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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 Fifth Edition of the Symposium will take place in London, UK, next 24 &ndash...

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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 Fifth Edition of the Symposium will take place in London, UK, next 24 &ndash...
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2 introduction
3 presentation
4 objectives and mission
5 members
6 governance
7 workgroups
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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 Fifth Edition of the Symposium will take place in London, UK, next 24 &ndash...

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1

Presentation

http://www.iahcrc.net/consortium/presentation.html

Is a network of clinical centres, research labs and scientific organizations producing and collecting the patient data according to unique common formats, protocols and procedures, in order to share them for collaborative studies about AHC and the other ATP1A3 diseases. Based on the results of such studies, it also produces public documentation to be used as guidelines and recommendations for the health and social care of the AHC and all the ATP1A3 patients. The management and standardization. Is a clust...

2

Introduction

http://www.iahcrc.net/consortium/introduction.html

Alternating Hemiplegia of Childhood (AHC). Is a rare neurological disease caused by specific groups of mutations in the. 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. Gene ( Heinzen at al. The International Alliance for AHC, in particular by A.I.S.EA. The propo...

3

Objectives & Mission

http://www.iahcrc.net/consortium/objectives-misssion.html

The IAHCRC Consortium aims to accelerate clinical and basic science research in the field of AHC to improve the quality of life of the patients affected by the ATP1A3 diseases and of their families. Its specific objectives are:. Contribute actively to the collaborative study of the pathogenetic mechanisms of the ATP1A3 diseases and to the development of an effective treatment for all of them;. International Consortium for the Research on Alternating Hemiplegia of Childhood and other ATP1A3 related diseas...

4

Members

http://www.iahcrc.net/consortium/members.html

All the Clinical Centres, Research laboratories and Scientific organizations in the world with active involvement in the research and in the care for AHC or for any other ATP1A3 diseases, and with an interest to be involved and work in collaboration with the other members, can be a member of the Consortium. IAHCRC-US Consortium, USA. Duke University, School of Medicine, Durham, NC, USA. Division of Pediatric Neurology, Department of Neurobiology (Prof. Mohamad A Mikati. IAHCRC-FR Consortium, France.

5

Workgroups

http://www.iahcrc.net/consortium/workgroups.html

The Standardization Workgroups develop the questionnaires and the protocols for the data assessment, collection and keeping of the patient data at the databases managed by the Nodes. They also develop standard methods and operating procedures for the execution of the studies in their own areas of competence. Leader: Dr. Eleni Panagiotakaki. Leader: Prof. Arn van den Maagdenberg. Leader: Prof. Mohamad Mikati. Prof Mohamad Mikati presenting findings from the mouse model of D801N mutation of ATP1A3 in AHC,.

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Archive News – Alternating Hemiplegia of Childhood UK Support Group

https://ahcuk.co.uk/category/archive-news

Alternating Hemiplegia of Childhood UK Support Group. UK support group's news and forum for people dealing with alternating hemiplegia of childhood. Cause of AHC identified. Easy Fundraising for AHC. Archive Donations and Fundraising. August 6, 2016. Jade Henderson completed the tough mudder on 25th June 2016, along with the rest of her team ‘the fat and the furious’. There were 13 of them in the team and they managed to complete the 12 mile obstacle course in 4 and a half hours. Jade is number 24842.

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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 Fifth Edition of the Symposium will take place in London, UK, next 24 &ndash...

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