Why the study?
Alternating hemiplegia of childhood is primarily neurologic, but some patients experience sudden unexplained death, motivating investigation into the impact of ATP1A3 variants on cardiac electrophysiology and lethal ventricular arrhythmias.
Does the presence of ATP1A3 variants affect QTc intervals and risk of ventricular arrhythmias in patients with alternating hemiplegia of childhood?
Population
222 individuals (148 with AHC and 74 controls) across 12 centers in 10 countries
Comparison
Patients with AHC grouped by ATP1A3 variant status vs healthy controls
Design
International multicenter case-control study with blinded manual QTc measurement
Authors
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May prompt arrhythmia surveillance in D801N AHC; leaves open causal mechanisms and preventive strategies.
Does the presence of ATP1A3 variants affect QTc intervals and risk of ventricular arrhythmias in patients with alternating hemiplegia of childhood?
The D801N variant of ATP1A3 in alternating hemiplegia of childhood is associated with short QTc intervals and an increased risk of lethal ventricular arrhythmias, potentially explaining sudden unexplained death in this population.
Moya‐Mendez et al. (2025) studied this question.
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