OSCR

TUBB2A related epilepsy: novel variants and genotype-phenotype correlation.

Overview

Authors: Wenwei Liu1, Miaomiao Chen1, Xiaowei Tang2, Ying Zhu3, Yufen Li4, Ling Liang2, Zhongyan Wu2, Yuwu Jiang1, Yuxin Yin2, Fan Mei2, Yuehua Zhang1
ORCID iDs: Zhongyan Wu
  1. Children’s Medical Center, Peking University First Hospital, Beijing, 100176 China
  2. Peking University Health Science Center, Beijing, 100083 China
  3. Department of Imaging, Peking University First Hospital, Beijing, 100034 China
  4. Department of Pediatrics, Linyi People’s Hospital, Shandong, 276002 China
Institutions: Peking University First Hospital (China); Peking University (China); Linyi People's Hospital (China)
Journal: Scientific reports, volume 16, issue 1, article 14821
Dates: received 21 May 2025; accepted 16 March 2026; published online 24 March 2026
Type: Research article · Language: English
License: CC BY-NC-ND
Identifiers: DOI 10.1038/s41598-026-44992-6 · PMID 41872443 · PMCID PMC13168347 · OpenAlex W7140194399
Open access: gold, a free copy (OpenAlex)
Status: data only (how the code is found and verified)
Categories: genetics / omics (modality), human (organism), other condition (population), epilepsy (population), developmental (subfield)
Methods: Physiology & signal measures
Keywords: Epilepsy, Pathogenesis of gene variant, Genotype-phenotype correlation, Malformation of cortical development, TUBB2A, Neurogenesis, Neurodevelopmental disorders
MeSH: Epilepsy*, Genetic Association Studies*, Tubulin*, Child, Child, Preschool, Female, HEK293 Cells, Humans, Infant, Infant, Newborn, Male, Mutation, Missense, Phenotype (* major topic)
Topic: Microtubule and mitosis dynamics (Cell Biology, Biochemistry, Genetics and Molecular Biology), according to OpenAlex
Funding: National Key Research and Development Program of China (2023YFC2706300，2023YFC2706301)
Citations: cited by 2 papers (Europe PMC); 21 references in the paper

Abstract

The abstract is not reproduced here: the paper's license (CC BY-NC-ND) does not allow it. Read it in the paper, at the publisher or on Europe PMC.

Code

The paper links to its data and to no code of its authors: see the Data section.

The paper's code and data availability statement is in the Data section.

Tracing map

A tracing map links a paper to the code its authors published: this paper has none, so it has no map.

Data

Datasets cited

Code and data availability statement

The paper has a code and data availability statement. Its license (CC BY-NC-ND) does not allow reproducing it here; in short, from what the harvester recognized in it:

Read it in the paper: doi.org/10.1038/s41598-026-44992-6.

Versions

The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.

Version 1, 30 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 11 authors, 7 keywords, 13 MeSH terms, 1 funder, 21 references.

Cite

This paper

Liu, W., Chen, M., Tang, X., Zhu, Y., Li, Y., Liang, L., Wu, Z., Jiang, Y., Yin, Y., Mei, F., & Zhang, Y. (2026). TUBB2A related epilepsy: novel variants and genotype-phenotype correlation. Scientific reports, 16(1), 14821. https://doi.org/10.1038/s41598-026-44992-6

BibTeX

@article{liu2026tubb2a,
author = {Liu, Wenwei and Chen, Miaomiao and Tang, Xiaowei and Zhu, Ying and Li, Yufen and Liang, Ling and Wu, Zhongyan and Jiang, Yuwu and Yin, Yuxin and Mei, Fan and Zhang, Yuehua},
title = {{TUBB2A related epilepsy: novel variants and genotype-phenotype correlation}},
journal = {Scientific reports},
year = {2026},
month = mar,
volume = {16},
number = {1},
pages = {14821},
publisher = {Nature Publishing Group},
issn = {2045-2322},
doi = {10.1038/s41598-026-44992-6},
url = {https://doi.org/10.1038/s41598-026-44992-6},
pmid = {41872443},
pmcid = {PMC13168347}
}

RIS

TY - JOUR
AU - Liu, Wenwei
AU - Chen, Miaomiao
AU - Tang, Xiaowei
AU - Zhu, Ying
AU - Li, Yufen
AU - Liang, Ling
AU - Wu, Zhongyan
AU - Jiang, Yuwu
AU - Yin, Yuxin
AU - Mei, Fan
AU - Zhang, Yuehua
TI - TUBB2A related epilepsy: novel variants and genotype-phenotype correlation
T2 - Scientific reports
J2 - Sci Rep
PY - 2026
DA - 2026/03/24
VL - 16
IS - 1
SP - 14821
SN - 2045-2322
PB - Nature Publishing Group
DO - 10.1038/s41598-026-44992-6
UR - https://doi.org/10.1038/s41598-026-44992-6
LA - en
ER -

