Evidence map›Paper›PMID 42756411›Full record

ArticleHuman mutation2026

Infantile Epileptic Spasm Syndrome Caused by

Hui Xiao, Changning Xie, Pan Peng, Xiaoyuan Ni, Leilei Mao, Jing Peng

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

6 authors.

Hui XiaoDepartment of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China, csu.edu.cn.
Changning XieDepartment of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China, csu.edu.cn.
Pan PengDepartment of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China, csu.edu.cn.
Xiaoyuan NiDepartment of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China, csu.edu.cn.
Leilei MaoDepartment of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China, csu.edu.cn.ORCID https://orcid.org/0000-0002-5471-7563
Jing PengDepartment of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China, csu.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Pathogenic variants in Methods: We performed whole-exome sequencing in two unrelated Chinese patients with IESS. Functional consequences were assessed using in vitro overexpression assays, transcriptome profiling of Neuro-2a cells with stable Results: We identified two novel Conclusion: Our findings establish

Indexed as

Histone AcetyltransferasesMutation, MissenseNeuronsSpasms, InfantileTATA-Binding Protein Associated FactorsTranscription Factor TFIIDAnimalsExome SequencingFemaleHumansInfantMaleMicePhenotypeHistone AcetyltransferasesTATA-binding protein associated factor 250 kDaTATA-Binding Protein Associated FactorsTranscription Factor TFIIDinfantile epileptic spasms syndromeloss-of-functionneuronal developmentneuronal excitabilityTAF1

Identifiers

PMID42756411
PMCPMC13583436

What OpenQuestion holds

Textmetadata
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 OpenQuestion graph.