| Detection of microchromosomal aberrations in refractory epilepsy: a pilot study. | |
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MedLine Citation:
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PMID: 20643615 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Seizures often occur in patients with microchromosomal aberrations responsible for moderate to severe intellectual disability. We hypothesised that epilepsy alone could be caused by microdeletions or microduplications, which might also relate to epilepsy refractory to medication. Chromosomes from 20 subjects with epilepsy and repeated failure of antiepileptic medication were examined using molecular methods. Firstly, the 41 subtelomeric regions were scanned using fluorescence in situ hybridization and multiplex ligation-dependent probe amplification. Secondly, a genome-wide scan was carried out using oligonucleotide-array comparative genome hybridisation on two platforms: Nimblegen and Agilent. Two aberrations (2/20) were identified: a recurrent microdeletion at 15q13.3 previously characterised in patients with seizures that generally respond to medication, and a novel 1.15 Mb microchromosomal duplication at 10q21.2 also present in the unaffected mother. We conclude that gene content of microchromosomal aberrations is not a major cause of refractory seizures, but that microchromosomal anomalies are found in an appreciable fraction of such cases. |
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Authors:
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Jacinta M McMahon; Ingrid E Scheffer; Jillian K Nicholl; Wendy Waters; Helen Eyre; Lyn Hinton; Paul Nelson; Sui Yu; Leanne M Dibbens; Samuel F Berkovic; John C Mulley |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-07-19 |
Journal Detail:
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Title: Epileptic disorders : international epilepsy journal with videotape Volume: 12 ISSN: 1294-9361 ISO Abbreviation: Epileptic Disord Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-09-08 Completed Date: 2010-10-29 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100891853 Medline TA: Epileptic Disord Country: France |
Other Details:
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Languages: eng Pagination: 192-8 Citation Subset: IM |
Affiliation:
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Department of Medicine, University of Melbourne, Australia. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child, Preschool Chromosome Aberrations* Chromosomes, Human, Pair 10 / genetics Chromosomes, Human, Pair 15 / genetics Comparative Genomic Hybridization Epilepsy / genetics*, pathology Female Gene Amplification Humans In Situ Hybridization, Fluorescence Male Pilot Projects Sequence Deletion Telomere / pathology Young Adult |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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