Article
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
Annals of neurology - 1 Sept 2015
Nakashima Mitsuko, Saitsu Hirotomo, Takei Nobuyuki, Tohyama Jun, Kato Mitsuhiro, Kitaura Hiroki, Shiina Masaaki, Shirozu Hiroshi, Masuda Hiroshi, Watanabe Keisuke, Ohba Chihiro, Tsurusaki Yoshinori, Miyake Noriko, Zheng Yingjun, Sato Tatsuhiro, Takebayashi Hirohide, Ogata Kazuhiro, Kameyama Shigeki, Kakita Akiyoshi, Matsumoto Naomichi
Abstract excerpt
OBJECTIVE: Focal cortical dysplasia (FCD) type IIb is a cortical malformation characterized by cortical architectural abnormalities, dysmorphic neurons, and balloon cells. It has been suggested that FCDs are caused by somatic mutations in cells in the developing brain. Here, we explore the possible involvement of somatic mutations in FCD type IIb. METHODS: We collected a total of 24 blood-brain paired samples...
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