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Article

A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.

Brain & development - 1 Feb 2014

Hikita Norikatsu, Hattori Hideji, Kato Mitsuhiro, Sakuma Satoru, Morotomi Yoshiki, Ishida Hiroshi, Seto Toshiyuki, Tanaka Katsuji, Shimono Taro, Shintaku Haruo, Tokuhara Daisuke

Abstract excerpt

Gene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS). The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes. Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel...

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PMID: 23528852
DOI: 10.1016/j.braindev.2013.02.006

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