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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).


	A very interesting webinar on AHC was organized by EpiCare-ERN, the European Reference Network for Rare and Complex Epilepsies. The content was very educational, mainly for clinicians and researchers, but also for families and caregivers, covering all aspects of the disease, from diagnostics and genetics to therapy and management. The recording is now available at this link. Registration is mandatory in order to watch the webinar. TITLE: Alternating Hemiplegia of Childhood: a multi-faceted neurological disorder, new discoveries and new perspectives. ORGANIZER: EpiCARE-ERN www.epi-care.eu SPEAKERS: Dr. Eleni Panagiotakaki and Prof. Gaetan Lesca, Epilepsy, Sleep and Pediatric Neurophysiology Unit, University Hospital of Lyon, France CHAIR: Prof. Alexis Arzimanoglou, Sleep and Pediatric Neurophysiology Unit, University Hospital of Lyon, France DATE: 11 February 2021 LANGUAGE: English

	A new article about the IAHCRC Study of cardiac involvement in ATP1A3-related disease (ECG2-ATP1A3 Study) has been published in the scientific journal Neurology. In the Editorial Comment to the article we read that "overall the Study confirms that cardiac disease can be found in ATP1A3-related conditions and provides recommendations for change in clinical management of all ATP1A3-related conditions, with a need for systematic cardiac investigation, as cardiac arrhythmic morbidity and mortality are potentially preventable. " The full Editorial Comment, written by Prof. Sanjay Sisodiya and Dr. Simona Balestrini (UCL), is available at this link

	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 8th Symposium on ATP1A3 in disease took place last October 3 and 4, 2019 in Reykjavik, Iceland (Visit the Official Website). 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. This year, 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. 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

last updated 18 January 2021