JLE

Epileptic Disorders

MENU

Electroclinical and cytogenetic features of epilepsy in cri-du-chat syndrome Volume 17, numéro 4, December 2015

  • [Bonkowsky et al., 2008] Bonkowsky JL, Nance MA, Hauser W, Anderson VE. Genetic diseases associated with epilepsy. In: Engel J, Pedley TA. Epilepsy: A comprehensive textbook. Second edition. Philadelphia Wolters Kluwer Health/Lippincott Williams & Wilkins, 2008: 183-93.
  • [Cerruti Mainardi, 2006] Cerruti Mainardi P. Cri du chat syndrome. Orphanet J Rare Dis. 2006;1:33.
  • [Cerruti Mainardi et al., 2006] Cerruti Mainardi P., Pastore G., Castronovo C. The natural history of cri du chat syndrome. A report from the Italian Register. Eur J Med Genet. 2006;49:363-383. 5
  • [Cornish and Pigram, 1996] Cornish K.M., Pigram J. Developmental and behavioural characteristics of cri du chat syndrome. Arch Dis Child. 1996;75:448-450. 5
  • [Engel, 2013] Engel J. Causes of human epilepsy. In: Engel J. Seizures and Epilepsy. Second Edition. New York: Oxford University Press, 2013: 45-52, 157-90.
  • [Johnson et al., 2000] Johnson E.I., Marinescu R.C., Punnett H.H., Tenenholz B., Overhauser J. 5p14 deletion associated with microcephaly and seizures. J Med Genet. 2000;37:125-127. 2
  • [Kumada et al., 2005] Kumada T., Ito M., Miyajima T. Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy. Brain Dev. 2005;27:127-134. 2
  • [Loscalzo et al., 2008] Loscalzo M.L., Becker T.A., Sutcliffe M. A patient with an interstitial duplication of chromosome 5p11-p13.3 further confirming a critical region for 5p duplication syndrome. Eur J Med Genet. 2008;51:54-60. 1
  • [Niebuhr, 1978] Niebuhr E. The cri du chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet. 1978;44:227-275. 3
  • [Overhauser et al., 1986] Overhauser J., Golbus M.S., Schonberg S.A., Wasmuth J.J. Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype. Am J Hum Genet. 1986;39:1-10. 1
  • [Rodriguez-Caballero et al., 2010] Rodriguez-Caballero A., Torres-Lagares D., Rodriguez-Perez A., Serrera-Figallo M.A., Hernandez-Guisado J.M., Machuca-Portillo G. Cri du chat syndrome: a critical review. Med Oral Patol Oral Cir Bucal. 2010;15:e473-e478. 3
  • [Tsao et al., 2005] Tsao C.Y., Wenger G.D., Bartholomew D.W. Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia. Am J Med Genet A. 2005;134A:198-201. 2