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Updated: Sep 27, 2025

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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.

Clinical Case Reports
|April 15, 2022
PubMed
Summary

Rapid whole genome sequencing diagnosed a child's rare pyridoxine-responsive epilepsy. This breakthrough identified a pathogenic variant in PLPBP, highlighting the need for equitable access to advanced genetic diagnostics.

Keywords:
PLPBPdiagnostic odysseynarrative medicinepyridoxine responsive seizures

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Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Epileptic encephalopathy presents diagnostic challenges, often leading to prolonged

Observation:

  • A child with a complex diagnostic odyssey experienced a resolution through rapid whole genome sequencing.

Findings:

  • The sequencing identified a rare form of pyridoxine-responsive epilepsy.
  • A pathogenic variant in the PLPBP gene was confirmed as the cause.

Implications:

  • Rapid whole genome sequencing offers a powerful tool for diagnosing rare genetic disorders.
  • Equitable and thoughtful expansion of access to advanced genetic technologies is crucial for improving patient outcomes.