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Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities.

Galizia, EC; Srikantha, M; Palmer, R; Waters, JJ; Lench, N; Ogilvie, CM; Kasperavičiūtė, D; ... Sisodiya, SM; + view all (2012) Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities. European Journal of Medical Genetics , 55 (5) 342 - 348. 10.1016/j.ejmg.2011.12.011. Green open access

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Abstract

The emergence of array comparative genomic hybridization (array CGH) as a diagnostic tool in molecular genetics has facilitated recognition of microdeletions and microduplications as risk factors for both generalised and focal epilepsies. Furthermore, there is evidence that some microdeletions/duplications, such as the 15q13.3 deletion predispose to a range of neuropsychiatric disorders, including intellectual disability (ID), autism, schizophrenia and epilepsy. We hypothesised that array CGH would reveal relevant findings in an adult patient group with epilepsy and complex phenotypes.

Type: Article
Title: Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities.
Location: Netherlands
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.ejmg.2011.12.011
Publisher version: http://dx.doi.org/10.1016/j.ejmg.2011.12.011
Language: English
Additional information: This work is made available under a Creative Commons license. PMCID: PMC3526772
Keywords: Abnormalities, Multiple, Adolescent, Adult, Aged, Aged, 80 and over, Chromosome Aberrations, Chromosomes, Human, Cohort Studies, Comorbidity, Comparative Genomic Hybridization, Developmental Disabilities, Drug Resistance, Epilepsy, Female, Genes, Humans, Intellectual Disability, Male, Middle Aged, Mutation, Young Adult
UCL classification: UCL
UCL > Provost and Vice Provost Offices
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 Population Health Sciences
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/1334547
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