Malformations of cortical development

作者: Trudy Pang , Ramin Atefy , Volney Sheen

DOI: 10.1097/NRL.0B013E31816606B9

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摘要: Background:Malformations of cortical development (MCD) are increasingly recognized as an important cause epilepsy and developmental delay. MCD encompass a wide spectrum disorders with various underlying genetic etiologies clinical manifestations. High resolution imaging has dramatically im

参考文章(93)
H. E. Hoyme, L. Turlington, W. B. Dobyns, D. H. Ledbetter, C. J.R. Curry, Clinical and molecular diagnosis of Miller-Dieker syndrome. American Journal of Human Genetics. ,vol. 48, pp. 584- 594 ,(1991)
Nicole E. Faulkner, Denis L. Dujardin, Chin-Yin Tai, Kevin T. Vaughan, Christopher B. O'Connell, Yu-li Wang, Richard B. Vallee, A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function Nature Cell Biology. ,vol. 2, pp. 784- 791 ,(2000) , 10.1038/35041020
Aruto Yoshida, Kazuhiro Kobayashi, Hiroshi Manya, Kiyomi Taniguchi, Hiroki Kano, Mamoru Mizuno, Toshiyuki Inazu, Hideyo Mitsuhashi, Seiichiro Takahashi, Makoto Takeuchi, Ralf Herrmann, Volker Straub, Beril Talim, Thomas Voit, Haluk Topaloglu, Tatsushi Toda, Tamao Endo, Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Developmental Cell. ,vol. 1, pp. 717- 724 ,(2001) , 10.1016/S1534-5807(01)00070-3
L. Chen, G. Liao, L. Yang, K. Campbell, M. Nakafuku, C.-Y. Kuan, Y. Zheng, Cdc42 deficiency causes Sonic hedgehog-independent holoprosencephaly Proceedings of the National Academy of Sciences of the United States of America. ,vol. 103, pp. 16520- 16525 ,(2006) , 10.1073/PNAS.0603533103
François Dubeau, Donatella Tampieri, Namsoo Lee, Eva Andermann, Stirling Carpenter, Richard Leblanc, André Olivier, Rodney Radtke, Jean Guy Villemure, Frederick Andermann, Periventricular and subcortical nodular heterotopia : a study of 33 patients Brain. ,vol. 118, pp. 1273- 1287 ,(1995) , 10.1093/BRAIN/118.5.1273
Nathaniel H. Robin, Clare J. Taylor, Donna M. McDonald-McGinn, Elaine H. Zackai, Peter Bingham, Kevin J. Collins, Dawn Earl, Deepak Gill, Tiziana Granata, Renzo Guerrini, Naomi Katz, Virginia Kimonis, Jean-Pierre Lin, David R. Lynch, Shehla N. Mohammed, Roger F. Massey, Marie McDonald, R. Curtis Rogers, Miranda Splitt, Cathy A. Stevens, Marc D. Tischkowitz, Neil Stoodley, Richard J Leventer, Daniela T. Pilz, William B. Dobyns, Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation American Journal of Medical Genetics Part A. ,vol. 140, pp. 2416- 2425 ,(2006) , 10.1002/AJMG.A.31443
SA Anderson, DD Eisenstat, L Shi, JLR Rubenstein, Interneuron Migration from Basal Forebrain to Neocortex: Dependence on Dlx Genes Science. ,vol. 278, pp. 474- 476 ,(1997) , 10.1126/SCIENCE.278.5337.474
Elinor Ben-Menachem, Vagus-nerve stimulation for the treatment of epilepsy Lancet Neurology. ,vol. 1, pp. 477- 482 ,(2002) , 10.1016/S1474-4422(02)00220-X
E. Colombo, P. Collombat, G. Colasante, M. Bianchi, J. Long, A. Mansouri, J. L. R. Rubenstein, V. Broccoli, Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation The Journal of Neuroscience. ,vol. 27, pp. 4786- 4798 ,(2007) , 10.1523/JNEUROSCI.0417-07.2007
William B. Dobyns, Roberta A. Pagon, Dawna Armstrong, Cynthia J. R. Curry, Frank Greenberg, Arthur Grix, Lewis B. Holmes, Renata Laxova, Virginia V. Michels, Meinhard Robinow, Roberta L. Zimmerman, John M. Opitz, James F. Reynolds, Diagnostic criteria for Walker-Warburg syndrome. American Journal of Medical Genetics. ,vol. 32, pp. 195- 210 ,(1989) , 10.1002/AJMG.1320320213