A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease

Abstract 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 w...

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Veröffentlicht in:	Brain & development (Tokyo. 1979) 2014-02, Vol.36 (2), p.159-162
Hauptverfasser:	Hikita, Norikatsu, Hattori, Hideji, Kato, Mitsuhiro, Sakuma, Satoru, Morotomi, Yoshiki, Ishida, Hiroshi, Seto, Toshiyuki, Tanaka, Katsuji, Shimono, Taro, Shintaku, Haruo, Tokuhara, Daisuke
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Epilepsy - diagnosis Epilepsy - etiology Epilepsy - genetics Female Genetic Predisposition to Disease Hirschsprung disease Hirschsprung Disease - complications Hirschsprung Disease - diagnosis Hirschsprung Disease - genetics Humans Lissencephaly Lissencephaly - complications Lissencephaly - diagnosis Lissencephaly - genetics Microcephaly Mutation - genetics Neurology Phenotype Syndrome of inappropriate antidiuretic hormone secretion (SIADH) TUBA1A Tubulin - genetics
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