Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

BACKGROUND: Epileptic encephalopathies are a devastating group of neurological conditions in which etiological diagnosis can alter management and clinical outcome. Exome sequencing and gene panel testing can improve diagnostic yield but there is no cost‐effectiveness analysis of their use or consens...

Descripción completa

Detalles Bibliográficos
Autores principales: Palmer, Elizabeth E., Schofield, Deborah, Shrestha, Rupendra, Kandula, Tejaswi, Macintosh, Rebecca, Lawson, John A., Andrews, Ian, Sampaio, Hugo, Johnson, Alexandra M., Farrar, Michelle A., Cardamone, Michael, Mowat, David, Elakis, George, Lo, William, Zhu, Ying, Ying, Kevin, Morris, Paula, Tao, Jiang, Dias, Kerith‐Rae, Buckley, Michael, Dinger, Marcel E., Cowley, Mark J., Roscioli, Tony, Kirk, Edwin P., Bye, Ann, Sachdev, Rani K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902395/
https://www.ncbi.nlm.nih.gov/pubmed/29314763
http://dx.doi.org/10.1002/mgg3.355

Ejemplares similares

Ejemplares similares