Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two...

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• Mutations in the ATP1A3 gene are linked to severe childhood neurological disorders like alternating hemiplegia of childhood (AHC), rapid-onset dystonia parkinsonism (RDP), and CAPOS syndrome.
• These ATP1A3-related disorders present with diverse neurological symptoms and onset times, but a genotype-phenotype correlation is emerging.
• Epileptic seizures are reported in a subset of patients with AHC and RDP, with apneic events being a notable feature.

Observation:

• This study describes two children experiencing severe, unexplained apnea starting around one year of age.
• Both children were found to have pathogenic variants in the ATP1A3 gene.
• The clinical presentation of severe apnea in infancy was investigated in relation to ATP1A3 gene mutations.

Findings:

• The observed severe apnea in infancy in these two cases is hypothesized to be early-onset autonomic seizures.
• This suggests a potential new phenotype associated with ATP1A3 gene variants, specifically early-onset autonomic dysfunction.
• The findings highlight the diverse and sometimes subtle neurological manifestations of ATP1A3 mutations.

Implications:

• This research expands the understanding of ATP1A3-related disorders, suggesting autonomic seizures as a possible early symptom.
• It underscores the importance of considering ATP1A3 gene analysis in infants presenting with unexplained severe apnea.
• Further research into ATP1A3 variants and their role in autonomic nervous system regulation is warranted.