Evidence map›Paper›PMID 36808153›Full record

ArticleNature communications2023

Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub.

Marc P Forrest, Marc Dos Santos, Nicolas H Piguel, Yi-Zhi Wang, Nicole A Hawkins, Vikram A Bagchi, Leonardo E Dionisio, Sehyoun Yoon, Dina Simkin, Maria Dolores Martin-de-Saavedra and 7 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
5.0field-weighted citation impact, top 5% 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

15 citing papers in PubMed, 17 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Review
  10. The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024
    Review
  11. Article
  12. Review
  13. Review
  14. Article
  15. 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

17 authors at 2 institutions in 2 countries.

Marc P ForrestDepartment of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.ORCID 0000-0002-9280-7850
Marc Dos SantosDepartment of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.ORCID 0000-0002-6101-5631
Nicolas H PiguelDepartment of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
Yi-Zhi WangDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
Nicole A HawkinsDepartment of Pharmacology Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
Vikram A BagchiDepartment of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
Leonardo E DionisioDepartment of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
Sehyoun YoonDepartment of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
Dina SimkinDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.ORCID 0000-0002-4473-5960
Maria Dolores Martin-de-SaavedraDepartment of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.ORCID 0000-0001-8527-493X
Ruoqi GaoDepartment of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
Katherine E HoranDepartment of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
Alfred L GeorgeCenter for Autism and Neurodevelopment, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.ORCID 0000-0002-3993-966X
Mark S LeDouxDepartment of Psychology, University of Memphis, Memphis, TN, 38152, USA.
Jennifer A KearneyCenter for Autism and Neurodevelopment, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.
Jeffrey N SavasCenter for Autism and Neurodevelopment, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.ORCID 0000-0002-8173-5580
Peter PenzesDepartment of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA. p-penzes@northwestern.edu.
Northwestern University · USUniversity of Memphis · US

Funding

Project 3 - Development and investigation of murine models of channelopathy-associated epilepsyU54NS108874 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI KEARNEY, JENNIFER A · 2018 to 2022
$12.1M
Small GTPase signaling in spinesR01MH071316 · NIMH · NORTHWESTERN UNIVERSITY AT CHICAGO · PI BARBOLINA, MARIA V., PENZES, PETER · 2005 to 2025
$7.1M
Synaptic and dendritic dysfunction in psychiatric disordersR01MH097216 · NIMH · NORTHWESTERN UNIVERSITY AT CHICAGO · PI PENZES, PETER · 2012 to 2021
$6.1M
Combined Approach to the Genetic Basis of EpilepsyR01NS053792 · NINDS · VANDERBILT UNIVERSITY · PI KEARNEY, JENNIFER A · 2006 to 2019
$4.7M
Genetic Modifiers of Childhood EpilepsyR01NS084959 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI KEARNEY, JENNIFER A · 2014 to 2024
$4.2M
Neuronal excitability and copy number variation disordersR01NS114977 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI PENZES, PETER, SAVAS, JEFFREY NICHOLAS · 2020 to 2024
$3.2M
Pathophysiology of Paroxysmal DyskinesiasR56NS094965 · NINDS · UNIVERSITY OF TENNESSEE HEALTH SCI CTR · PI LEDOUX, MARK S · 2017 to 2017
$438k
Pathobiology and Treatment of the UBTF E210K Neuroregression SyndromeR56NS123059 · NINDS · UNIVERSITY OF MEMPHIS · PI LEDOUX, MARK S · 2021 to 2021
$415k
Mouse Models of Paroxysmal Non-kinesigenic DyskinesiaR03NS101485 · NINDS · UNIVERSITY OF TENNESSEE HEALTH SCI CTR · PI XIAO, JIANFENG · 2018 to 2019
$152k
NIMH NIH HHS R01 MH071316NIMH NIH HHS R01 MH097216NINDS NIH HHS R01 NS053792NINDS NIH HHS R01 NS084959NINDS NIH HHS R01 NS114977NINDS NIH HHS R03 NS101485NINDS NIH HHS R56 NS094965NINDS NIH HHS R56 NS123059NINDS NIH HHS U54 NS108874
6 · The paper itself

Abstract

Neuropsychiatric disorders (NPDs) are frequently co-morbid with epilepsy, but the biological basis of shared risk remains poorly understood. The 16p11.2 duplication is a copy number variant that confers risk for diverse NPDs including autism spectrum disorder, schizophrenia, intellectual disability and epilepsy. We used a mouse model of the 16p11.2 duplication (16p11.2

Indexed as

Autism Spectrum DisorderEpilepsyIntellectual DisabilityAnimalsBrainChromosome DeletionDNA Copy Number VariationsMembrane ProteinsMicePhenotypeMembrane ProteinsPRRT2 protein, mouse

Identifiers

PMID36808153
PMCPMC9938216
OpenAlexW4321225877

What OpenQuestion holds

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Registered trials

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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.