title: The contribution of next generation sequencing to epilepsy genetics.
abstract: During the last decade, next generation sequencing technologies such as targeted gene panels, whole exome sequencing and whole genome sequencing have led to an explosion of gene identifications in monogenic epilepsies including both familial epilepsies and severe epilepsies, often referred to as epileptic encephalopathies. The increased knowledge about causative genetic variants has had a major impact on diagnosis of genetic epilepsies and has already been translated into treatment recommendations for a few genes. This article provides an overview of how next generation sequencing has advanced our understanding of epilepsy genetics and discusses some of the recently discovered genes in monogenic epilepsies.
authors.affiliation: a Danish Epilepsy Centre , Dianalund , Denmark.|b Institute for Regional Health research , University of Southern Denmark , Odense , Denmark.
authors.forename: Rikke S
authors.initials: RS
authors.lastname: Møller
authors.affiliation: c Amplexa Genetics , Odense , Denmark.
authors.forename: Hans A
authors.initials: HA
authors.lastname: Dahl
authors.affiliation: d Department of Neuropediatrics , University Medical Center Schleswig-Holstein , Kiel , Germany.|e Division of Neurology , The Children's Hospital of Philadelphia , Philadelphia , PA , USA.
authors.forename: Ingo
authors.initials: I
authors.lastname: Helbig
mesh_terms: D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics*; D056726:Genetic Association Studies; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000191:economics / Q000379:methods; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing / Q000191:economics / Q000379:methods; D006801:Humans; D020412:Multifactorial Inheritance; D009154:Mutation; D010641:Phenotype
keywords: Epilepsy; de novo mutations; epileptic encephalopathies; familial epilepsies; gene panels; genetics; next generation sequencing; whole exome sequencing