title: The unexpected role of copy number variations in juvenile myoclonic epilepsy.
abstract: Structural genomic variants or copy number variants (CNVs) comprise submicroscopic deletions and duplications of chromosomal material, including both rearrangements at genomic hotspots as well as duplications and deletions with unique breakpoints. Copy number variants have increasingly been recognized in the Idiopathic/Genetic Generalized Epilepsies (IGE/GGE) including juvenile myoclonic epilepsy (JME). Microdeletions at 15q13.3, 15q11.2, and 16p13.11 are genetic risk factors that can be identified in 3% of patients with IGE including JME. These microdeletions, however, also represent genetic risk factors to a broad range of other neurodevelopmental disorders. Additionally, 6% of patients with GGE carry other, potentially pathogenic structural genomic variants. While family studies largely support the channelopathy concept of the idiopathic epilepsies, the results of studies investigating copy number variations suggest that JME genetically overlaps with a broad range of other neurodevelopmental disorders. In addition, the particular genetic properties of structural genomic variations as rare genetic variants highlight the complexity of the genetic architecture of human disease.
authors.affiliation: Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany. i.helbig@pedneuro.uni-kiel.de
authors.forename: Ingo
authors.initials: I
authors.lastname: Helbig
authors.forename: Corinna
authors.initials: C
authors.lastname: Hartmann
authors.forename: Heather C
authors.initials: HC
authors.lastname: Mefford
mesh_terms: D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D002885:Chromosomes, Human, Pair 16; D056915:DNA Copy Number Variations / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D020190:Myoclonic Epilepsy, Juvenile / Q000235:genetics*