NOVEMBER 2025

11 NOVEMBER 2025 
THE RESULTS OF THE OBSERV-AHC STUDY HAVE BEEN PUBLISHED IN THE ANNALS OF THE CHILD NEUROLOGY SOCIETY

The results of the OBSERV-AHC Study, the main IAHCRC Study on natural history and therapy for AHC, have been published in open access on the Annals of the Child Neurology Society.
The full-text and the pdf to download are available at this link.
As stated in the Consclusions, "AHC is a progressive disease, and early childhood is the vulnerable period. We identified several novel prognostic indicators and a mortality rate, which provide critical information not only regarding prognostication, counseling, and underlying pathophysiology but also for planning therapeutic studies".
We heartily thank the patient organizations that supported this relevant and complex study along all these years, and all patients and families that contributed to it with their data and remarks.

             

15 NOVEMBER 2025 
THE POSTS FROM PATIENT ORGANIZATIONS ABOUT THE PUBLICATION OF THE RESULTS OF THE OBSERV-AHC STUDY

Beautiful Presentation by the AHC Europe Federation

Very Interesting Presentation by the AHC Kids Foundation, USA

             

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DECEMBER 2024

5 DECEMBER 2024 
INTERVIEW BY TORIE ROBINSON TO DR. ELENI PANAGIOTAKAKI

Torie Robinson interviewed paediatric neurologist Eleni Panagiotakaki, about rare and complex epilepsies such as Alternating Hemiplegia of Childhood (AHC) and GRIN disorders.
In the interview, Dr. Panagiotakaki highlighted the challenges in diagnosing and treating these rare and complex diseases, the variability of symptoms, and the importance of a holistic approach to care. She also emphasised the role of parents in driving research and improving understanding of these rare epilepsies.
Dr. Panagiotakaki is one of the main international experts in AHC and the Deputy Scientific Coordinator of the Iahcrc International Consortium.

Watch the interview on YouTube link
Listen to the Podcast link

Many thanks to Torie for this great interview! Many thanks to Dr. Panagiotakaki for her continued committment to the study and the care for AHC and all rare and complex epilepsies!

             

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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