---

NOVEMBER 2024

8 NOVEMBER 2024 
THE IAHCRC CONSORTIUM AT THE 12^TH SYMPOSIUM ON ATP1A3 IN DISEASE

The 12th International Symposium on ATP1A3 in Disease will take place in Barcelona, Spain, next 14-15 November, 2024. The Organising Committee includes Dr. Carmen Fons as Chair (Hospital San Juan de Deu, Barcelona, Spain), Prof. Alfred George (Northwestern University, Feinberg School of Medicine, Chicago, USA), Dr. Eleni Panagiotakaki (University Hospitals of Lyon, France), Dr. Anne Poulsen (Aharus University, Denmark), Mr. Marc Gambús and Mrs. Bridget Vranckx (Spanish Patient Association A.E.S.H.A. www.aesha.org).
The main topics will be presented and discussed regarding understanding the ATP1A3 structure and function, model systems, gene-based treatments, pharmacological and functional treatments, clinical trials models for rare diseases, biomarkers, clinical advances and what matters for families.
Results from three main IAHCRC Studies will be presented by their respective leaders: the OBSERV-AHC Study on the natural history of AHC by Prof. Mohamad Mikati, Duke University, USA; the QTc-AHC Study on cardiac disturbances associated to the ATP1A3-related syndromes, by Dr. Andrew Landstrom, Duke University, USA; the EEG-AHC Study on sleep in AHC, that also includes a survey for families on the quality of sleep in their children, by Dr. Simona Balestrini, University College of London, UK.
Prof. Alexis Arzimanoglou, IAHCRC Past Coordinator and current Coordinator of Epicare-ERN, the Network for Rare and Complex Epilepsies www.epi-care.eu, will present the European Reference Networks (ERN's) as an essential asset at the service of rare and complex diseases such as AHC and all ATP1A3-related syndromes.
In the evening of the first day of the Symposium, a brainstorming session will take place, reserved to the IAHCRC members, to discuss about the continuity of the Consortium and its future actions as an international research network. We heartily thank A.E.S.H.A. for their support in organizing this session.

For more information about the Symposium, visit the official website www.atp1a3barcelona.org

             

---

DECEMBER 2023

22 DECEMBER 2023 
THE RESULTS OF THE IAHCRC STUDY FOR THE SEARCH OF SECONDARY GENES IN AHC (GEN2-AHC STUDY) HAVE BEEN PUBLISHED IN A SCIENTIFIC JOURNAL

The results of the GEN2-AHC Study carried out within the collaborative framework of the IAHCRC Consortium, about the search of secondary genes for AHC in ATP1A3-negative patients, have been published in the European Journal of Human Genetics.
This great IAHCRC Study, led by Prof. Arn van den Maagdenberg (Leiden University, Holland) and by Prof. Erin Heinzen (Columbia University, USA), confirms the involvement of RHOBTB2 and ATP1A2 genes in AHC, but not the CLDN5 gene, all of them already reported by other research groups.
The study also identifies the gene SCN2A as a novel causative gene for AHC, never reported by any other research group.
Unfortunately, most ATP1A3-negative AHC patients remain genetically unexplained, and more studies along this pathway are very much needed.
The article is available at this link.

             

OCTOBER 2022

19 - 21 OCTOBER 2022 
A SUCCESSFUL 10TH ANNIVERSARY AHC MEETING AND ATP1A3 IN DISEASE SYMPOSIUM TOOK PLACE IN EDINBURGH AND ONLINE

The 10th anniversary AHC meeting and Symposium on ATP1A3 in Disease took place last October 19 - 21, in Edinburgh and online.
Many heartfelt thanks to all the Organizing Committee and in particular to the Association AHC UK - Alternating Hemiplegia of Childhood UK and its vice-president, Dr. Katherine Behl, for this memorable event!
It was full of great news about the progress of research on AHC and all the ATP1A3-related diseases, with also many new ideas and call to actions for a better healthcare and a better quality of life for all patients and their families.

             

DECEMBER 2021

22 December 2021 
THE INFORMATION LEAFLETS AND THE PATIENT JOURNEY FOR AHC HAVE BEEN PUBLISHED ON THE EPICARE WEBSITE

The news of the publication of the leaflet and patient journey for AHC has been included in the newsletter of EpiCARE-ERN, the European Reference Network for Rare and Complex Epilepsies.
The information leaflet, for healthcare professionals and for patients and caregivers, and the patient journey are developed for each rare and complex epilepsy represented in the network, as a joint project of the experts and managers of EpiCARE-ERN together with the patient advocates of the ePAG group.
We thank them all for creating such great and useful documents to raise awareness on AHC and develop a better healthcare for all patients!
Many thanks in particular to our Data Manager Dr. Rosaria Vavassori and Katherine Behl, vice-president of AHC UK - Alternating Hemiplegia of Childhood UK for writing the text, and to Dr. Eleni Panagiotakaki and Dr. Maria Papadopoulou, at the University Hospital of Lyon, France for their scientific review.

The information leaflet and the patient journey for AHC can be downloaded from the EpiCARE website at this link link

 

OCTOBER 2020

12 OCTOBER 2020 
AN ARTICLE ON AHC PUBLISHED IN RARE REVOLUTION MAGAZINE  

Read the article on AHC published in the Autumn 2020 edition of Rare Revolution Magazine entirely dedicated to rare and complex epilepsies.
Written by Rosaria Vavassori, our Data Manager, and Katherine Behl, vice-president of AHC-UK, the AHC patient association in Great Britain; both their children are affected by AHC.
https://bit.ly/3jQI4Wr