Evidence map›Paper›PMID 40652205›Full record

ArticleJournal of neurodevelopmental disorders2025

Identifying compound heterozygous variants in the EEFSEC gene linked to progressive cerebellar atrophy.

Zhen Liu, Mei He, Xuan Luo, Hu Pan, Juanli Hu, Zhengqing Wan, Yin Peng, Yixiao Luo, Hua Wang, Xiao Mao

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

Article in Journal of neurodevelopmental disorders, 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
–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.

Zhen LiuKey Laboratory for Birth Defects Research and Prevention of the National Health Commission, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, PR China.
Mei HeKey Laboratory for Birth Defects Research and Prevention of the National Health Commission, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, PR China.
Xuan LuoKey Laboratory for Birth Defects Research and Prevention of the National Health Commission, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, PR China.
Hu PanKey Laboratory for Birth Defects Research and Prevention of the National Health Commission, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, PR China.
Juanli HuKey Laboratory for Birth Defects Research and Prevention of the National Health Commission, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, PR China.
Zhengqing WanDepartment of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, PR China.
Yin PengDepartment of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, PR China.
Yixiao LuoHunan Province People's Hospital, The First-Affiliated Hospital of Hunan Normal University, Changsha, Hunan, PR China. luoyx@hunnu.edu.cn.
Hua WangThe Affiliated Children's Hospital Of Xiangya School of Medicine, Central South Universityï (Hunan children's hospital), Changsha, Hunan, PR China. wanghua213@aliyun.com.
Xiao MaoKey Laboratory for Birth Defects Research and Prevention of the National Health Commission, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, PR China. gbtechies@outlook.com.

Funding

Clinical Medical Research Center For Hereditary Birth Defects and Rare Diseases In Hunan Province No. 2023SK4053Natural Science Foundation of Hunan Province, China No.2022JJ40206the Major Scientific and Technological Projects for Collaborative Prevention and Control of Birth Defects in Hunan Province, China No. 2019SK1010, 2019SK1014The National Key Research and Development Program of China No.2021YFC1005300
6 · The paper itself

Abstract

Selenium, an essential micronutrient integrated into selenoproteins as selenocysteine, is fundamental to human health. These selenoproteins are vital for several physiological functions, including maintaining redox balance, safeguarding DNA, and metabolizing thyroid hormones, and are produced via complex pathways involving Sec-tRNA

Indexed as

Cerebellar DiseasesCerebellumAtrophyChild, PreschoolFemaleHeterozygoteHumansDevelopmental delayEEFSEC geneOxidized lipidsProgressive cerebellar atrophySeleniumSelenoproteins

Identifiers

PMID40652205
PMCPMC12254956

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.