title: Primer Part 1-The building blocks of epilepsy genetics.
abstract: This is the first of a two-part primer on the genetics of the epilepsies within the Genetic Literacy Series of the Genetics Commission of the International League Against Epilepsy. In Part 1, we cover the foundations of epilepsy genetics including genetic epidemiology and the range of genetic variants that can affect the risk for developing epilepsy. We discuss various epidemiologic study designs that have been applied to the genetics of the epilepsies including population studies, which provide compelling evidence for a strong genetic contribution in many epilepsies. We discuss genetic risk factors varying in size, frequency, inheritance pattern, effect size, and phenotypic specificity, and provide examples of how genetic risk factors within the various categories increase the risk for epilepsy. We end by highlighting trends in epilepsy genetics including the increasing use of massive parallel sequencing technologies.
authors.affiliation: Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.|Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany.
authors.forename: Ingo
authors.initials: I
authors.lastname: Helbig
authors.affiliation: Institute for Genomic Medicine and Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York, U.S.A.
authors.forename: Erin L
authors.initials: EL
authors.lastname: Heinzen
authors.affiliation: Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, U.S.A.
authors.forename: Heather C
authors.initials: HC
authors.lastname: Mefford
mesh_terms: D004827:Epilepsy / Q000453:epidemiology / Q000235:genetics* / Q000266:history; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation / Q000235:genetics; D049673:History, 20th Century; D006801:Humans; D017720:Molecular Epidemiology / Q000266:history
keywords: Epilepsy; Epilepsy gene; Genetics; Genomics; Heritability; Recurrence risk; Seizures; Twins