Article
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
BMC medical genetics - 13 Jan 2017
Negishi Yutaka, Miya Fuyuki, Hattori Ayako, Johmura Yoshikazu, Nakagawa Motoo, Ando Naoki, Hori Ikumi, Togawa Takao, Aoyama Kohei, Ohashi Kei, Fukumura Shinobu, Mizuno Seiji, Umemura Ayako, Kishimoto Yoko, Okamoto Nobuhiko, Kato Mitsuhiro, Tsunoda Tatsuhiko, Yamasaki Mami, Kanemura Yonehiro, Kosaki Kenjiro, Nakanishi Makoto, Saitoh Shinji
Abstract excerpt
BACKGROUND: Constitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly remains to be elucidated, and molecular diagnosis is challenging. Here, we have successfully established a combination of genetic and biochemical methods for diagnosis of mTOR pathway-associated...
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