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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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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28199897
DOI: 10.1016/j.eplepsyres.2017.02.001

Genes

DEPDC5
GABRG2
NPRL2
PCDH19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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