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Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved

Cara P Ford1,2, Rebecca O Littlejohn3,4, Ryan German4,5

  • 1School of Medicine, Meharry Medical College, Nashville, Tennessee, USA.

Molecular Genetics & Genomic Medicine
|August 24, 2023
PubMed
Summary

Genomic medicine diagnosed a rare genetic disorder in an underrepresented child denied exome sequencing. Whole exome sequencing identified a pathogenic ATP1A3 variant, enabling targeted treatment and improving outcomes.

Keywords:
ATP1A3alternating hemiplegia of childhoodgenomicshealth care equityunderserved population

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