Document Detail

Structural genomic variation in childhood epilepsies with complex phenotypes.
MedLine Citation:
PMID:  24281369     Owner:  NLM     Status:  Publisher    
A genetic contribution to a broad range of epilepsies has been postulated, and particularly copy number variations (CNVs) have emerged as significant genetic risk factors. However, the role of CNVs in patients with epilepsies with complex phenotypes is not known. Therefore, we investigated the role of CNVs in patients with unclassified epilepsies and complex phenotypes. A total of 222 patients from three European countries, including patients with structural lesions on magnetic resonance imaging (MRI), dysmorphic features, and multiple congenital anomalies, were clinically evaluated and screened for CNVs. MRI findings including acquired or developmental lesions and patient characteristics were subdivided and analyzed in subgroups. MRI data were available for 88.3% of patients, of whom 41.6% had abnormal MRI findings. Eighty-eight rare CNVs were discovered in 71 out of 222 patients (31.9%). Segregation of all identified variants could be assessed in 42 patients, 11 of which were de novo. The frequency of all structural variants and de novo variants was not statistically different between patients with or without MRI abnormalities or MRI subcategories. Patients with dysmorphic features were more likely to carry a rare CNV. Genome-wide screening methods for rare CNVs may provide clues for the genetic etiology in patients with a broader range of epilepsies than previously anticipated, including in patients with various brain anomalies detectable by MRI. Performing genome-wide screens for rare CNVs can be a valuable contribution to the routine diagnostic workup in patients with a broad range of childhood epilepsies.European Journal of Human Genetics advance online publication, 27 November 2013; doi:10.1038/ejhg.2013.262.
Ingo Helbig; Marielle E M Swinkels; Emmelien Aten; Almuth Caliebe; Ruben van 't Slot; Rainer Boor; Sarah von Spiczak; Hiltrud Muhle; Johanna A Jähn; Ellen van Binsbergen; Onno van Nieuwenhuizen; Floor E Jansen; Kees P J Braun; Gerrit-Jan de Haan; Niels Tommerup; Ulrich Stephani; Helle Hjalgrim; Martin Poot; Dick Lindhout; Eva H Brilstra; Rikke S Møller; Bobby Pc Koeleman
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-11-27
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  -     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2013 Nov 
Date Detail:
Created Date:  2013-11-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany.
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