On the edge-A diagnostic odyssey.

Autor: McLean H; School of Medicine University of Utah Salt Lake City Utah USA., Palmquist R; Division of Pediatric Neurology University of Utah Salt Lake City Utah USA., Nadauld LD; Intermountain Precision Genomics Intermountain Health Care Salt Lake City Utah USA., Malone Jenkins S; Division of Neonatology University of Utah Salt Lake City Utah USA., Bonkowsky J; Division of Pediatric Neurology University of Utah Salt Lake City Utah USA., Filloux F; Division of Pediatric Neurology University of Utah Salt Lake City Utah USA.
Jazyk: angličtina
Zdroj: Clinical case reports [Clin Case Rep] 2022 Apr 07; Vol. 10 (4), pp. e05688. Date of Electronic Publication: 2022 Apr 07 (Print Publication: 2022).
DOI: 10.1002/ccr3.5688
Abstrakt: 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.
Competing Interests: None.
(© 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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