Linked Life Data

19639527

Source:http://linkedlifedata.com/resource/pubmed/id/19639527

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2009-7-29
pubmed:abstractText
Aicardi syndrome ( OMIM 304050) is defined by the clinical triad of early-onset infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. Almost all patients are females showing severe cognitive and physical disabilities, and early onset seizures. Astrocytic inclusions containing filamin have been found, but the molecular defect in Aicardi syndrome is not yet known. We report a male patient with Aicardi syndrome characterised by agenesis of the corpus callosum, infantile spasms, chorioretinal lacunae, severe psychomotor retardation, periventricular heterotopias, and patent ductus arteriosus. As the latter two symptoms are suggestive of a mutation in the FLNA gene encoding filamin A, this gene was sequenced, but the sequence did not reveal a disease-causing mutation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1439-1899
pubmed:author
pubmed:copyrightInfo
Copyright Georg Thieme Verlag KG Stuttgart New York.
pubmed:issnType
Electronic
pubmed:volume
40
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
39-42
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Aicardi syndrome in a male patient.
pubmed:affiliation
Department of Neuropaediatrics, Childrens Hospital, Friedrich-Schiller-University, Jena, Germany. s.anderson@web.de
pubmed:publicationType
Journal Article, Case Reports