Evidence map›Paper›PMID 42835680›Full record

ArticleHuman mutation2026

Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With

Shangyu Wang, Xiaohui Min, Gege Yuan, Mingying He, Bing Wu, Xiaoyu Liu, Bixia Zheng, Yang Li, Aihua Zhang, Gang Zhang

Abstract read
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.

Shangyu WangMedical School Nanjing University Nanjing China nju.edu.cn.ORCID https://orcid.org/0009-0004-9789-0325
Xiaohui MinDepartment of Neurology Children's Hospital of Nanjing Medical University Nanjing China.ORCID https://orcid.org/0009-0006-7254-1465
Gege YuanNanjing Key Laboratory of Pediatrics Children's Hospital of Nanjing Medical University Nanjing China.
Mingying HeDepartment of Neurology Children's Hospital of Nanjing Medical University Nanjing China.
Bing WuDepartment of Neurology Children's Hospital of Nanjing Medical University Nanjing China.
Xiaoyu LiuDepartment of Neurology Children's Hospital of Nanjing Medical University Nanjing China.
Bixia ZhengNanjing Key Laboratory of Pediatrics Children's Hospital of Nanjing Medical University Nanjing China.ORCID https://orcid.org/0000-0003-3457-6545
Yang LiDepartment of Neurology Children's Hospital of Nanjing Medical University Nanjing China.
Aihua ZhangMedical School Nanjing University Nanjing China nju.edu.cn.ORCID https://orcid.org/0000-0001-7438-4404
Gang ZhangDepartment of Neurology Children's Hospital of Nanjing Medical University Nanjing China.ORCID https://orcid.org/0000-0001-5729-7667

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: Methods: This retrospective study included 103 children with Results: Among the 103 children, self-limited familial infantile epilepsy (SeLFIE) was the most common phenotype. A total of 26 different Conclusion: This study confirms that

Indexed as

Genetic Association StudiesGenetic CounselingMembrane ProteinsMutationNerve Tissue ProteinsAdolescentChildChild, PreschoolFemaleGenotypeHumansInfantMalePhenotypeRetrospective StudiesMembrane ProteinsNerve Tissue ProteinsPRRT2 protein, humangenotype–phenotypeinfantile convulsions with paroxysmal choreoathetosisparoxysmal kinesigenic dyskinesiaPRRT2self-limited familial infantile epilepsy

Identifiers

PMID42835680
PMCPMC13636657

What OpenQuestion holds

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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.