Evidence map›Paper›PMID 40800199›Full record

ArticleTranslational pediatrics2025

Clinical features and genetic analysis of epilepsy caused by

Dan-Dan Mao, Si-Xiu Li, Wen-Guang Hu, Hui Chen

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Translational pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

4 authors.

Dan-Dan Mao *Department of Pediatric Neurology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.ORCID https://orcid.org/0000-0002-8835-1029
Si-Xiu Li *Department of Pediatric Neurology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Wen-Guang HuDepartment of Pediatric Neurology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Hui ChenDepartment of Pediatric Neurology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Epilepsy is a prevalent chronic neurological disorder that affects individuals across all age groups. Genetic factors are believed to play a significant role in the etiology of epilepsy; however, epilepsy associated with mutations in the chloride voltage-gated channel 4 ( Case Description: We report a 2-year and 4-month-old male patient who experienced cluster convulsions due to a heterozygous variant in the Conclusions: A review of the existing literature identified only 60 cases, demonstrating a wide phenotypic spectrum. ID of varying degrees is observed in the majority of patients. Seizures typically commence in infancy and early childhood and manifest as multiple types, with focal seizures and generalized tonic-clonic seizures being the most common. Notably, missense variants may lead to a more severe phenotype compared to frameshift variants, and the p. Pro369Leu variant may represent a potential hotspot within the

Indexed as

case reportChildrenchloride voltage-gated channel 4 gene (CLCN4 gene)epilepsyseizures

Identifiers

PMID40800199
PMCPMC12336905

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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.