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Title: Recent advances in the molecular genetics of epilepsy.
Authors: Hildebrand, Michael S;Dahl, Hans-Henrik M;Damiano, John Anthony;Smith, Richard J H;Scheffer, Ingrid E;Berkovic, Samuel F
Affiliation: Department of Medicine, Epilepsy Research Centre, University of Melbourne, Melbourne Brain Centre, Austin Health, 275 Burgundy Street, Heidelberg, Victoria 3084, Australia
Issue Date: 6-Mar-2013
Citation: Journal of Medical Genetics 2013; 50(5): 271-9
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.
Internal ID Number: 23468209
DOI: 10.1136/jmedgenet-2012-101448
Type: Journal Article
Subjects: DNA Copy Number Variations
Genetic Predisposition to Disease.genetics
Genetic Testing.methods.trends
Genetic Variation
High-Throughput Nucleotide Sequencing.methods
Molecular Biology.methods.trends
Multifactorial Inheritance.genetics
Appears in Collections:Journal articles

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