Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy

IMPORTANCE: Genomic advances inform our understanding of epilepsy and can be translated to patients as precision diagnoses that influence clinical treatment, prognosis, and counseling. OBJECTIVE: To delineate the genetic landscape of pediatric epilepsy and clinical utility of genetic diagnoses for p...

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Detalles Bibliográficos
Autores principales: Koh, Hyun Yong, Smith, Lacey, Wiltrout, Kimberly N., Podury, Archana, Chourasia, Nitish, D’Gama, Alissa M., Park, Meredith, Knight, Devon, Sexton, Emma L., Koh, Julia J., Oby, Brandon, Pinsky, Rebecca, Shao, Diane D., French, Courtney E., Shao, Wanqing, Rockowitz, Shira, Sliz, Piotr, Zhang, Bo, Mahida, Sonal, Moufawad El Achkar, Christelle, Yuskaitis, Christopher J., Olson, Heather E., Sheidley, Beth Rosen, Poduri, Annapurna H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Medical Association 2023
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359957/
https://www.ncbi.nlm.nih.gov/pubmed/37471090
http://dx.doi.org/10.1001/jamanetworkopen.2023.24380

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