Kasperavičiute, D; Catarino, CB; Chinthapalli, K; Clayton, LMS; Thom, M; Martinian, L; Cohen, H; ... Sisodiya, SM; + view all Kasperavičiute, D; Catarino, CB; Chinthapalli, K; Clayton, LMS; Thom, M; Martinian, L; Cohen, H; Adalat, S; Bockenhauer, D; Pope, SA; Lench, N; Koltzenburg, M; Duncan, JS; Hammond, P; Hennekam, RCM; Land, JM; Sisodiya, SM; - view fewer (2011) Uncovering genomic causes of co-morbidity in epilepsy: Gene-driven phenotypic characterization of rare microdeletions. PLoS ONE , 6 (8) , Article e23182. 10.1371/journal.pone.0023182.

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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.

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