Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Targeted whole-exome sequencing (WES) is a powerful diagnostic tool for a broad spectrum of heterogeneous neurological disorders. Here, we aim to examine the impact on diagnosis, treatment and cost with early use of targeted WES in early-onset epilepsy. WES was performed on 180 patients with early-o...

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Detaylı Bibliyografya
Yayımlandı:Front Neurol
Asıl Yazarlar: Demos, Michelle, Guella, Ilaria, DeGuzman, Conrado, McKenzie, Marna B., Buerki, Sarah E., Evans, Daniel M., Toyota, Eric B., Boelman, Cyrus, Huh, Linda L., Datta, Anita, Michoulas, Aspasia, Selby, Kathryn, Bjornson, Bruce H., Horvath, Gabriella, Lopez-Rangel, Elena, van Karnebeek, Clara D. M., Salvarinova, Ramona, Slade, Erin, Eydoux, Patrice, Adam, Shelin, Van Allen, Margot I., Nelson, Tanya N., Bolbocean, Corneliu, Connolly, Mary B., Farrer, Matthew J.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2019
Konular:
Neurology
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6536592/
https://ncbi.nlm.nih.gov/pubmed/31164858
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2019.00434
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