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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 (AHC) 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).


	GREAT NEWS! The new international study of the phenotypes correlated to rare variants in ATP1A3 (IAHCRC Study VARIA-ATP1A3) has been launched inside the collaborative framework of the IAHCRC Consortium, coordinated by Dr. Katharina Vezyroglou (Great Ormond Street Children Hospital, University College of London, UK). 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

	The information leaflet and the patient journey for AHC have been published on the official website of EpiCARE-ERN, the European Reference Network for rare and complex epilepsies. These are great resources for patients, caregivers and healthcare professionals! 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 OBSERV-AHC Study was designed (2017) based on those CDEs and it is currently in its first phase of patients' recruitment. The 10th Symposium on ATP1A3 in disease took place on October 19 -21, 2022 in Edimburgh, UK. In the special occasion of the 10th anniversary from the discovery of the ATP1A3 gene as primary cause of AHC, the Symposium has been joint to the 10th Anniversary Community meeting, including families and open to all stakeholders, thanks to a project funded by the European Joint Program on Rare Disease EJP-RD. The project was presented to the EJP-RD call by a group of patient associations and was coodinated by the association AHC-UK (Visit the Official Page). On February 9, 2019 in Barcelona, Spain, the International Symposium on AHC took place, with the participation of many members of the IAHCRC Consortium as speakers (For more info and registration, read the News).		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 28 December 2022