Monday, August 22, 2011

Uncovering Genomic Causes of Co-Morbidity in Epilepsy: Gene-Driven Phenotypic Characterization of Rare Microdeletions

Uncovering Genomic Causes of Co-Morbidity in Epilepsy: Gene-Driven Phenotypic Characterization of Rare Microdeletions:

by Dalia Kasperavičiūtė, Claudia B. Catarino, Krishna Chinthapalli, Lisa M. S. Clayton, Maria Thom, Lillian Martinian, Hannah Cohen, Shazia Adalat, Detlef Bockenhauer, Simon A. Pope, Nicholas Lench, Martin Koltzenburg, John S. Duncan, Peter Hammond, Raoul C. M. Hennekam, John M. Land, Sanjay M. Sisodiya


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.


(Via PLoS ONE Genetics and Genomics.)