Welcome!
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).
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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 |
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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.
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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). 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). |
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![]() Dr. David Goldstein, chairing the |
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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:
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last updated 18 January 2021