Review
doi: 10.1038/sj.ejhg.5201580.
Rett syndrome: new clinical and molecular insights
Affiliations
- PMID: 16865103
- DOI: 10.1038/sj.ejhg.5201580
Item in Clipboard
Review
Rett syndrome: new clinical and molecular insights
Eur J Hum Genet.
2006 Aug.
Abstract
In this review, we give a clinical overview of Rett syndrome (RTT), and provide a framework for clinical and molecular approaches to the diagnosis of this severe neurodevelopmental disorder. We also discuss issues that need to be considered in the management of RTT patients, and raise some of the challenges associated with genetic counselling.
Similar articles
-
Mouse models of Rett syndrome: from behavioural phenotyping to preclinical evaluation of new therapeutic approaches.Behav Pharmacol. 2008 Sep;19(5-6):501-17. doi: 10.1097/FBP.0b013e32830c3645. Behav Pharmacol. 2008. PMID: 18690105 Review.
-
Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.Clin Genet. 2006 Apr;69(4):319-26. doi: 10.1111/j.1399-0004.2006.00604.x. Clin Genet. 2006. PMID: 16630165
-
[Rett syndrome: clinical and molecular aspects].Cas Lek Cesk. 2007;146(8):647-52. Cas Lek Cesk. 2007. PMID: 17874730 Review. Czech.
-
Medicine. Rett symptoms reversed in mice.Science. 2007 Feb 9;315(5813):749. doi: 10.1126/science.315.5813.749a. Science. 2007. PMID: 17289948 No abstract available.
-
The ups and downs of BDNF in Rett syndrome.Neuron. 2006 Feb 2;49(3):321-3. doi: 10.1016/j.neuron.2006.01.014. Neuron. 2006. PMID: 16446133 Review.
Cited by
-
Altered carbon dioxide metabolism and creatine abnormalities in rett syndrome.JIMD Rep. 2012;3:117-24. doi: 10.1007/8904_2011_76. Epub 2011 Sep 28. JIMD Rep. 2012. PMID: 23430883 Free PMC article.
-
Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain.BMC Neurosci. 2010 Apr 26;11:53. doi: 10.1186/1471-2202-11-53. BMC Neurosci. 2010. PMID: 20420693 Free PMC article.
-
Common variants on Xq28 conferring risk of schizophrenia in Han Chinese.Schizophr Bull. 2014 Jul;40(4):777-86. doi: 10.1093/schbul/sbt104. Epub 2013 Sep 16. Schizophr Bull. 2014. PMID: 24043878 Free PMC article.
-
MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors.J Mol Med (Berl). 2015 Jan;93(1):63-72. doi: 10.1007/s00109-014-1202-x. Epub 2014 Sep 12. J Mol Med (Berl). 2015. PMID: 25209898
-
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.Eur J Hum Genet. 2015 Feb;23(2):195-201. doi: 10.1038/ejhg.2014.81. Epub 2014 Jun 11. Eur J Hum Genet. 2015. PMID: 24916645 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
