Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

Deep sequencing identifies somatic activating mutations of MTOR in affected brain regions of FCDII patients that are sufficient to cause neuronal migration defects and epileptic seizures in mice. Focal cortical dysplasia type II (FCDII) is a sporadic developmental malformation of the cerebral cortex...

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Bibliographic Details
Published in:Nature medicine Vol. 21; no. 4; pp. 395 - 400
Main Authors: Lim, Jae Seok, Kim, Woo-il, Kang, Hoon-Chul, Kim, Se Hoon, Park, Ah Hyung, Park, Eun Kyung, Cho, Young-Wook, Kim, Sangwoo, Kim, Ho Min, Kim, Jeong A, Kim, Junho, Rhee, Hwanseok, Kang, Seok-Gu, Kim, Heung Dong, Kim, Daesoo, Kim, Dong-Seok, Lee, Jeong Ho
Format: Journal Article
Language:English
Published: New York Nature Publishing Group US 01.04.2015
Nature Publishing Group
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ISSN:1078-8956, 1546-170X
Online Access:Get full text
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