Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy

P Perucca; IE Scheffer; AS Harvey; PA James; S Lunke; N Thorne; C Gaff; BM Regan; JA Damiano; MS Hildebrand; SF Berkovic; TJ O'Brien; P Kwan

Journal article

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy

P Perucca, IE Scheffer, AS Harvey, PA James, S Lunke, N Thorne, C Gaff, BM Regan, JA Damiano, MS Hildebrand, SF Berkovic, TJ O'Brien, P Kwan

Epilepsy Research | ELSEVIER SCIENCE BV | Published : 2017

DOI: 10.1016/j.eplepsyres.2017.02.001

Abstract

Objective Driven by advances in genomic technology and reduction in costs, next-generation sequencing (NGS) is venturing into routine clinical care. The ‘real-world’ clinical utility of NGS remains to be determined in focal epilepsies, which account for 60% of all epilepsies and for which the importance of genetic factors is just beginning to emerge. We investigated the diagnostic yield and management implications of whole exome sequencing (WES)-based screening of selected genes in the routine care of common focal epilepsies suspected to have a genetic basis. Methods We performed WES, followed by targeted analysis of 64 epilepsy genes, on 40 consecutive children and adults enrolled prospecti..

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University of Melbourne Researchers

Ingrid Scheffer Author

Simon Harvey Author

Paul James Author

Sebastian Lunke Author

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Grants

Awarded by National Health and Medical Research Council (NHMRC) of Australia Program Grant

Awarded by R.D. Wright Career Development Fellowship

Funding Acknowledgements

This work was supported by a National Health and Medical Research Council (NHMRC) of Australia Program Grant (628952) to SFB and IES, a Practitioner Fellowship (1006110) to IES, and a R.D. Wright Career Development Fellowship (1063799) to MSH. The Melbourne Genomics Health Alliance (a collaboration jointly funded by the Royal Melbourne Hospital, Royal Children's Hospital, University of Melbourne, Walter and Eliza Hall Institute of Medical Research, Murdoch Childrens Research Institute, CSIRO and Australian Genome Research Facility) established the overarching research study and funded the costs of sequencing, bioinformatics and laboratory analysis of this sub-study. The funding sources had no role in the design and conduct of this sub-study, nor the collection, management, analysis, and interpretation of the data or decision to submit the manuscript for publication. Authors CG and NT are funded by the Alliance to conduct the overarching research study and were involved in preparation, review, and approval of the manuscript with respect to those aspects funded by the Alliance.