References

These sources were used to develop the Genetics Home Reference condition summary on polymicrogyria.

Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA. Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation. Neurology. 2004 May 25;62(10):1722-8. Review. PubMed citation
Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A. 2008 Jul 1;146A(13):1637-54. doi: 10.1002/ajmg.a.32293. PubMed citation
Gene Review: Polymicrogyria
Guerreiro MM, Andermann E, Guerrini R, Dobyns WB, Kuzniecky R, Silver K, Van Bogaert P, Gillain C, David P, Ambrosetto G, Rosati A, Bartolomei F, Parmeggiani A, Paetau R, Salonen O, Ignatius J, Borgatti R, Zucca C, Bastos AC, Palmini A, Fernandes W, Montenegro MA, Cendes F, Andermann F. Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment. Ann Neurol. 2000 Jul;48(1):39-48. PubMed citation
Guerrini R, Barkovich AJ, Sztriha L, Dobyns WB. Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. Neurology. 2000 Feb 22;54(4):909-13. PubMed citation
Jansen A, Andermann E. Genetics of the polymicrogyria syndromes. J Med Genet. 2005 May;42(5):369-78. Review. PubMed citation
Ohtsuka Y, Tanaka A, Kobayashi K, Ohta H, Abiru K, Nakano K, Oka E. Childhood-onset epilepsy associated with polymicrogyria. Brain Dev. 2002 Dec;24(8):758-65. PubMed citation
Parrini E, Ferrari AR, Dorn T, Walsh CA, Guerrini R. Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. Epilepsia. 2009 Jun;50(6):1344-53. doi: 10.1111/j.1528-1167.2008.01787.x. Epub 2008 Oct 6. PubMed citation
Piao X, Chang BS, Bodell A, Woods K, Benzeev B, Topcu M, Guerrini R, Goldberg-Stern H, Sztriha L, Dobyns WB, Barkovich AJ, Walsh CA. Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol. 2005 Nov;58(5):680-7. PubMed citation
Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, Massey RF, McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N, Leventer RJ, Pilz DT, Dobyns WB. Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A. 2006 Nov 15;140(22):2416-25. PubMed citation


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