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PLoS One. 2011;6(8):e23182. doi: 10.1371/journal.pone.0023182. Epub 2011 Aug 17.

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

Author information

1
Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, London, United Kingdom.

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.

PMID:
21858020
PMCID:
PMC3157359
DOI:
10.1371/journal.pone.0023182
[Indexed for MEDLINE]
Free PMC Article

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