CSL-JSON

{
"id": "10.1038/s41598-026-44992-6",
"type": "article-journal",
"title": "TUBB2A related epilepsy: novel variants and genotype-phenotype correlation",
"container-title": "Scientific reports",
"author": [
{
"family": "Liu",
"given": "Wenwei"
},
{
"family": "Chen",
"given": "Miaomiao"
},
{
"family": "Tang",
"given": "Xiaowei"
},
{
"family": "Zhu",
"given": "Ying"
},
{
"family": "Li",
"given": "Yufen"
},
{
"family": "Liang",
"given": "Ling"
},
{
"family": "Wu",
"given": "Zhongyan"
},
{
"family": "Jiang",
"given": "Yuwu"
},
{
"family": "Yin",
"given": "Yuxin"
},
{
"family": "Mei",
"given": "Fan"
},
{
"family": "Zhang",
"given": "Yuehua"
}
],
"container-title-short": "Sci Rep",
"volume": "16",
"issue": "1",
"page": "14821",
"DOI": "10.1038/s41598-026-44992-6",
"PMID": "41872443",
"PMCID": "PMC13168347",
"ISSN": "2045-2322",
"publisher": "Nature Publishing Group",
"URL": "https://doi.org/10.1038/s41598-026-44992-6",
"language": "en",
"issued": {
"date-parts": [
[
2026,
3,
24
]
]
}
}

Similar papers

The papers with a page that share the most with this one: the tools found in their code, their categories, datasets, cited references and authors, the rarest counting most.

[1] doi:10.1016/j.xhgg.2026.100654
Expanding the clinical and molecular spectrum of TUBB2B through distinct variants identified across multiple families.
Journal: HGG advances
In common: genetics / omics, 3 references
[2] doi:10.15252/embr.202255641 [code]
FAM69C functions as a kinase for eIF2α and promotes stress granule assembly.
Journal: EMBO reports
In common: author Zhongyan Wu
[3] doi:10.1038/s41467-024-51310-z
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Journal: Nature communications
In common: epilepsy, developmental, other condition, 2 references
[4] doi:10.3389/fnins.2023.1226181
TUBB3 and KIF21A in neurodevelopment and disease.
Journal: Frontiers in neuroscience
In common: developmental, genetics / omics, 2 references
[5] doi:10.1038/s41467-025-65634-x
Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.
Journal: Nature communications
In common: developmental, other condition, 2 references
[6] doi:10.3389/fnagi.2025.1540830
Substantia nigra and blood gene signatures and biomarkers for Parkinson's disease from integrated multicenter microarray-based transcriptomic analyses.
Journal: Frontiers in aging neuroscience
In common: genetics / omics, 2 references
[7] doi:10.1021/acsomega.5c13203
Investigating the Function of C‑Terminal Tails of Human Tubulin Isotypes in the Motility Regulation of Cytoplasmic Dynein.
Journal: ACS omega
In common: 2 references
[8] doi:10.1186/s13073-026-01699-7
De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.
Journal: Genome medicine
In common: epilepsy, developmental, genetics / omics, 1 other category, 1 reference
[9] doi:10.1186/s13023-025-04055-x
GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications
Journal: n/a
In common: epilepsy, developmental, genetics / omics, 1 other category, 1 reference
[10] doi:10.1016/j.gim.2025.101587 [code]
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
In common: epilepsy, developmental, genetics / omics, 1 other category, 1 reference

Contribute

The authors of this paper can claim it, correct its record and validate its tracing map, and the maintainers of its code (its owner, or a public member of its organization) correct what it says of their repository; anyone signed in can ask for its removal. Every request goes to OSCR's own machine, which answers it; your account page follows them.

Sign in with ORCID to claim this paper as one of its authors, correct its record or validate its tracing map: when the paper's metadata lists your ORCID iD, you are recognized at once. Maintainers of its code: sign in with GitHub, then claim the repository on your account page.

Request its removal

To ask OSCR to remove this record, the copies of its authors' scripts or its tracing map, use the removal request page: signed in, you say who you are, what to remove and why, then review and confirm the request. Published rules decide every request (how).

Discussion, reproductions, activity

Discussion: code errors and mismatches between the code and the paper about this paper and its code, from readers and its authors, beside the paper and its tracing map.

Reproductions: reports from readers who ran the authors' code and did not get the paper's result, what they ran, with which environment, commit and data.

Activity: what happens around this paper: new versions of its record, its map's validation, discussions and reproductions. It opens with sign-in.