Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.

Abstract

BACKGROUND Epileptic encephalopathies are a devastating group of neurological conditions in which etiological diagnosis can alter management and clinical outcome. Exome sequencing and gene panel testing can improve diagnostic yield but there is no cost-effectiveness analysis of their use or consensus on how to best integrate these tests into clinical… (More)
DOI: 10.1002/mgg3.355

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Cite this paper

@article{Palmer2018IntegratingES, title={Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.}, author={Elizabeth E Palmer and Deborah Schofield and Rupendra Shrestha and Tejaswi Kandula and Rebecca F Macintosh and John Lawson and Ian A. Andrews and Hugo Sampaio and Alexandra M Johnson and Michelle A Farrar and Michael A Cardamone and David Mowat and George Elakis and William Lo and Ying Zhu and Kevin Ying and Paula F Morris and Jiang Tao and K M Dias and Michael Buckley and Marcel E Dinger and Mark J. Cowley and Tony Roscioli and Edwin Philip Kirk and Annie M E Bye and Rani K Sachdev}, journal={Molecular genetics & genomic medicine}, year={2018} }