Evidence map›Paper›PMID 37921875›Full record

ArticleCellular and molecular life sciences : CMLS2023

Clinical and functional consequences of GRIA variants in patients with neurological diseases.

Wenshu XiangWei, Riley E Perszyk, Nana Liu, Yuchen Xu, Subhrajit Bhattacharya, Gil H Shaulsky, Constance Smith-Hicks, Ali Fatemi, Andrew E Fry, Kate Chandler and 20 more

Open access · greenAbstract read
In one paragraph

Article in Cellular and molecular life sciences : CMLS, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
2.7field-weighted citation impact, top 9% 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

8 citing papers in PubMed, 16 citations in OpenAlex.

  1. Review
  2. Article
  3. Frontiers in cellular neuroscience · 2026
    Review
  4. Article
  5. Article
  6. Article
  7. Article
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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

30 authors at 14 institutions in 4 countries.

Wenshu XiangWeiDepartment of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.ORCID http://orcid.org/0000-0003-2456-4057
Riley E PerszykDepartment of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Nana LiuDepartment of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.
Yuchen XuDepartment of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Subhrajit BhattacharyaDepartment of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Gil H ShaulskyDepartment of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Constance Smith-HicksDepartment of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, 21205, USA.
Ali FatemiDepartment of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, 21205, USA.
Andrew E FryInstitute of Medical Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.
Kate ChandlerManchester Centre for Genomic Medicine (MCGM), Manchester University NHS Foundation Trust, Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.
Tao WangDepartment of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
Julie VogtWest Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B4 6NH, UK.
Julie S CohenDepartment of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, 21205, USA.
Alex R PaciorkowskiUniversity of Rochester Medical Center, Child Neurology, 601 Elmwood Ave., Rochester, NY, 14642, USA.
Annapurna PoduriEpilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, 02115, USA.
Yuehua ZhangDepartment of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.
Shuang WangDepartment of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.
Yuping WangDepartment of Neurology, Center of Epilepsy, Beijing Key Laboratory of Neuromodulation, Institute of Sleep and Consciousness Disorders, Beijing Institute for Brain Disorders, Xuanwu Hospital, Capital Medical University, Beijing, 100053, China.
Qiongxiang ZhaiDepartment of Pediatrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
Fang FangDepartment of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, 100069, China.
Jie LengDepartment Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, 450066, Henan, China.
Kathryn GarberDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Scott J MyersDepartment of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Robin-Tobias JaussInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Kristen L ParkDepartments of Pediatrics and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.ORCID http://orcid.org/0000-0001-5527-3047
Timothy A BenkeDepartments of Pediatrics and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.ORCID http://orcid.org/0000-0002-6969-5061
Johannes R LemkeInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.ORCID http://orcid.org/0000-0002-4435-6610
Hongjie YuanDepartment of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA. hyuan@emory.edu.ORCID http://orcid.org/0000-0002-8127-7145
Yuwu JiangDepartment of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China. jiangyuwu@bjmu.edu.cn.ORCID http://orcid.org/0000-0002-5179-9807
Stephen F TraynelisDepartment of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA. strayne@emory.edu.ORCID http://orcid.org/0000-0002-3750-9615
Emory University · USKennedy Krieger Institute · USPeking University · CNCapital Medical University · CNChildren's Hospital Colorado · USLeipzig University · DEBirmingham Women’s and Children’s NHS Foundation Trust · GBBoston Children's Hospital · USGuangdong Academy of Medical Sciences · CNJohns Hopkins University · USManchester University NHS Foundation Trust · GBUniversity Hospital of Wales · GBUniversity of Rochester Medical Center · USZhengzhou University · CN

Funding

Sleep and Circadian Dysfunction, Brain and Neurobehavioral Development in AutismP50HD103538 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI Stewart H Mostofsky · 2020 to 2026
$9.9M
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4M
Glutamate receptors and human neurological diseaseR35NS111619 · NINDS · EMORY UNIVERSITY · PI Stephen F Traynelis · 2019 to 2026
$6.6M
Human GRIA variants and neurological diseases: from molecular mechanism to rescue pharmacologyR21MH127404 · NIMH · EMORY UNIVERSITY · PI YUAN, HONGJIE · 2021 to 2022
$430k
NICHD NIH HHS P50 HD103538NICHD NIH HHS P50 HD105351NIMH NIH HHS MH127404NIMH NIH HHS R21 MH127404NINDS NIH HHS NS111619NINDS NIH HHS R35 NS111619
6 · The paper itself

Abstract

AMPA receptors are members of the glutamate receptor family and mediate a fast component of excitatory synaptic transmission at virtually all central synapses. Thus, their functional characteristics are a critical determinant of brain function. We evaluate intolerance of each GRIA gene to genetic variation using 3DMTR and report here the functional consequences of 52 missense variants in GRIA1-4 identified in patients with various neurological disorders. These variants produce changes in agonist EC

Indexed as

Nervous System DiseasesHumansReceptors, AMPASynapsesSynaptic TransmissionReceptors, AMPAAMPAChannelopathyGluAGlutamate receptorsGRIATranslational study

Identifiers

PMID37921875
PMCPMC10754216
OpenAlexW4388305006

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.