title: Recent advances in the molecular genetics of epilepsy.
abstract: Recent advances in molecular genetics have translated into the increasing utilisation of genetic testing in the routine clinical practice of neurologists. There has been a steady, incremental increase in understanding the genetic variation associated with epilepsies. Genetic testing in the epilepsies is not yet widely practiced, but the advent of new screening technologies promises to exponentially expand both knowledge and clinical utility. To maximise the value of this new genetic insight we need to rapidly extrapolate genetic findings to inform patients of their diagnosis, prognosis, recurrence risk and the clinical management options available for their specific genetic condition. Comprehensive, highly specific and sensitive genetic test results improve the management of patients by neurologists and clinical geneticists. Here we discuss the latest developments in clinical genetic testing for epilepsy and describe new molecular genetics platforms that will transform both genetic screening and novel gene discovery.
authors.affiliation: Department of Medicine, Epilepsy Research Centre, University of Melbourne, Melbourne Brain Centre, Austin Health, 275 Burgundy Street, Heidelberg, Victoria 3084, Australia.
authors.forename: Michael S
authors.initials: MS
authors.lastname: Hildebrand
authors.forename: Hans-Henrik M
authors.initials: HH
authors.lastname: Dahl
authors.forename: John Anthony
authors.initials: JA
authors.lastname: Damiano
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
authors.forename: Ingrid E
authors.initials: IE
authors.lastname: Scheffer
authors.forename: Samuel F
authors.initials: SF
authors.lastname: Berkovic
mesh_terms: D056915:DNA Copy Number Variations; D004827:Epilepsy / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods / Q000639:trends*; D014644:Genetic Variation; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D008967:Molecular Biology / Q000379:methods / Q000639:trends*; D020412:Multifactorial Inheritance / Q000235:genetics; D009154:Mutation / Q000235:genetics