Rett Syndrome

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57. Amir RE, Fang P, Yu Z, Glaze DG, Percy AK, Zoghbi HY et al. Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. J Med Genet 2005; 42(2): e15.

58. Trappe R, Laccone F, Cobilanschi J, Meins M, Huppke P, Hanefeld F et al. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. Am J Hum Genet 2001; 68(5): 1093– 1101.

59. Wan M, Lee SS, Zhang X, Houwink- Manville I, Song HR, Amir RE et al. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet 1999; 65(6): 1520– 1529.

60. Matijevic T, Knezevic J, Slavica M, Pavelic J. Rett syndrome: from the gene to the disease. Eur Neurol 2009; 61(1): 3– 10.

61. Huppke P, Held M, Hanefeld F, Engel W, Laccone F.Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. Neuropediatrics 2002; 33(2): 63– 68.

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65. Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO et al. Specific mutations in methyl- CpG‑binding protein 2 confer different severity in Rett syndrome. Neurology 2008; 70(16): 1313– 1321.

66. Takahashi S, Ohinata J, Makita Y, Suzuki N, Araki A,Sasaki A et al. Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome. Clin Genet 2008; 73(3): 257– 261.

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74. Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R et al. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early- onset seizure variant of Rett syndrome. Hum Mol Genet 2005; 14(14): 1935– 1946.

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83. Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol- Rosseto A et al. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008; 83(1): 89– 93.

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