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

Review Pediatrics

The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?

Yarden S. Fraiman et al.

Summary: Despite Mendelian genetic disorders being individually rare, they are collectively more common and contribute significantly to pediatric morbidity and mortality. Advancements in genetic testing have allowed for individualized treatment plans and could potentially improve quality of life, but ensuring equitable access remains a challenge. Further research is needed to address disparities in pediatric genetic testing and to provide precision medicine to all who can benefit.

PEDIATRIC RESEARCH (2021)

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Review Clinical Neurology

ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum

Philippe A. Salles et al.

Summary: The Na+/K+ ATPases are a critical part of cell membrane function, with the ATP1A3 gene encoding the α 3 isoform which is associated with neurological disorders. Pathogenic variants in this gene can lead to a range of symptoms, often presenting with acute onset and triggered episodes by fever or other factors.

FRONTIERS IN NEUROLOGY (2021)

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Article Clinical Neurology

Alternating Hemiplegia of Childhood: Genotype-Phenotype Correlations in a Cohort of 39 Italian Patients

Ramona Cordani et al.

Summary: In a cohort of Italian children with Alternating Hemiplegia of Childhood, 92.3% were found to have mutations in the ATP1A3 gene, with the p.Glu815Lys mutation associated with more severe symptoms. Patients with the p.Glu815Lys mutation exhibited earlier onset of paralysis and tonic attacks, as well as greater intellectual disability and language impairment. Interestingly, the medication flunarizine appeared to be more effective in patients with the p.Glu815Lys mutation compared to those with the p.Asp801Asn mutation.

FRONTIERS IN NEUROLOGY (2021)

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Article Clinical Neurology