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.

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Journal article


PLoS One

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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