Linked Life Data

19428276

Source:http://linkedlifedata.com/resource/pubmed/id/19428276

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2010-2-15
pubmed:abstractText
Classic Rett Syndrome (RS) is a neurodevelopmental disorder due to mutations in the MECP2 gene in Xq28. Atypical RS with severe early-onset encephalopathy and therapy-resistant epilepsy can be due to mutations in the CDKL5 (Cyclin-Dependent Kinase-like 5) gene in Xp22. We here report a 14-year-old female with a RS-like clinical picture, and well-controlled seizures. MECP2 gene testing was negative, but subsequent sequencing of the CDKL5 gene revealed the c. 2908 C>T nonsense mutation (p.Arg970X) in the last exon, not previously described in other patients or controls. The less severe phenotype might be due to the position of the mutation in the last exon of the CDKL5 gene.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1532-2130
pubmed:author
pubmed:copyrightInfo
2009 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
188-91
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.
pubmed:affiliation
Medical Genetics, University of Athens, Thivon and Levadias Street, Goudi 11527, Athens, Greece. psonistavroula@gmail.com
pubmed:publicationType
Journal Article, Case Reports