Simpson, Alexander J;
McLellan, Ailsa;
Behl, Katherine Elizabeth;
Brown, Jo;
Clapcote, Steven J;
Cross, J Helen;
van den Maagdenberg, Arn MJM;
... Sisodiya, Sanjay M; + view all
(2025)
Alternating Hemiplegia of Childhood and ATP1A3-Related Diseases.
Neurology-Genetics
, 11
(5)
, Article e200308. 10.1212/NXG.0000000000200308.
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Abstract
This report presents key insights from the 2022 annual conference held in Edinburgh, commemorating the 10th anniversary of the discovery of ATP1A3 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 ATP1A3-related disease research. Over the past 10 years, our knowledge of ATP1A3-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 ATP1A3 community is paving the way for improved diagnosis, enhanced care, and the development of targeted treatments for these ultra-rare conditions.
| Type: | Article |
|---|---|
| Title: | Alternating Hemiplegia of Childhood and ATP1A3-Related Diseases |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1212/NXG.0000000000200308 |
| Publisher version: | https://doi.org/10.1212/nxg.0000000000200308 |
| Language: | English |
| Additional information: | Copyright © 2025 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, Clinical Neurology, Neurosciences & Neurology, CEREBELLAR-ATAXIA, ATP1A3, PHENOTYPE, ENCEPHALOPATHY, DISORDERS, MUTATIONS, BRAIN |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > ICH - Directors Office |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10218983 |
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