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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:JAMA Netw Open
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Medical Association 2019
Gaiak:
Original Investigation
Sarrera elektronikoa: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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