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Article

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

20 Jul 2023

Abstract excerpt

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 patients with epilepsy. Design, Setting, and Participants: This cohort study used phenotypic data from medical...

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PMID: 37471090
DOI: 10.1001/jamanetworkopen.2023.24380

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