STUDIES OF THE CONSORTIUM
Any study which has been approved by the Assembly and has been designed in compliance with the Questionnaires and according to the protocols of the Consortium, is considered a Study of the Consortium.
The member that proposed the Study is its Coordinator.
In 2013 the Consortium launched the second collaborative study GPC-AHC, directed by Prof. Alexis Arzimanoglou and Doctor Eleni Panagiotakaki, aimed to identify possible correlations between the clinical phenotype associated with AHC and mutations in the ATP1A3 gene, with the goal to investigate whether different mutations can, in part, be responsible for the clinical heterogeneity observed in the disease.
The data were collected from the largest international cohort of AHC patients to date (155 patients), and the results of their analysis have been published in the Orphanet Journal of Rare Diseases (News, 01 October 2015).
The ECG-AHC study of the heart disturbances in AHC, coordinated by Prof. Sanjay Sisodiya and including 55 patients, has been published in the scientific journal BRAIN (Editorial Comment, 21 August 2015).
As a follow-up, a second study ECG2-ATP1A3 of the heart disturbances in AHC and all the ATP1A3 diseases has been launched in September 2015.
The study GEN2-AHC for the identification of the secondary gene(s) for AHC is in progress, coordinated by Prof. Arn van den Maagdenberg, and the launch of further studies, clinical, genetic and molecular has already been planned.
Prof. Arn van den Maagdenberg presenting the research of the secondary gene in AHC
carried out by the genetics labs of the IAHCRC Consortium,
at the Third Symposium on ATP1A3 in disease (Lunteren, NL, 29 – 31 August 2014)