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Article

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.

BioMed research international - 1 Jan 2016

Joshi Charuta, Kolbe Diana L, Mansilla M Adela, Mason Sara O, Smith Richard J H, Campbell Colleen A

Abstract excerpt

Whole exome sequencing (WES) has revolutionized the way we think about and diagnose epileptic encephalopathies. Multiple recent review articles discuss the benefits of WES and suggest various algorithms to follow for determining the etiology of epileptic encephalopathies. Incorporation of WES in these algorithms is leading to the discovery of new genetic diagnoses of early onset epileptic encephalopathies (EOEEs)...

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Identifiers

PMID: 27243033
DOI: 10.1155/2016/6421039
PMCID: PMC4875968

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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