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

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 the...

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Detalles Bibliográficos
Autores principales: Joshi, Charuta, Kolbe, Diana L., Mansilla, M. Adela, Mason, Sara O., Smith, Richard J. H., Campbell, Colleen A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4875968/
https://www.ncbi.nlm.nih.gov/pubmed/27243033
http://dx.doi.org/10.1155/2016/6421039