Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.
作者： Kenji Kurosawa , Hiroshi Kawame , Nobuhiko Okamoto , Yukikatsu Ochiai , Akira Akatsuka
DOI: 10.1016/J.BRAINDEV.2005.02.004
关键词: 1p36 deletion syndrome 、 Fluorescence in situ hybridization 、 Chromosome 、 Karyotype 、 Haploinsufficiency 、 Variable number tandem repeat 、 Pathology 、 Chromosomal Deletion 、 Genetics 、 Biology 、 Epilepsy
摘要: … Although haploinsufficiency of the potassium channel beta-subunit (KCNAB2) is thought to be responsible for intractable seizures in the 1p36 deletion syndrome, this was not the case …
elsevier.com
sci-hub.se 参考文章(14)
Stuart K Shapira, Christopher McCaskill, Hope Northrup, Aimee S Spikes, FFB Elder, V Reid Sutton, Julie R Korenberg, Frank Greenberg, Lisa G Shaffer, None, Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. American Journal of Human Genetics. ,vol. 61, pp. 642- 650 ,(1997) , 10.1086/515520
Shinichi Hirose, Motohiro Okada, Kazuhiro Yamakawa, Takashi Sugawara, Goryu Fukuma, Masatoshi Ito, Sunao Kaneko, Akihisa Mitsudome, Genetic abnormalities underlying familial epilepsy syndromes Brain and Development. ,vol. 24, pp. 211- 222 ,(2002) , 10.1016/S0387-7604(02)00056-6
Jonathan Flint, Andrew O.M. Wilkie, Veronica J. Buckle, Robin M. Winter, Anthony J. Holland, Heather E. McDermid, The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nature Genetics. ,vol. 9, pp. 132- 140 ,(1995) , 10.1038/NG0295-132
Heidi A. Heilstedt, Daniel L. Burgess, Anne E. Anderson, Aziza Chedrawi, Barry Tharp, Olivia Lee, Catherine D. Kashork, David E. Starkey, Yuan-Qing Wu, Jeffrey L. Noebels, Lisa G. Shaffer, Stuart K. Shapira, Loss of the Potassium Channel β-Subunit Gene, KCNAB2, Is Associated with Epilepsy in Patients with 1p36 Deletion Syndrome Epilepsia. ,vol. 42, pp. 1103- 1111 ,(2002) , 10.1046/J.1528-1157.2001.08801.X
Mitsuo Masuno, Kiyoshi Imaizumi, Kenji Kurosawa, Yoshio Makita, Fred Petrij, Hans G. Dauwerse, Martijn H. Breuning, Yoshikazu Kuroki, Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome. American Journal of Medical Genetics. ,vol. 53, pp. 352- 354 ,(1994) , 10.1002/AJMG.1320530409
Heidi A. Heilstedt, Blake C. Ballif, Leslie A. Howard, Richard A. Lewis, Samuel Stal, Catherine D. Kashork, Carlos A. Bacino, Stuart K. Shapira, Lisa G. Shaffer, Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. American Journal of Human Genetics. ,vol. 72, pp. 1200- 1212 ,(2003) , 10.1086/375179
N. Okamoto, Y. Toribe, T. Nakajima, T. Okinaga, K. Kurosawa, I. Nonaka, O. Shimokawa, N. Matsumoto, A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy Journal of Human Genetics. ,vol. 47, pp. 556- 559 ,(2002) , 10.1007/S100380200085
Samantha JL Knight, Regina Regan, Alison Nicod, Sharon W Horsley, Lyndal Kearney, Tessa Homfray, Robin M Winter, Patrick Bolton, Jonathan Flint, Subtle chromosomal rearrangements in children with unexplained mental retardation. The Lancet. ,vol. 354, pp. 1676- 1681 ,(1999) , 10.1016/S0140-6736(99)03070-6
Mariluce Riegel, Claudio Castellan, Damina Balmer, Lukrecija Brecevic, Albert Schinzel, Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes. American Journal of Medical Genetics. ,vol. 82, pp. 249- 253 ,(1999) , 10.1002/(SICI)1096-8628(19990129)82:3<249::AID-AJMG10>3.0.CO;2-8
Agatino Battaglia, John C. Carey, Diagnostic evaluation of developmental delay/mental retardation: An overview. American Journal of Medical Genetics Part C-seminars in Medical Genetics. ,vol. 117, pp. 3- 14 ,(2003) , 10.1002/AJMG.C.10015