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On the edge-A diagnostic odyssey
Hailey McLean1, Rachel Palmquist2, Lincoln D Nadauld3
1School of Medicine University of Utah Salt Lake City Utah USA.
Abstract:
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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