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

作者: Jae Seok Lim , Woo-il Kim , Hoon-Chul Kang , Se Hoon Kim , Ah Hyung Park

DOI: 10.1038/NM.3824

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摘要: … Notably, brain magnetic resonance imaging (MRI) of patients with FCDII is occasionally reported to be … JSL performed bioinformatics analysis with SK and JKJSL and WK performed …

参考文章(44)
Mitsuko Nakashima, Hirotomo Saitsu, Nobuyuki Takei, Jun Tohyama, Mitsuhiro Kato, Hiroki Kitaura, Masaaki Shiina, Hiroshi Shirozu, Hiroshi Masuda, Keisuke Watanabe, Chihiro Ohba, Yoshinori Tsurusaki, Noriko Miyake, Yingjun Zheng, Tatsuhiro Sato, Hirohide Takebayashi, Kazuhiro Ogata, Shigeki Kameyama, Akiyoshi Kakita, Naomichi Matsumoto, Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb Annals of Neurology. ,vol. 78, pp. 375- 386 ,(2015) , 10.1002/ANA.24444
Yoon Hee Kim, Hoon-Chul Kang, Dong-Seok Kim, Se Hoon Kim, Kyu-Won Shim, Heung Dong Kim, Joon Soo Lee, Neuroimaging in identifying focal cortical dysplasia and prognostic factors in pediatric and adolescent epilepsy surgery Epilepsia. ,vol. 52, pp. 722- 727 ,(2011) , 10.1111/J.1528-1167.2010.02950.X
Darcy A. Krueger, Angus A. Wilfong, Katherine Holland-Bouley, Anne E. Anderson, Karen Agricola, Cindy Tudor, Maxwell Mays, Christina M. Lopez, Mi-Ok Kim, David Neal Franz, Everolimus treatment of refractory epilepsy in tuberous sclerosis complex. Annals of Neurology. ,vol. 74, pp. 679- 687 ,(2013) , 10.1002/ANA.23960
Ingrid E. Scheffer, Sarah E. Heron, Brigid M. Regan, Simone Mandelstam, Douglas E. Crompton, Bree L. Hodgson, Laura Licchetta, Federica Provini, Francesca Bisulli, Lata Vadlamudi, Jozef Gecz, Alan Connelly, Paolo Tinuper, Michael G. Ricos, Samuel F. Berkovic, Leanne M. Dibbens, Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Annals of Neurology. ,vol. 75, pp. 782- 787 ,(2014) , 10.1002/ANA.24126
Eleonora Aronica, Albert J. Becker, Roberto Spreafico, Malformations of Cortical Development Brain Pathology. ,vol. 22, pp. 380- 401 ,(2012) , 10.1111/J.1750-3639.2012.00581.X
Nadia Colombo, Laura Tassi, Francesco Deleo, Alberto Citterio, Manuela Bramerio, Roberto Mai, Ivana Sartori, Francesco Cardinale, Giorgio Lo Russo, Roberto Spreafico, Focal cortical dysplasia type IIa and IIb: MRI aspects in 118 cases proven by histopathology Neuroradiology. ,vol. 54, pp. 1065- 1077 ,(2012) , 10.1007/S00234-012-1049-1
J. Urano, T. Sato, T. Matsuo, Y. Otsubo, M. Yamamoto, F. Tamanoi, Point mutations in TOR confer Rheb-independent growth in fission yeast and nutrient-independent mammalian TOR signaling in mammalian cells Proceedings of the National Academy of Sciences of the United States of America. ,vol. 104, pp. 3514- 3519 ,(2007) , 10.1073/PNAS.0608510104
Peter B. Crino, mTOR: A pathogenic signaling pathway in developmental brain malformations Trends in Molecular Medicine. ,vol. 17, pp. 734- 742 ,(2011) , 10.1016/J.MOLMED.2011.07.008
Julie Chen, Victoria Tsai, Whitney E. Parker, Eleonora Aronica, Marianna Baybis, Peter B. Crino, Detection of Human Papillomavirus in Human Focal Cortical Dysplasia Type IIB Annals of Neurology. ,vol. 72, pp. 881- 892 ,(2012) , 10.1002/ANA.23795
Alfred L. George, Inherited Channelopathies Associated with Epilepsy Epilepsy Currents. ,vol. 4, pp. 65- 70 ,(2004) , 10.1111/J.1535-7597.2004.42010.X