| Aicardi syndrome in a male patient. | |
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MedLine Citation:
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PMID: 19639527 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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S Anderson; B Menten; M von Kogelenberg; S Robertson; M Waginger; H-J Mentzel; U Brandl; G Skirl; P Willems |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-07-28 |
Journal Detail:
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Title: Neuropediatrics Volume: 40 ISSN: 1439-1899 ISO Abbreviation: Neuropediatrics Publication Date: 2009 Feb |
Date Detail:
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Created Date: 2009-07-29 Completed Date: 2009-10-16 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8101187 Medline TA: Neuropediatrics Country: Germany |
Other Details:
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Languages: eng Pagination: 39-42 Citation Subset: IM |
Copyright Information:
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Copyright Georg Thieme Verlag KG Stuttgart New York. |
Affiliation:
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Department of Neuropaediatrics, Childrens Hospital, Friedrich-Schiller-University, Jena, Germany. s.anderson@web.de |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Choroid
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abnormalities* Contractile Proteins / genetics Corpus Callosum / abnormalities* Electroencephalography / methods Humans Infant Male Microfilament Proteins / genetics Mutation Spasms, Infantile / genetics, pathology*, physiopathology* X-Ray Microtomography / methods |
| Chemical | |
Reg. No./Substance:
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0/Contractile Proteins; 0/Microfilament Proteins; 0/filamins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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