Evidence map›Paper›PMID 42245406›Full record

ArticleFrontiers in genetics2026

Case report: Whole-exome sequencing reveals a novel variant in a patient with epilepsy presenting with fever.

Wei Guo, Dake Song, Ke Cheng, Chunhui Wang, Yujuan Wang, Xi Yang, Yan Lin, Xun Jiang, Xiyuan Liu, Li Lan

Abstract readCase Reports
In one paragraph

Article in Frontiers in genetics, 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.

Wei Guo *Department of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China.
Dake Song *Department of Pharmacology, School of Pharmacy, Fourth Military Medical University, Xi'an, China.
Ke Cheng *Department of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China.
Chunhui WangDepartment of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China.
Yujuan WangDepartment of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China.
Xi YangDepartment of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China.
Yan LinDepartment of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China.
Xun JiangDepartment of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China.
Xiyuan LiuHonghui Hospital, Xi'an Jiaotong University, Xi'an, China.
Li LanDepartment of Pediatrics, Tangdu Hospital, Fourth Military Medical University, Xi'an, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Epilepsy is a prevalent neurological disorder characterized by recurrent seizures and significant impacts on quality of life. This case report describes a 2-year-old male patient presenting with epilepsy associated with fever, in whom whole-exome sequencing (WES) revealed a novel

Indexed as

BK channelde novo variantepilepsyKCNMA1pediatric neurologywhole-exome sequencing

Identifiers

PMID42245406
PMCPMC13233052

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.