Atypical Rett Syndrome
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
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 27, 2023
- Content source: