Alternating Hemiplegia of Childhood and <i>ATP1A3</i> -Related Diseases

This report presents key insights from the 2022 annual conference held in Edinburgh, commemorating the 10th anniversary of the discovery of <i>ATP1A3</i> variants in alternating hemiplegia of childhood (AHC). This milestone event marked a decade of rapid advancements in research and clinical understanding, bringing together international experts and those with lived experience to reflect on progress, identify ongoing challenges, and shape the future of <i>ATP1A3</i>-related disease research. Over the past 10 years, our knowledge of <i>ATP1A3</i>-related diseases has expanded significantly, revealing a broader clinical spectrum, complex genotype-phenotype correlations, and novel pathophysiologic mechanisms. This symposium provided new data on cardiac and respiratory involvement in AHC, the impact of Na⁺, K⁺-ATPase dysfunction on neurodevelopment, and the evolving understanding of progressive disease trajectories. The conference also showcased emerging therapeutic strategies, including gene therapy, antisense oligonucleotides, and small-molecule interventions. This article synthesizes these discussions, offering a comprehensive overview of a decade of progress while highlighting the urgent need for continued collaboration. By integrating research, clinical expertise, and lived experience advocacy, the <i>ATP1A3</i> community is paving the way for improved diagnosis, enhanced care, and the development of targeted treatments for these ultra-rare conditions.