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Alternating Hemiplegia of Childhood (AHC) is a very rare neurological disease caused by specific groups of mutations in the ATP1A3 gene. Rapid Onset Dystonia-Parkinsonism (RDP) and, recently, a new syndrome (CAPOS) have been recognized involving other mutations of the same gene.
All these conditions are very rare and partly overlapping in their neurological manifestations; common pathogenetic mechanisms could be involved.

The IAHCRC International Consortium for the Research on Alternating Hemiplegia of Childhood was formed in 2012 to carry out a collaborative research that led to the identification of the ATP1A3 gene as the main cause of AHC.
The Consortium involves clinicians, geneticists and researchers working at University centers in Europe, USA and Australia; it operates in close collaboration with health professionals and patient organizations, most of whom were already involved in the EU-funded projects “ENRAH for SMEs” (FP6, 2005-2007) and nEUroped (PH, 2008-2011).


	Read the synopsys of the article recently published on the Journal of Child Neurology about the methodology of a natural history study of Alternating Hemiplegia of Childhood as a Prototype Disease (OBSERV-AHC Study), written by the first author Dr. Shital Patel (Duke University, USA), at this link Read the News about the publication.

	GREAT NEWS! The new international study of the efficacy of Ketogenic Diet in AHC (IAHCRC Study KETO-AHC) has been launched inside the collaborative framework of the IAHCRC Consortium, coordinated by Dr. Carmen Fons and Dr. Jennifer Anticona (Hospital San Juan de Deu, Barcelona, Spain). All research centers are invited to participate, also non -IAHCRC. Read the Invitation Letter and, if interested, fill the Recruitment Survey as described in the News

	Congratulations to Dr. Eleni Panagiotakaki (University Hospitals of Lyon, France), that has been elected as IAHCRC Deputy Coordinator for the years 2022 -2024. Prof. Mohamad Mikati (Duke University, USA) has been confirmed as Scientific Coordinator for the same time period, and Prof. Alexis Arzimanoglou (University Hospitals of Lyon, France) has taken on the role of Past Scientific Coordinator. Read the complete News

	Since 2012, the researchers involved in the study of the ATP1A3 diseases gather with all the stakeholders worldwide at the annual edition of the International Symposium on ATP1A3 in disease (Official Website). The Fifth Edition of the Symposium took place in London, UK, last 24 – 26 August 2016, hosted at the National Institute of Neurology (University College of London) by Professor Sanjay Sisodiya and Professor Helen Cross, members of the IAHCRC Consortium. A Workshop reserved to the IAHCRC members was organized joint to the Symposium, with the aim to validate the new set of Common Data Elements (CDE’s) about the Paroxysmal Events and Developmental Skills in AHC. The new CDEs have been proposed by Prof. Mohamad Mikati, Deputy Coordinator of the IAHCRC Consortium, and his team of the AHC Clinic at the Duke University, Durham NC, USA (Read the complete News). As a follow-up of the Workshop, the new CDEs about Paroxysmal Events and Development Skills were definitively validated, and added to the IAHCRC Core CDEs. The Data Collection Forms for the OBSERV-AHC Study were designed (2017) based on those CDEs and the analysis of the longitudinal data collected for this study for three years has been just completed. Results of this analysis will be published soon and are going to be presented at the 12th Symposium on ATP1A3 in Disease by the IAHCRC Scientific Coordinator and OBSERV-AHC Study Coordinator, Prof. Mohamad Mikati. The 12th Symposium on ATP1A3 in disease will take place next November 14 - 15, 2024 in Barcelona, Spain. The main topics will be presented and discussed regarding understanding the ATP1A3 structure and function, model systems, gene-based treatments, pharmacological and functional treatments, clinical trials models for rare diseases, biomarkers, clinical advances and what matters for families. Registration is requested. To register and for any further information visit the Official Website.		Dr. David Goldstein, chairing the Second Symposium on ATP1A3 in Disease (Rome, 23 – 24 September 2013) together with Prof. Giovanni Neri, points out the need of collaboration for the international research on AHC, with the support and the involvement of the patients and of all the stakeholders, in his concluding remarks

	On January 18, 2012 the ATP1A3 gene was discovered to be the primary cause of Alternating Hemiplegia of Childhood (AHC), thanks to an international research project supported by the patient associations in the USA and in Europe. Since then, this date has been celebrated as the AHC International Day, to raise awareness about this ultra-rare neurodevelopmental disease that affects only one in a million people. In January 2022, for the whole week, we joined the families all over the world in sharing information about AHC as well as photos from their #oneinamillion campaign. We also celebrated the 10° Anniversary from the discovery of the genetic cause for AHC. To learn more about AHC, you can: visit this website and our page on Facebook watch the film Human Timebombs read the article on Rare Revolution Magazine watch Torie Robinson's interview to Dr. Rosaria Vavassori, IAHCRC Data Manager, and to Prof. Alexis Arzimanoglou, Past Scientific Coordinator of the IAHCRC Consortium and Coordinator of EpiCARE-ERN, the European Reference Network for Rare and Complex Epilepsies www.epi-care.eu visit the e-poster on AHC, the IAHCRC Consortium and the IAHCRC-CLOUD Platform presented at the European Conference on Rare Diseases 2022 (ECRD 2022)

last update 30 September 2023