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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).

	The results of the OBSERV-AHC Study, the main IAHCRC Study on natural history and therapy for AHC, have been published in open access on the Annals of the Child Neurology Society The full-text and the pdf to download are available at this link. As stated in the Consclusions, "AHC is a progressive disease, and early childhood is the vulnerable period. We identified several novel prognostic indicators and a mortality rate, which provide critical information not only regarding prognostication, counseling, and underlying pathophysiology but also for planning therapeutic studies."

	Congratulations to Dr. Elisa De Grandis (G. Gaslini Hospital and University og Genoa, Italy), that has been elected as IAHCRC Deputy Coordinator for the three-year term 2025 -2027. Dr. Eleni Panagiotakaki (University Hospitals of Lyon, France) has been confirmed as Scientific Coordinator for the same term, and Prof. Mohamad Mikati (Duke University, Durham, NC, USA) has taken on the role of Past Scientific Coordinator, together with Prof. Alexis Arzimanoglou (San Juan de Deu Hospital, Barcelona, Spain). Read the complete News

	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

	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 that 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 13^th Symposium on ATP1A3 in disease was held virtually on 15 and 16 September 2025, joint to the 17^th International Conference on "P-Type ATPases in Health & Disease", which took place in Cairns (Australia) from 15 to 19 September 2025. The programme of the Symposium was set up to allow speakers and participants from all over the world to join live or see the recorded sessions soon after the end of the streaming. There were two joint sessions with the P-Type ATPases Conference that were live-streamed from Cairns (15 Sep, 18:00-19:30 AEST and 16 Sep, 18:00-20:00 AEST). Program can be downloaded from the Symposium 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. 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 (January 2022) 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) Watch the interview by Torie Robinson to the IAHCRC Scientific Coordinator Dr. Eleni Panagiotakaki, focusing on rare and complex epilepsies such as Alternating Hemiplegia of Childhood (AHC) and GRIN disorders (December 2024)

last update 15 November 2025