Germline mosaicism in X-linked periventricular nodular heterotopia
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Ekşioğlu YZ, Schetter IE, Cardenas P, Knoll J, DiMario F, Ramsby G, Berg M, Kamuro K, Berkovic SF, Duyk GM, Parisi J, Huttenlocher PR, Walsh CA: Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron. 1996, 16: 77-87. 10.1016/S0896-6273(00)80025-2.
Guerrini R, Parrini E: Neuronal migration disorders. Neurobiol Dis. 2010, 38: 154-166. 10.1016/j.nbd.2009.02.008.
Online mendelian inheritance in man. http://www.omim.org/entry/300049?search=300049&highlight=300049,
Fox JW, Lamperti ED, Ekşioğlu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA: Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopias. Neuron. 1998, 21: 1315-1325. 10.1016/S0896-6273(00)80651-0.
Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Bernardina D, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Maldergem LV, Leonardi G, Wright M, Walsh CA, Guerrini R: Periventricular heterotopia: phenotypic heterogeneity and correlation with filamin A mutations. Brain. 2006, 129: 1892-1906. 10.1093/brain/awl125.
Fergelot P, Coupry I, Rooryck C, Deforges J, Maurat E, Solé G, Boute O, Dieux-Coeslier A, David A, Marchal C, Thambo JB, Lacombe D, Arveiler B, Goizet C: Atypical male and female presentations of FLNA-related periventricular nodular heterotopia. Eur J Med Genet. 2012, 55: 313-318. 10.1016/j.ejmg.2012.01.018.
Dobyns WB, Andermann E, Andermann F, Czapansky-Beilman D, Dubeau F, Dulac O, Guerrini R, Hirsch B, Ledbetter DH, Lee NS, Motte J, Pinard JM, Radtke RA, Ross ME, Tampieri D, Walsh CA, Truwit CI: X-linked malformations of neuronal migration. Neurology. 1996, 47: 331-339. 10.1212/WNL.47.2.331.
Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Krämer G, Moro F, Dobyns WB, Parrini E: Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. Neurology. 2004, 63: 51-565. 10.1212/01.WNL.0000132818.84827.4D.
Kasper BS, Kurzbuch K, Chang BS, Pauli E, Hamer HM, Winkler J, Hehr U: Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia. Am J Med Genet Part A. 2013, 161A: 1323-1328.
Robertson S, Thompson S, Morgan T, Holder-Espinasse M, Martinot-Duquenoy V, Wilkie AOM, Manouvrier-Hanu S: Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. Eur J Med Genet. 2006, 14: 549-554.
Rohlin A, Wernersson J, Engwall Y, Wiklund L, Björk J, Nording M: Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques. Hum Mutat. 2009, 30: 1012-1020. 10.1002/humu.20980.