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Last Posted: Sep 02, 2021

• Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
  Spagnoli Carlotta et al. Genes 2021 12(8)
• Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls.
  Lallar Meenakshi et al. Indian pediatrics 2018 55(6) 474-477
• Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.
  Záhoráková D, et al. Folia biologica 2016 0 (2) 67-74
• Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
  Olson Heather E, et al. American journal of medical genetics. Part A 2015 9 (9) 2017-25
• Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.
  Das DK, et al. Gene 2012 12
• Atypical Rett syndrome
  From NCATS Genetic and Rare Diseases Information Center
• Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
  Zweier Markus, et al. Human mutation 2010 6 (6) 722-33
• Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
  Nemos C, et al. Clinical genetics 2009 10 (4) 357-71
• Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
  Russo S, et al. Neurogenetics 2009 7 (3) 241-50
• Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
  Archer H L, et al. Journal of medical genetics 2006 5 (5) 451-6

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