Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy

IMPORTANCE: Although genetic testing is important for bringing precision medicine to children with epilepsy, it is unclear what genetic testing strategy is best in maximizing diagnostic yield. OBJECTIVES: To evaluate the diagnostic yield of an exome-based gene panel for childhood epilepsy and discus...

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Bibliografski detalji
Izdano u:JAMA Netw Open
Glavni autori: Balciuniene, Jorune, DeChene, Elizabeth T., Akgumus, Gozde, Romasko, Edward J., Cao, Kajia, Dubbs, Holly A., Mulchandani, Surabhi, Spinner, Nancy B., Conlin, Laura K., Marsh, Eric D., Goldberg, Ethan, Helbig, Ingo, Sarmady, Mahdi, Abou Tayoun, Ahmad
Format: Artigo
Jezik:Inglês
Izdano: American Medical Association 2019
Teme:
Original Investigation
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6481455/
https://ncbi.nlm.nih.gov/pubmed/30977854
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamanetworkopen.2019.2129
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