TUBB2A encodes a beta-tubulin isotype that is a fundamental component of microtubules, serving as the structural constituent of the neuronal cytoskeleton 1. As part of alpha/beta-tubulin heterodimers, TUBB2A contributes to microtubule dynamics essential for neuronal proliferation, migration, differentiation, and axonal transport during brain development 2. The protein functions through GTP-dependent polymerization, where tubulin heterodimers incorporate into microtubules with GTP binding crucial for proper dimer formation 3. Pathogenic variants in TUBB2A cause tubulinopathies, a spectrum of neurodevelopmental disorders characterized by cortical malformations including simplified gyral patterns, microcephaly, and cerebellar hypoplasia 31. These mutations typically impair alpha/beta-tubulin heterodimer formation and microtubule function, disrupting neuronal migration and brain development 4. Clinical manifestations include infantile-onset epilepsy, intellectual disability, movement disorders, and severe behavioral abnormalities, though milder phenotypes without intellectual disability have been reported 5. Prenatal diagnosis is possible through fetal imaging showing characteristic features like ventriculomegaly and cerebellar abnormalities 6. While most cases are de novo mutations causing severe phenotypes, some inherited variants are associated with attenuated clinical presentations 5.