Article
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).
American journal of human genetics - 1 Aug 2007
Kato Mitsuhiro, Saitoh Shinji, Kamei Atsushi, Shiraishi Hideaki, Ueda Yuki, Akasaka Manami, Tohyama Jun, Akasaka Noriyuki, Hayasaka Kiyoshi
Abstract excerpt
Early infantile epileptic encephalopathy with suppression-burst pattern (EIEE) is one of the most severe and earliest forms of epilepsy, often evolving into West syndrome; however, the pathogenesis of EIEE remains unclear. ARX is a crucial gene for the development of interneurons in the fetal brain, and a polyalanine expansion mutation of ARX causes mental retardation and seizures, including those of West...
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