Evidence map›Paper›PMID 34597683›Full record

ArticleExperimental neurology2022

Mutation of the murine Prickle1 (R104Q) causes phenotypes analogous to human symptoms of epilepsy and autism.

Yue Ban, Ting Yu, Jingyi Wang, Xiaojia Wang, Can Liu, Clayton Baker, Yimin Zou

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Experimental neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.2field-weighted citation impact, top 19% 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

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Article
  3. Epilepsy geneiScience · 2023
    Article
  4. Article
  5. 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

7 authors at 1 institution in 1 country.

Yue BanNeurobiology Section, Biological Sciences Division, University of California, San Diego, La Jolla, CA 92093, United States of America.
Ting YuNeurobiology Section, Biological Sciences Division, University of California, San Diego, La Jolla, CA 92093, United States of America.
Jingyi WangNeurobiology Section, Biological Sciences Division, University of California, San Diego, La Jolla, CA 92093, United States of America.
Xiaojia WangNeurobiology Section, Biological Sciences Division, University of California, San Diego, La Jolla, CA 92093, United States of America.
Can LiuNeurobiology Section, Biological Sciences Division, University of California, San Diego, La Jolla, CA 92093, United States of America.
Clayton BakerNeurobiology Section, Biological Sciences Division, University of California, San Diego, La Jolla, CA 92093, United States of America.
Yimin ZouNeurobiology Section, Biological Sciences Division, University of California, San Diego, La Jolla, CA 92093, United States of America. Electronic address: yzou@ucsd.edu.
University of California, San Diego · US

Funding

U of Calif, San Diego Neuroscience Microscopy ImagingP30NS047101 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G, ZHENG, BINHAI · 2003 to 2022
$9.0M
Glutamatergic synapse formation and functionR01MH116667 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ZOU, YIMIN · 2018 to 2022
$2.3M
Characterization of Prickle mutations in synapse development and disordersR21NS111648 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ZOU, YIMIN · 2019 to 2019
$433k
NIMH NIH HHS R01 MH116667NINDS NIH HHS P30 NS047101NINDS NIH HHS R21 NS111648
6 · The paper itself

Abstract

Epilepsy and autism spectrum disorders (ASD) frequently show comorbidity, suggesting shared or overlapping neurobiological basis underlying these conditions. R104Q is the first mutation in the PRICKLE 1(PK1) gene that was discovered in human patients with progressive myoclonus epilepsy (PME). Subsequently, a number of mutations in the PK1 gene were shown to be associated with either epilepsy, autism, or both, as well as other developmental disorders. Using CRISPR-Cas9-mediated gene editing, we generated a PK1

Indexed as

Disease Models, AnimalAdaptor Proteins, Signal TransducingAnimalsAutism Spectrum DisorderEpilepsyGene EditingHumansLIM Domain ProteinsMiceMutationPhenotypeAdaptor Proteins, Signal TransducingLIM Domain ProteinsPrickle1 protein, mouseBarnes mazeMouse modelNovel object recognitionPlanar cell polarityPrickle1Prickle1 R104QRESTSeizure threshold (PTZ)Three-chamber social interaction assay

Identifiers

PMID34597683
PMCPMC8718102
OpenAlexW3203439689

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.