Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/17330
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dc.contributor.authorWeaving, L.en
dc.contributor.authorEllaway, C.en
dc.contributor.authorGecz, J.en
dc.contributor.authorChristodoulou, J.en
dc.date.issued2005en
dc.identifier.citationJournal of Medical Genetics, 2005; 42(1):1-7en
dc.identifier.issn0022-2593en
dc.identifier.issn1468-6244en
dc.identifier.urihttp://hdl.handle.net/2440/17330-
dc.description© 2005 BMJ Publishing Group Ltden
dc.description.abstractRett syndrome (RS) is a severe neurodevelopmental disorder that contributes significantly to severe intellectual disability in females worldwide. It is caused by mutations in MECP2 in the majority of cases, but a proportion of atypical cases may result from mutations in CDKL5, particularly the early onset seizure variant. The relationship between MECP2 and CDKL5, and whether they cause RS through the same or different mechanisms is unknown, but is worthy of investigation. Mutations in MECP2 appear to give a growth disadvantage to both neuronal and lymphoblast cells, often resulting in skewing of X inactivation that may contribute to the large degree of phenotypic variation. MeCP2 was originally thought to be a global transcriptional repressor, but recent evidence suggests that it may have a role in regulating neuronal activity dependent expression of specific genes such as Hairy2a in Xenopus and Bdnf in mouse and rat.en
dc.description.statementofresponsibilityL S Weaving, C J Ellaway, J Gécz, J Christodoulouen
dc.language.isoenen
dc.publisherBritish Med Journal Publ Groupen
dc.subjectBDNF, brain derived neurotrophic factor; CDKL5, cyclin dependent kinase-like 5; ISSX, infantile spasms syndrome, X linked; MECP2, methyl-CpG binding protein 2; MR, mental retardation; ORF, open reading frame; RS, Rett syndrome; STK9, serine threonine kinase 9; XLRS, X linked retinoschisisen
dc.titleRett syndrome: clinical review and genetic updateen
dc.typeJournal articleen
dc.identifier.rmid0020050084en
dc.identifier.doi10.1136/jmg.2004.027730en
dc.identifier.pubid55314-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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