title: Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions.
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.
  
  
  RESULTS
  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
  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.
authors.affiliation: Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, London, United Kingdom.
authors.forename: Dalia
authors.initials: D
authors.lastname: Kasperavičiūtė
authors.forename: Claudia B
authors.initials: CB
authors.lastname: Catarino
authors.forename: Krishna
authors.initials: K
authors.lastname: Chinthapalli
authors.forename: Lisa M S
authors.initials: LM
authors.lastname: Clayton
authors.forename: Maria
authors.initials: M
authors.lastname: Thom
authors.forename: Lillian
authors.initials: L
authors.lastname: Martinian
authors.forename: Hannah
authors.initials: H
authors.lastname: Cohen
authors.forename: Shazia
authors.initials: S
authors.lastname: Adalat
authors.forename: Detlef
authors.initials: D
authors.lastname: Bockenhauer
authors.forename: Simon A
authors.initials: SA
authors.lastname: Pope
authors.forename: Nicholas
authors.initials: N
authors.lastname: Lench
authors.forename: Martin
authors.initials: M
authors.lastname: Koltzenburg
authors.forename: John S
authors.initials: JS
authors.lastname: Duncan
authors.forename: Peter
authors.initials: P
authors.lastname: Hammond
authors.forename: Raoul C M
authors.initials: RC
authors.lastname: Hennekam
authors.forename: John M
authors.initials: JM
authors.lastname: Land
authors.forename: Sanjay M
authors.initials: SM
authors.lastname: Sisodiya
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000328:Adult; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D015897:Comorbidity; D004827:Epilepsy / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D005260:Female; D017353:Gene Deletion; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male