On the Edge-a Diagnostic Odyssey

Hailey McLean,Rachel Palmquist,Lincoln D. Nadauld,Sabrina Malone Jenkins,Joshua Bonkowsky,Francis Filloux

Clinical case reports（2022）

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摘要

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.

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关键词

diagnostic odyssey,narrative medicine,PLPBP,pyridoxine responsive seizures

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