Reference - PMID:22264709 - TUBA1A mutation-associated lissencephaly: case report and review of the literature.
Reference summary
- PubMed ID
- PMID:22264709
- Title
- TUBA1A mutation-associated lissencephaly: case report and review of the literature.
- Authors
- Sohal AP, Montgomery T, Mitra D, Ramesh V
- Citation
- Pediatr Neurol 2012 Feb;46(2):127-31
- Publication year
- 2012
- Abstract
- 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.
