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  • Title: TUBA1A mutation-associated lissencephaly: case report and review of the literature.
    Author: Sohal AP, Montgomery T, Mitra D, Ramesh V.
    Journal: Pediatr Neurol; 2012 Feb; 46(2):127-31. PubMed ID: 22264709.
    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.
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