Jaime Carrizosa-MoogGene Mapping Group, Faculty of Medicine, University of Antioquia, Medellin 050010470, Colombia.
William Cornejo-OchoaPediatrics Group, Faculty of Medicine, University of Antioquia, Medellin 050010470, Colombia.
Nicolas Pineda-TrujilloGene Mapping Group, Faculty of Medicine, University of Antioquia, Medellin 050010470, Colombia.ORCID 0000-0002-8342-2510
Suzanne M LealCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
Columbia University Irving Medical Center · USUniversidad de Antioquia · COUniversity of Washington · US

Funding

UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3M
NHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9M
NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006493
6 · The paper itself

Abstract

Genetic epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant disorder with febrile or afebrile seizures that exhibits phenotypic variability. Only a few variants in SCN1A have been previously characterized for GEFS+, in Latin American populations where studies on the genetic and phenotypic spectrum of GEFS+ are scarce. We evaluated members in two multi-generational Colombian Paisa families whose affected members present with classic GEFS+. Exome and Sanger sequencing were used to detect the causal variants in these families. In each of these families, we identified variants in SCN1A causing GEFS+ with incomplete penetrance. In Family 047, we identified a heterozygous variant (c.3530C > G; p.(Pro1177Arg)) that segregates with GEFS+ in 15 affected individuals. In Family 167, we identified a previously unreported variant (c.725A > G; p.(Gln242Arg)) that segregates with the disease in a family with four affected members. Both variants are located in a cytoplasmic loop region in SCN1A and based on our findings the variants are classified as pathogenic and likely pathogenic, respectively. Our results expand the genotypic and phenotypic spectrum associated with SCN1A variants and will aid in improving molecular diagnostics and counseling in Latin American and other populations.

Indexed as

EpilepsySeizures, FebrileColombiaHumansNAV1.1 Voltage-Gated Sodium ChannelPedigreeNAV1.1 Voltage-Gated Sodium ChannelSCN1A protein, humanautosomal dominantepilepsyGEFS+incomplete penetranceSCN1A

Identifiers

PMID35627139
PMCPMC9140479
OpenAlexW4224861633

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.