title: New technologies in molecular genetics: the impact on epilepsy research.
abstract: Technical advances in the last decade have finally enabled researchers to identify epilepsy-associated genetic variants by querying virtually the entire genome. In the first decade of the twenty-first century, this technical revolution began with the advent of array comparative genomic hybridization and single nucleotide polymorphism arrays. These technologies made it possible for the first time to screen for common genetic variants and rare small deletions and duplications, referred to as microdeletions and microduplications. More recently, the repertoire of technologies has expanded to exome-wide and genome-wide sequencing approaches. These technologies led to a virtual explosion of gene identifications both in familial cases and in rare severe epilepsies, referred to as epileptic encephalopathies. This chapter aims to provide an overview of the achievements of these new technologies and the challenges that the field is currently facing.
authors.affiliation: Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, USA. Electronic address: helbigi@email.chop.edu.
authors.forename: Ingo
authors.initials: I
authors.lastname: Helbig
mesh_terms: D000818:Animals; D055028:Comparative Genomic Hybridization; D004827:Epilepsy / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008967:Molecular Biology / Q000379:methods* / Q000639:trends*
keywords: 15q13.3 microdeletion; SCN1A; copy number variation; epilepsy; exome; genome sequencing; genomics; seizures