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Uncovering genomic causes of co-morbidity in epilepsy: Gene-driven phenotypic characterization of rare microdeletions

Kasperavičiute, D; Catarino, CB; Chinthapalli, K; Clayton, LMS; Thom, M; Martinian, L; Cohen, H; ... Sisodiya, SM; + view all (2011) Uncovering genomic causes of co-morbidity in epilepsy: Gene-driven phenotypic characterization of rare microdeletions. PLoS ONE , 6 (8) , Article e23182. 10.1371/journal.pone.0023182. Green open access

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Abstract

Background Patients with epilepsy often suffer from other important conditions. The existence of such co-morbidities is frequently not recognized and their relationship with epilepsy usually remains unexplained. Methodology/Principal Findings We describe three patients with common, sporadic, non-syndromic epilepsies in whom large genomic microdeletions were found during a study of genetic susceptibility to epilepsy. We performed detailed gene-driven clinical investigations in each patient. Disruption of the function of genes in the deleted regions can explain co-morbidities in these patients. Conclusions/Significance Co-morbidities in patients with epilepsy can be part of a genomic abnormality even in the absence of (known) congenital malformations or intellectual disabilities. Gene-driven phenotype examination can also reveal clinically significant unsuspected condition.

Type: Article
Title: Uncovering genomic causes of co-morbidity in epilepsy: Gene-driven phenotypic characterization of rare microdeletions
Open access status: An open access version is available from UCL Discovery
DOI: 10.1371/journal.pone.0023182
Publisher version: http://dx.doi.org/10.1371/journal.pone.0023182
Language: English
Additional information: © 2011 Kasperavičiūtė et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. This work was supported by grants from The Wellcome Trust (www.wellcome.ac.uk, grant code 084730), the United Kingdom Medical Research Council (www.mrc.ac.uk, grant code G0400126), UCLH CRDC (www.uclhcharity.org.uk, grant code F136), The National Institute for Health Research (www.nihr.ac.uk, grant code 08-08-SCC), the Epilepsy Society (www.epilepsysociety.org.uk), the Arthur James Paterson Charitable Trust and the Special Trustees of Great Ormond Street Hospital. This work was partly undertaken at UCLH/UCL, which received a proportion of funding from the Department of Health's NIHR Biomedical Research Centres funding scheme. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Experimental Epilepsy
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Haematology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
URI: https://discovery.ucl.ac.uk/id/eprint/1345001
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