Evidence map›Paper›PMID 41311698›Full record

ArticleFrontiers in neuroscience2025

Case Report: Compound heterozygous KCTD7 variants in two siblings presenting with myoclonic epilepsy and ataxia.

Jingjing Song, Wenlin Wu, Yang Tian, Luoxiao Qin, Shitao Wei, Bin Yu, Hao Su, Liping Huang, Wenhui Liu, Xiaoli Huang

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

Article in Frontiers in neuroscience, 2025. 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
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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.

Jingjing SongDepartment of Neurology, Liuzhou Hospital, Guangzhou Women and Children's Medical Center, Liuzhou, China.
Wenlin WuDepartment of Neurology, Liuzhou Hospital, Guangzhou Women and Children's Medical Center, Liuzhou, China.
Yang TianDepartment of Neurology, Liuzhou Hospital, Guangzhou Women and Children's Medical Center, Liuzhou, China.
Luoxiao QinDepartment of Neurology, Liuzhou Hospital, Guangzhou Women and Children's Medical Center, Liuzhou, China.
Shitao WeiDepartment of Neurology, Liuzhou Hospital, Guangzhou Women and Children's Medical Center, Liuzhou, China.
Bin YuDepartment of Neurology, Liuzhou Hospital, Guangzhou Women and Children's Medical Center, Liuzhou, China.
Hao SuDepartment of Neurology, Liuzhou Hospital, Guangzhou Women and Children's Medical Center, Liuzhou, China.
Liping HuangDepartment of Neurology, Liuzhou Hospital, Guangzhou Women and Children's Medical Center, Liuzhou, China.
Wenhui LiuDepartment of Neurology, Liuzhou Hospital, Guangzhou Women and Children's Medical Center, Liuzhou, China.
Xiaoli HuangDepartment of Neurology, Liuzhou Hospital, Guangzhou Women and Children's Medical Center, Liuzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: Biallelic variants in Methods: Whole-exome sequencing was first performed in the elder sister to identify candidate variants, followed by in silico pathogenicity prediction. Sanger sequencing was then used to validate the variants in both parents and the younger brother. Results: We report two siblings with progressive myoclonic epilepsy (PME) carrying compound heterozygous Conclusion: This case expands the variant spectrum of

Indexed as

ataxiachildrenKCTD7 genemyoclonic epilepsywhole-exome sequencing

Identifiers

PMID41311698
PMCPMC12647077

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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.