NDLI: Structural genomic variation in childhood epilepsies with complex phenotypes

Content Provider	PubMed Central
Author	Helbig, Ingo Swinkels, Marielle E. M. Aten, Emmelien Caliebe, Almuth Slot, Ruben Van 't Boor, Rainer Von, Spiczak Sarah Muhle, Hiltrud Jähn, Johanna A. Van Binsbergen, Ellen Nieuwenhuizen, Onno Van Jansen, Floor E. Braun, Kees P. J. Haan, Gerrit-jan De Niels, Tommerup Stephani, Ulrich Helle, Hjalgrim Poot, Martin Lindhout, Dick Brilstra, Eva H. Møller, Rikke S. Koeleman, Bobby Pc
Copyright Year	2014
Abstract	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.
Related Links	http://dx.doi.org/10.1038/ejhg.2013.262
Ending Page	901
Page Count	6
Starting Page	896
File Format	PDF
ISSN	10184813
e-ISSN	14765438
Journal	European Journal of Human Genetics
Issue Number	7
Volume Number	22
Language	English
Publisher	Nature Publishing Group
Publisher Date	2014-07-01
Access Restriction	Open
Rights Holder	Nature Publishing Group
Subject Keyword	Genetics(clinical) Genetics Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
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3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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