Article
Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.
Epilepsy research - 1 Mar 2017
Perucca Piero, Scheffer Ingrid E, Harvey A Simon, James Paul A, Lunke Sebastian, Thorne Natalie, Gaff Clara, Regan Brigid M, Damiano John A, Hildebrand Michael S, Berkovic Samuel F, O'Brien Terence J, Kwan Patrick
Abstract excerpt
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...
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