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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.

Original publication

DOI

10.1371/journal.pone.0023182

Type

Journal article

Journal

PLoS One

Publication Date

2011

Volume

6

Keywords

Abnormalities, Multiple, Adult, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 17, Chromosomes, Human, Pair 3, Comorbidity, Epilepsy, Female, Gene Deletion, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Male