Evidence map›Paper›PMID 41383239›Full record

ArticleFrontiers in neurology2025

Epilepsy-associated

Yu-Jie Gu, Peng-Yu Wang, Qing-Qing Fu, Jia-He Lai, Xin Chen, Xiang-Hong Liu, Bao-Zhu Guan

Abstract read
In one paragraph

Article in Frontiers in neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Precision diagnosis ofFrontiers in genetics · 2026
    Article
  3. Toward precision medicine inFrontiers 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

7 authors.

Yu-Jie Gu *Department of Neurology, Ganzhou People's Hospital, Ganzhou, China.
Peng-Yu Wang *Department 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, China.
Qing-Qing FuDepartment of Neurology, Ganzhou People's Hospital, Ganzhou, China.
Jia-He LaiDepartment of Neurology, Ganzhou People's Hospital, Ganzhou, China.
Xin ChenDepartment of Neurology, Ganzhou People's Hospital, Ganzhou, China.
Xiang-Hong LiuDepartment of Neurology, Ganzhou People's Hospital, Ganzhou, China.
Bao-Zhu GuanDepartment of Neurology, Ganzhou People's Hospital, Ganzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: The Methods: The dataset of pathogenic and control Result: A total of 27 missense variants which were classified as pathogenic or likely pathogenic were used as a positive set, and 57 missense variants were used as a negative set. The top tools in accuracy are MutPred2, ESM1b, AlphaMissense, and PROVEAN. In terms of the MCC and F score, the higher degree was observed in MutPred2 and AlphaMissense (MCC score >0.8). ClinPred, AlphaMissense, and BayesDel_addAF had a higher AUC score (AUC > 0.99). SIFT, SIFT4G, Polyphen2_HDIV, Polyphen2_HVAR, ClinPred, and AlphaMissense scores exhibited a distinct bimodal distribution. While scores from other predictors showed a wider distribution range. Conclusion: Our study highlights the significant variation in the performance of different

Indexed as

AlphaMissenseCHD2developmental and epileptic encephalopathyin silico toolsmissense variantMutPred2optimizing genetic diagnosis

Identifiers

PMID41383239
PMCPMC12689356

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.