Associated Papers
Transforming refractory epilepsy management: Trio-WES for enhanced genetic diagnosis and prognosis in children.
Chen Y et al.
Seizure, 2025
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.
Urreizti R et al.
American Journal of Medical Genetics. Part A, 2025
[Clinical phenotype and genetic analysis of a child with Cortical dysplasia, complex, with other brain malformations 4 and epilepsy due to a TUBG1 gene variant].
Chen S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Craniosynostosis Associated With Novel TUBG1 Mutation (NM_001070.4:c.821C>T) (p.Thr274Ile).
Ash AS et al.
Cureus, 2024
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
Frisk S et al.
Molecular Genetics & Genomic Medicine, 2022
A novel TUBG1 mutation with neurodevelopmental disorder caused by malformations of cortical development.
Shen R et al.
Biomed Research International, 2021
Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations.
Yuen YTK et al.
Bmc Medical Genetics, 2019
TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.
Ivanova EL et al.
Nature Communications, 2019
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Di Donato N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29671837 (PubMed )
Supplement: NIHMS934304-supplement-Supplementary_table_2.pdf
Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
Brock S et al.
European Journal of Human Genetics : Ejhg, 2018
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