title: Progress from genome-wide association studies and copy number variant studies in epilepsy.
abstract: OBJECTIVE
  The pace of gene discovery in epilepsy remains frenetic. Although most recent discoveries have come from next-generation sequencing studies, there has also been important progress using more established methodologies, such as genome-wide association studies (GWASs) and copy number variants (CNVs) identified through array-based techniques. Progress in these areas over the last year is reviewed.
  
  
  RESULTS
  The first meta-analysis of GWASs was a landmark development for the epilepsy community, though more sizeable studies are sorely needed. Other GWASs point to potentially interesting discoveries, and are in need of replication and follow-up. Copy number variation is emerging as an important genetic contribution to causation across a wide range of epilepsies, with a number of discoveries in epilepsies from the common, such as genetic generalized epilepsies, to the individually comparatively rare, such as particular epileptic encephalopathies. The first studies of CNV analysis from next-generation sequencing data, and of the combination of sequencing and array-based data, have also emerged, allowing more comprehensive genetic evaluation of specific phenotypes.
  
  
  CONCLUSIONS
  GWASs based on single nucleotide polymorphisms, and CNV analyses based on a variety of data sources, retain a place in the discovery of causation and susceptibility in the epilepsies, and will probably become more powerful in the near future through the use of large-scale next-generation sequencing studies. There are still discoveries to come through these routes.
authors.affiliation: aDepartment of Clinical and Experimental Epilepsy, NIHR University College London Hospitals Biomedical Research Centre, UCL Institute of Neurology, London, UK bEpilepsy Centre, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University of Naples, Italy cThe Epilepsy Society, Chalfont-St-Peter, Bucks, UK.
authors.forename: Costin
authors.initials: C
authors.lastname: Leu
authors.forename: Antonietta
authors.initials: A
authors.lastname: Coppola
authors.forename: Sanjay M
authors.initials: SM
authors.lastname: Sisodiya
mesh_terms: D000818:Animals; D056915:DNA Copy Number Variations / Q000235:genetics*; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*