Evidence map›Paper›PMID 27956748›Full record

ArticleMolecular psychiatry2018

Association of rare missense variants in the second intracellular loop of Na

M Rubinstein, A Patowary, I B Stanaway, E McCord, R R Nesbitt, M Archer, T Scheuer, D Nickerson, W H Raskind, E M Wijsman and 3 more

Open access · hybridAbstract read
In one paragraph

Article in Molecular psychiatry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
1.8field-weighted citation impact, top 15% 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

27 citing papers in PubMed, 40 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Gene therapy as an emerging treatment forFundamental research · 2024
    Review
  7. Article
  8. Dual-pocket inhibition of NaProceedings of the National Academy of Sciences of the United States of America · 2023
    Article
  9. Article
  10. Primary cilia TRP channel regulates hippocampal excitability.Proceedings of the National Academy of Sciences of the United States of America · 2023
    Article
  11. Article
  12. Article
  13. Disruption of the autism-associated geneFrontiers in cellular neuroscience · 2023
    Article
  14. Article
  15. Article
  16. Article
  17. The Potential Effect of NaFrontiers in molecular neuroscience · 2021
    Article
  18. A mini-review: Bridging the gap between autism spectrum disorder and pain comorbidities.Canadian journal of pain = Revue canadienne de la douleur · 2020
    Review
  19. Chemometric Models of Differential Amino Acids at the NaMolecules (Basel, Switzerland) · 2020
    Article
  20. Review
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

13 authors at 2 institutions in 1 country.

M RubinsteinDepartment of Pharmacology, University of Washington, Seattle, WA, USA.
A PatowaryDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
I B StanawayDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
E McCordDepartment of Pharmacology, University of Washington, Seattle, WA, USA.
R R NesbittDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
M ArcherDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
T ScheuerDepartment of Pharmacology, University of Washington, Seattle, WA, USA.
D NickersonDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
W H RaskindDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
E M WijsmanDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
R BernierDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
W A CatterallDepartment of Pharmacology, University of Washington, Seattle, WA, USA.
Z BrkanacDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
University of Washington · USUniversity of Washington Medical Center · US

Funding

Pharmacological Sciences SupplementT32GM007750 · NIGMS · UNIVERSITY OF WASHINGTON · PI ATKINS, WILLIAM M · 1985 to 2023
$12.6M
Intellectual and Developmental Disabilities Research CenterU54HD083091 · NICHD · UNIVERSITY OF WASHINGTON · PI DOHERTY, DANIEL · 2014 to 2019
$7.9M
CELL BIOLOGY OF THE NEURONAL SODIUM CHANNELR01NS025704 · NINDS · UNIVERSITY OF WASHINGTON · PI CATTERALL, WILLIAM A · 1988 to 2018
$6.2M
Next Generation Gene Discovery in Familial AutismR01MH092367 · NIMH · UNIVERSITY OF WASHINGTON · PI BRKANAC, ZORAN · 2011 to 2015
$3.3M
2/3 Sequencing Autism Spectrum Disorder Extended PedigreesR01MH094293 · NIMH · UNIVERSITY OF WASHINGTON · PI WIJSMAN, ELLEN M · 2012 to 2016
$1.1M
NICHD NIH HHS U54 HD083091NIGMS NIH HHS T32 GM007750NIMH NIH HHS R01 MH092367NIMH NIH HHS R01 MH094293NINDS NIH HHS R01 NS025704
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder often accompanied by intellectual disability, language impairment and medical co-morbidities. The heritability of autism is high and multiple genes have been implicated as causal. However, most of these genes have been identified in de novo cases. To further the understanding of familial autism, we performed whole-exome sequencing on five families in which second- and third-degree relatives were affected. By focusing on novel and protein-altering variants, we identified a small set of candidate genes. Among these, a novel private missense C1143F variant in the second intracellular loop of the voltage-gated sodium channel Na

Indexed as

Autism Spectrum DisorderAutistic DisorderCase-Control StudiesExome SequencingFamilyFemaleHumansIntellectual DisabilityMaleMutationMutation, MissenseNAV1.7 Voltage-Gated Sodium ChannelNeuronsPhenotypeSodium ChannelsNAV1.7 Voltage-Gated Sodium ChannelSCN9A protein, humanSodium Channels

Identifiers

PMID27956748
PMCPMC5468514
OpenAlexW2567533913

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
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.