Evidence map›Paper›PMID 42824992›Full record

ArticleHuman mutation2026

A De Novo Arg649Trp Variant in GluA2 Impairs Its Assembly With GluA1: Associated With Epilepsy and Neurodevelopmental Disorders.

Jing-Wen Chen, Ying-Chun Lin, Ping Hu, Feng-Chang Qiao, Yan Wang, Qing-Qing Li, Shi-Ji Deng, Qin-Xin Zhang, Jiang Chen, Yun Stone Shi

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2026. 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
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.

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

10 authors.

Jing-Wen ChenMinistry of Education Key Laboratory of Model Animal for Disease Study Model Animal Research Center Medical School Nanjing University Nanjing China nju.edu.cn.
Ying-Chun LinDepartment of Prenatal Diagnosis Women's Hospital of Nanjing Medical University Nanjing Women and Children's Healthcare Hospital Nanjing China.
Ping HuDepartment of Prenatal Diagnosis Women's Hospital of Nanjing Medical University Nanjing Women and Children's Healthcare Hospital Nanjing China.ORCID https://orcid.org/0000-0002-7297-8847
Feng-Chang QiaoDepartment of Prenatal Diagnosis Women's Hospital of Nanjing Medical University Nanjing Women and Children's Healthcare Hospital Nanjing China.
Yan WangDepartment of Prenatal Diagnosis Women's Hospital of Nanjing Medical University Nanjing Women and Children's Healthcare Hospital Nanjing China.
Qing-Qing LiKey Laboratory of Craniocerebral Diseases of Ningxia Hui Autonomous Region School of Basic Medical Sciences Ningxia Medical University Yinchuan China nxmu.edu.cn.
Shi-Ji DengDepartment of Neurology Nanjing Drum Tower Hospital Affiliated Hospital of Medical School Nanjing University Nanjing China nju.edu.cn.
Qin-Xin ZhangDepartment of Prenatal Diagnosis Women's Hospital of Nanjing Medical University Nanjing Women and Children's Healthcare Hospital Nanjing China.
Jiang ChenDepartment of Neurology Nanjing Drum Tower Hospital Affiliated Hospital of Medical School Nanjing University Nanjing China nju.edu.cn.ORCID https://orcid.org/0000-0001-5827-0140
Yun Stone ShiMinistry of Education Key Laboratory of Model Animal for Disease Study Model Animal Research Center Medical School Nanjing University Nanjing China nju.edu.cn.ORCID https://orcid.org/0000-0002-8842-9818

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

AMPA-type glutamate receptors (AMPARs) are the main mediators for fast excitatory synaptic transmission in the brain. Among AMPAR subunits, GluA2 is unique because of its role in forming Ca

Indexed as

EpilepsyNeurodevelopmental DisordersReceptors, AMPAExome SequencingFemaleHEK293 CellsHumansMaleglutamate receptor ionotropic, AMPA 2Receptors, AMPA

Identifiers

PMID42824992
PMCPMC13628563

What OpenQuestion holds

Textmetadata
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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.