| Study (year, journal) | Cohort | Key phenotype stats | Variant/genetic stats | Diagnostic/testing stats | URL/DOI |
|---|---|---|---|---|---|
| Hebebrand et al. 2019, *Orphanet Journal of Rare Diseases* | 166 affected individuals total (146 born, 20 fetuses); HPO-standardized clinical data available for 107 cases | Developmental delay 98.1% (52/53); corpus callosum anomalies 96.2% (102/106); microcephaly 76.0% (57/75); lissencephaly/agyria-pachygyria 70.0% (67/96) (pqac-00000000, pqac-00000001, pqac-00000034) | 121 distinct TUBA1A variants identified, including 15 recurrent variants; missense variants clustered in the C-terminal region; Arg402 was the most commonly affected residue (13.3% of cases/variants reviewed) (pqac-00000000, pqac-00000014) | Exome sequencing identified heterozygous de novo missense variants in new cases; study also curated ClinVar/DECIPHER/denovo-db and applied ACMG-style interpretation workflows (pqac-00000000, pqac-00000001) | https://doi.org/10.1186/s13023-019-1020-x |
| Schröter et al. 2022, *European Journal of Human Genetics* | 10 unrelated individuals (8 living; 2 terminated pregnancies) | Epilepsy 75% (6/8); infantile onset among epilepsies 83%; refractory epilepsy 50%; global developmental delay 63%; severe motor impairment/tetraparesis 50% (pqac-00000021, pqac-00000020) | 9 missense variants reported (4 novel, 5 previously published); hotspot residues Arg264/Arg402/Arg422 together accounted for 55% of reported cases in the broader literature summarized by the authors (N=57) (pqac-00000022, pqac-00000023) | Systematic MRI re-evaluation plus protein-structure/prediction modeling; all reported MRIs abnormal; study emphasizes TUBA1A as a cause of congenital brain malformation with early-onset epilepsy (pqac-00000020, pqac-00000021, pqac-00000024) | https://doi.org/10.1038/s41431-021-01027-0 |
| Kooshavar et al. 2024, *Brain Communications* | 102 children with brain malformations in the Australian Genomics Brain Malformation Flagship; tubulinopathy subgroup n=10 | Tubulinopathy represented ~10% of the imaged/sequenced cohort; mean age at ES 5.4 years (pqac-00000008, pqac-00000011) | TUBA1A was the most frequent genetic diagnosis; 8/37 diagnoses from clinical singleton ES were TUBA1A (22% of solved clinical ES cases) (pqac-00000008, pqac-00000010) | Clinical singleton exome sequencing yield 36% (37/102), rising to 43% (44/102) after research reanalysis; tubulinopathy subgroup yield 90% (9/10); workflow included mandatory CMA first and phenotype-guided ES/reanalysis (pqac-00000008, pqac-00000009, pqac-00000010, pqac-00000011) | https://doi.org/10.1093/braincomms/fcae056 |


*Table: This table compiles the most clinically actionable quantitative findings from key TUBA1A-related tubulinopathy studies, including phenotype frequencies, variant hotspots, and real-world exome sequencing performance. It is useful for rapid knowledge-base curation and evidence-backed clinical summary.*