On the edge-A diagnostic odyssey.

Hailey McleanRachel PalmquistLincoln D NadauldSabrina Malone JenkinsJoshua Leith Bonkowsky Francis Filloux

Published in: Clinical case reports (2022)

The diagnostic odyssey of a child with epileptic encephalopathy was resolved by rapid whole genome sequencing. This identified a rare form of pyridoxine responsive epilepsy due to a pathogenic variant in PLPBP . Access to such potentially life-changing diagnostic technology needs to expand in a thoughtful and equitable manner.

Keyphrases

early onset
cancer therapy
drug delivery