TUBA1A mutation-associated lissencephaly: case report and review of the literature

Pediatr Neurol. 2012 Feb;46(2):127-31. doi: 10.1016/j.pediatrneurol.2011.11.017.


Lissencephaly is a disorder of neuronal migration resulting in abnormal cerebral cortical sulcation and gyration. Affected children present with microcephaly, developmental delay, and early-onset epileptic seizures. Recently, de novo missense mutations in the tubulin α-1A (TUBA1A) gene were identified as causing a distinctive radiologic phenotype comprising of posteriorly predominant lissencephaly with dysgenetic corpus callosum, cerebellar and brainstem hypoplasia, and more recently, polymicrogyria. We describe a 14-month-old girl with TUBA1A mutation-associated lissencephaly, and summarize the clinical and neuroradiologic findings of 19 cases in the literature.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Brain / abnormalities*
  • Cell Movement / genetics
  • Epilepsy / genetics*
  • Female
  • Humans
  • Infant
  • Lissencephaly / genetics*
  • Phenotype
  • Tubulin / genetics*


  • TUBA1A protein, human
  • Tubulin