Article
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-onset Epilepsy
2017-05-17
Abstract excerpt
<h4>Background</h4> To examine the impact on diagnosis, treatment and cost with early use of targeted whole-exome sequencing (WES) in early-onset epilepsy. <h4>Methods</h4> WES was performed on 50 patients with early-onset epilepsy (≤ 5 years) of unknown cause. Patients were classified as retrospective (epilepsy diagnosis > 6 months) or prospective (epilepsy diagnosis < 6 months). WES was performed on an Ion Pro...
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Identifiers and source
- Literature Corpus work
- 22345c41-7444-5a69-ba29-df2c3b158166
- DOI
- 10.1101/139329
