Journal article
Recent advances in the molecular genetics of epilepsy
Journal of medical genetics, Vol.50(5), pp.271-279
05/2013
DOI: 10.1136/jmedgenet-2012-101448
PMID: 23468209
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.
Details
- Title: Subtitle
- Recent advances in the molecular genetics of epilepsy
- Creators
- Michael S Hildebrand - Department of Otolaryngology, University of Iowa, Iowa City, Iowa, USAHans-Henrik M Dahl - Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Victoria, AustraliaJohn Anthony Damiano - Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Victoria, AustraliaRichard J H Smith - Department of Otolaryngology, University of Iowa, Iowa City, Iowa, USAIngrid E Scheffer - Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, AustraliaSamuel F Berkovic - Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Victoria, Australia
- Resource Type
- Journal article
- Publication Details
- Journal of medical genetics, Vol.50(5), pp.271-279
- DOI
- 10.1136/jmedgenet-2012-101448
- PMID
- 23468209
- NLM abbreviation
- J Med Genet
- ISSN
- 0022-2593
- eISSN
- 1468-6244
- Language
- English
- Date published
- 05/2013
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006418202771
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