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Article

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

Scientific reports - 24 Mar 2026

Liu Wenwei, Chen Miaomiao, Tang Xiaowei, Zhu Ying, Li Yufen, Liang Ling, Wu Zhongyan, Jiang Yuwu, Yin Yuxin, Mei Fan, Zhang Yuehua

Abstract excerpt

This study delineated the clinical phenotypes of epilepsy patients harboring TUBB2A variants and explored the pathogenesis of novel variants in HEK293T cells. The clinical data of 5 epilepsy patients in our cohort and 23 epilepsy patients from published studies carrying TUBB2A variants were evaluated. TUBB2A-FLAG and TUBB2A-EGFP plasmids were constructed to investigate the functional implications of TUBB2A...

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Share to Child, Preschool
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

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Source

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Identifiers

PMID: 41872443
DOI: 10.1038/s41598-026-44992-6
PMCID: PMC13168347

Genes

TUBB2A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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