Evidence map›Paper›PMID 40330149›Full record

ArticleGenes & diseases2025

Wenjun Zhang, Sheng Luo, Mi Jiang, Yongxin Chen, Rongna Ren, Yunhong Wu, Pengyu Wang, Peng Zhou, Jiong Qin, Weiping Liao

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes & diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
–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

7 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Identification ofJournal of medical genetics · 2025
    Article
  4. Potential Association of theInternational journal of molecular sciences · 2025
    Article
  5. Article
  6. Article
  7. Frontiers in neurology
    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

10 authors.

Wenjun ZhangDepartment of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong 510000, China.
Sheng LuoDepartment of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong 510000, China.
Mi JiangDepartment of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong 510000, China.
Yongxin ChenDepartment of Pediatrics, Guangdong General Hospital, Guangzhou, Guangdong 510000, China.
Rongna RenDepartment of Pediatrics, The 900 Hospital of the Joint Service Support Force of the People's Liberation Army of China, Fuzhou, Fujian 350000, China.
Yunhong WuDepartment of Neurology, Children's Hospital of Shanxi, Taiyuan, Shanxi 030000, China.
Pengyu WangDepartment of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong 510000, China.
Peng ZhouDepartment of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong 510000, China.
Jiong QinDepartment of Pediatrics, Peking University People's Hospital, Beijing 100044, China.
Weiping LiaoDepartment of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong 510000, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic factors are the major causes of epilepsies, such as developmental and epileptic encephalopathy (DEE) and idiopathic generalized epilepsy (IGE). However, the etiology of most patients remains elusive. This study performed exon sequencing in a cohort of 173 patients with IGE. Additional cases were recruited from the matching platform in China. The excess and damaging effect of variants, the genotype-phenotype correlation, and the correlation between gene expression and phenotype were studied to validate the gene-disease association.

Indexed as

CSMD1Developmental and epileptic encephalopathyGenotype-phenotype correlationIdiopathic generalized epilepsyMinor allele frequency-phenotype severity correlation

Identifiers

PMID40330149
PMCPMC12052674

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.