NEWS YEAR 2022

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.

             

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SEPTEMBER 2022

30 September 2022 
A NEW ARTICLE ABOUT A NATIONAL STUDY OF SLEEP IN AHC HAS BEEN PUBLISHED

The results of a study of sleep in AHC, carried out in UK by the UCL team led by Dr. Simona Balestrini, have been published in the scientifi journal PLOS ONE.
The article has been published in open access, so that the full text can be read online and downloaded as pdf at this link
You can read the editorial note about this study written by Dr. Balestrini on the IAHCRC Website at this link
In order to expand their analysis and validate these results on a larger cohort, Dr. Balestrini and her team are now leading a multicentric study inside the collaborative framework of the IAHCRC Consortium, where they are collecting prolonged EEG recording including sleep and wakefulness and polysomnography data (Presentation of the IAHCRC Study EEG-AHC, ).

 

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AUGUST 2022

28 August 2022 
10-YEAR ANNIVERSARY CONFERENCE ON ALTERNATING HEMIPLEGIA OF CHILDHOOD AND 10TH SYMPOSIUM ON ATP1A3 IN DISEASE

The programme of the 10-year anniversary Conference on Alternating Hemiplegia of Childhood joint to the 10th Symposium on ATP1A3 in Disease (Edinburgh, 19 - 21 October 2022) has been published at this link 

Look at the three days conference with many prestigious speakers participating and their discussions. Participation is possible in person and online.

Clinicians, researchers and any other stakeholders can register at this link
Families interested to participate should contact their associations in their own countries or the organizing association in UK at this email address This email address is being protected from spambots. You need JavaScript enabled to view it.

 

             

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APRIL 2022

6 APRIL 2022 
A NEW STUDY ON THE ATP1A3-RELATED DISEASES HAS BEEN LAUNCHED INSIDE THE IAHCRC CONSORTIUM

We are now delighted to announce the launch of the new IAHCRC Study VARIA-ATP1A3, led by Dr Katharina Vezyroglou, at the University College of London - Great Ormond Street Children Hospital, UK.
According to Dr. Vezyroglou:

... VARIA-ATP1A3 is a new study spearheaded by the IAHCRC Consortium with which we are trying to expand our knowledge of the rarer ATP1A3 variants by using an online survey to collect the phenotypic characteristics of patients carrying them. To do this as effectively as possible we are currently setting up a large network of collaborators from all around the globe and we are happy to hear from all colleagues interested in participation. ....
If successful, this study will help doctors and researchers give families a more accurate prognosis early on and support patients with appropriate therapies. The knowledge we gain might help us diagnose patients with atypical AHC earlier. Finally, having a registry of patients carrying rarer variants might be valuable for future research into better understanding ATP1A3 protein function, as well as for clinical application of precision medicine approaches as they become available.

The complete description of the VARIA-ATP1A3 Study by Dr. Vezyroglou is available at this link 

 

             

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MARCH 2022

31 MARCH 2022 
DR. ELENI PANAGIOTAKAKI HAS BEEN ELECTED AS IAHCRC DEPUTY COORDINATOR FOR THE YEARS 2022 - 2024

We are pleased to announce that Dr. Eleni Panagiotakaki is the new Deputy Coordinator of the IAHCRC Consortium for the years 2022 - 2024. She has been elected by the majority of the IAHCRC member centers through an on line voting that took place according to the rules defined in the IAHCRC Charter Version 2.3 - October 2011.
Dr. Panagiotakaki is senior Paediatric Neurologist – Epileptologist, and has been in charge since 2008 of the Paediatric Clinical Epileptology unit at the ‘Hôpital Femme Mère Enfant’ in the University Hospitals of Lyon (HCL), France.
She has a long experience in the study of AHC and in the care of the affected patients, having worked closely with Prof. Jean Aicardi for many years and then with Prof. Alexis Arzimanoglou. She was one of the main contributor to the ENRAH project (2005 - 2011) and to the nEUroped project (2008 -2011), both funded by the European Union. At the end of the ENRAH project, she was the first author of a paper in the scientific journal BRAIN on the evolution of AHC, which is still one of the most referenced article on AHC in the scientific literature.
In 2011-2012, her center, in collaboration with Dr Sophie Nicole, genetic scientist at the INSERM, Paris, contributed to the identification of the ATP1A3 gene as the main genetic cause of AHC. She was one of the founding members of the IAHCRC Consortium in 2014 and since then she has been the leader of the Phenotyping Standardization Workgroup.
Currently she is the Principal Investigator at her Center in Lyon of all the IAHCRC Studies concerning AHC (OBSERV-AHC, QTc-AHC, HEPNOS-CIRCA/EEG-AHC).
With the University Hospitals of Barcelona, Spain (Pr Carmen Fons) and of Genoa, Italy (Pr Elisa de Grandis) she is working along with Pr Danilo Tiziano (Catholic University of Rome) on a hopeful project of Drug Repurposing (TREAT-AHC). Pr Mohamad Mikati (Duke University) is contributing the expertise of his laboratory to bring this project towards a successful end. As we read in her application to the role of IAHCRC Deputy Coordinator, Dr. Panagiotakaki's plan for the next three years

... will be centered in the optimal preparation for all upcoming treatment projects. Finding the best way to describe all the aspects of the disease, in order to design efficacious drugs, is the concern of various teams in the domain. Creating new ways of perceiving the disease, not only from a medical, but also from patients’ and caregivers’ points of view. Finding solutions to make life easier for the patients.
Ten years after the discovery of ATP1A3 gene, the time has come to move on to new horizons towards the most appropriate treatments possible.

Congratulations, Dr. Panagiotakaki, and many thanks for this further committment as IAHCRC Deputy Coordinator, for the progress of the research on AHC and all the ATP1A3-related diseases and for a better healthcare assistance for all patients!

Prof Mohamad Mikati (Duke University, USA) has been confirmed as IAHCRC Scientific Coordinator for the same time period while Prof. Alexis Arzimanoglou (University Hospitals of Lyon, France) took on the role of Past Scientific Coordinator.

             

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JANUARY 2022

18 JANUARY 2022 
AN INTERESTING TALK ON AHC WITH ALEXIS ARZIMANOGLOU AND ROSARIA VAVASSORI

Networking, collaboration, data sharing and patient engagement are key factors for successful research and effective healthcare for patients affected by a rare and complex disease such as AHC.
Watch Torie Robinson's interview to Prof. Alexis Arzimanoglou, IAHCRC Past Coordinator and Coordinator of EpiCARE-ERN, and Rosaria Vavassori, IAHCRC Data Manager and patient advocate for ePAG EpiCARE