Evidence map›Paper›PMID 28012096›Full record

ArticleJournal of molecular neuroscience : MN2017

A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.

Jihane N Benhammou, Jennifer Phan, Hane Lee, Kevin Ghassemi, William Parsons, Wayne W Grody, Joseph R Pisegna

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of molecular neuroscience : MN, 2017. 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
–field-weighted citation impact, top 90% 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, 1 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

7 authors at 2 institutions in 1 country.

Jihane N BenhammouDivision of Digestive Diseases, Department of Medicine, and Departments of Pathology & Laboratory Medicine and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Jennifer PhanDivision of Digestive Diseases, Department of Medicine, and Departments of Pathology & Laboratory Medicine and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Hane LeeDivision of Digestive Diseases, Department of Medicine, and Departments of Pathology & Laboratory Medicine and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Kevin GhassemiDivision of Digestive Diseases, Department of Medicine, and Departments of Pathology & Laboratory Medicine and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
William ParsonsDivision of Digestive Diseases, Department of Medicine, and Departments of Pathology & Laboratory Medicine and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Wayne W GrodyDivision of Digestive Diseases, Department of Medicine, and Departments of Pathology & Laboratory Medicine and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Joseph R PisegnaDivision of Digestive Diseases, Department of Medicine, and Departments of Pathology & Laboratory Medicine and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. joseph.pisegna@va.gov.
University of California, Los Angeles · USVA Greater Los Angeles Healthcare System · US

Funding

Pilot and Feasibility ProgramP30DK041301 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ROZENGURT, JUAN ENRIQUE · 1990 to 2019
$18.0M
GASTROENTEROLOGYT32DK007180 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI JENSEN, DENNIS MICHAEL · 1986 to 2025
$10.0M
Gastrointestinal Hormonal Regulation of ObesityI01RX000194 · VA · VA GREATER LOS ANGELES HEALTHCARE SYSTEM · PI PISEGNA, JOSEPH R, TACHE, YVETTE FRANCE · 2012 to 2015
–
BLRD VA I01 BX004560NIDDK NIH HHS P30 DK041301NIDDK NIH HHS T32 DK007180RRD VA I01 RX000194
6 · The paper itself

Abstract

The voltage gated sodium channel SCN4A mutations account for non-dystrophic myotonia and include a heterogeneous group of conditions that include hyperkalemic periodic paralysis, paramyotonica congenita, potassium-aggravated myotonia, and hypokalemic periodic paralysis type 2. This case report proposes that a rare variant p.Pro1629Leu in SCN4A can cause a skeletal muscle deficit with intermittent dysphagia.

Indexed as

Mutation, MissenseDeglutition DisordersFemaleHumansMiddle AgedMuscle, SkeletalMyotoniaNAV1.4 Voltage-Gated Sodium ChannelPotassiumSyndromeNAV1.4 Voltage-Gated Sodium ChannelPotassiumSCN4A protein, humanDysphagiaMyotoniaSCN4A

Identifiers

PMID28012096
PMCPMC5346050
OpenAlexW2561226622

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.