NEWS YEAR 2025

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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APRIL 2025

16 APRIL 2025 
DR. ELISA DE GRANDIS HAS BEEN ELECTED AS THE NEW IAHCRC DEPUTY COORDINATOR

We are pleased to announce that Dr. Elisa De Grandis has been elected as the new IAHCRC Deputy Coordinator for the three-year term 2025-2027.
Dr. De Grandis is Consultant and Associate Professor in Child Neuropsychiatry at the Gaslini Children’s Hospital in Genoa, Italy, and at the Department of Neuroscience – Rehabilitation – Ophthalmology – Genetics – Child and Maternal Health (DINOGMI) of the University of Genoa, Italy.
She is also a founding member of the IAHCRC Consortium in 2014, and since then she has been the Coordinator of the Italian Node IAHCRC-IT.
Dr. De Grandis has a long experience in the study of AHC, having coordinated many national studies on the Italian patient cohort and having participated in many international studies, also within the IAHCRC Consortium (OBSERV-AHC, QTc-AHC, EEG-AHC, VARIA -ATP1A3 Studies).
Congratulations, Dr. Elisa De Grandis, and a heartfelt thank you for this further commitment as IAHCRC Deputy Coordinator, for the progress of research on AHC and all the ATP1A3-related diseases, and for a better healthcare for all patients worldwide!
Dr. Eleni Panagiotakaki (University Hospital of Lyon, France) has been confirmed as new IAHCRC Scientific Coordinator for the same 2025-2027 term, while Prof. Mohamad Mikati (Duke University, Durham, NC, USA) has taken on the role of Past Scientific Coordinator together with Prof. Alexis Arzimanoglou (San Juan de Deu Hospital, Barcelona, Spain).

             

12 APRIL 2025 
THE INFORMATION LEAFLET AND PATIENT JOURNEY FOR AHC ARE NOW ALSO AVAILABLE IN DUTCH ON THE WEBSITE OF THE EpiCARE NETWORK

The Information Leaflet and Patient Journey for AHC are now also available in Dutch on the official website of EpiCARE-ERN, the European Reference Network for Rare and Complex Epilepsies, thanks to the collaboration with the Dutch Patient Association AHC Kids Nederland - België.
The two documents were originally developed in English by our Data Manager Rosaria Vavassori, member of the Patient Advocacy Group EpiCARE-EPAG with the endorsement of the German Patient Association AHC18+ e.V., and by Katherine Behl, president of the British Association AHC-UK.
The aim of the EpiCARE Patient Journey and of the Information Leaflet for neurologists and for families, is to provide homogeneous and scientifically validated information about diagnosis, treatment and management of AHC, for all patients in Europe and worldwide.
A great collaboration developed by EpiCARE-ERN and its EPAG, between patient representatives and expert healthcare professionals!

             

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MARCH 2025

5 MARCH 2025 
THE RESULTS OF THE IAHCRC STUDY QTc-AHC, ABOUT CARDIAC DISORDERS ASSOCIATED TO THE ATP1A3-RELATED DISEASES, HAVE BEEN PUBLISHED ON JAMA PEDIATRICS

The results of another IAHCRC Study (QTc-AHC), about cardiac disorders associated to AHC and all ATP1A3-related syndromes, have been published on the prestigious journal JAMA Pediatrics. The QTc-AHC Study is led by Dr. Andrew Landstrom at the Duke University, Durham, NC, USA, and is a great example of international collaboration and data sharing within the IAHCRC Consortium.
Read the article on JAMA Pediatrics link

             

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JANUARY 2025

12 January 2025 
A NEW ARTICLE ABOUT SUDDEN DEATH IN EPILEPSY IN ATP1A3 MOUSE MODEL HAS BEEN PUBLISHED BY THE DUKE TEAM

The results of a study about sudden unexpected death in epilepsy in mouse model of the most common human ATP1A3 mutation have been published on the Scientific Journal Epilepsia by the team at the Duke University (Durham, NC, USA) led by Prof. Mohamad Mikati and Prof. Andrew Landstrom.

Here below, you can read the editorial note about this study written by Prof. Mikati, also highlighting the impact that the study results can have on the quality of healthcare received by AHC patients.
(The abstract of the article is available at this link. Please note that in addition a copy of the full article can be obtained for interested individuals by emailing the corresponding author at This email address is being protected from spambots. You need JavaScript enabled to view it. ).

A. Background Alternating Hemiplegia of Childhood (AHC) not only causes severe neurodevelopmental problems in all AHC patients and epilepsy in about half of them, but in some cases, it is also linked to sudden unexpected death in epilepsy (SUDEP). To develop strategies and therapies to prevent SUDEP in AHC patients, it is important to first study the causes and events that lead to SUDEP in animal models that exhibit AHC symptoms, as it is unclear whether SUDEP in AHC results from heart rhythm, breathing control abnormalities, or both. This study, a collaborative work between the laboratories of Drs. Mikati (Neurology), Landstrom (Cardiology), and Elmallah (Pulmonary) at Duke University, was conducted using the Mashlool mouse, the mouse model of AHC that carries the most common mutation causing AHC, the D801N mutation. B. The research identified the following findings: These AHC mice were found to manifest SUDEP which makes them an excellent model to screen medications for the prevention of SUDEP, with the eventual aim of translating those findings to patient treatments. These AHC mice were demonstrated to have abnormal central respiratory drive, slowing of breathing during seizures and a predisposition to apnea. AHC patients, similarly, have a predisposition to exhibit Apnea.  These AHC mice were observed to have heart rhythm abnormalities, specifically they had a slower heart rate before and during seizures. AHC patients also have a predisposition to exhibit a slow heart rate during stressful situations and seizures. Additional findings in this study uncovered in these mice abnormal firing coming of brainstem nerve activity important in control of breathing. It also uncovered and abnormal electrical activity in the heart in between and during seizures and not just slow heart rate. Both abnormal breathing and heart rhythm problems increased as age increased and as the number of seizures progressively increased.  SUDEP occurred at the time of a final severe seizure that causes irreversible apnea at the time of very slow heart rate.  C. The above findings emphasize the following for AHC patients: The importance of controlling seizures particularly of prolonged and severe ones. The importance of paying particular attention, during both routine and emergency clinical care of AHC patients, to heart rhythm and breathing rates particularly at the time of seizures. This includes, as much as and whenever possible, avoiding medications that can worsen slowing of the heart rate and that can suppress breathing. Studies such as this one help us to better understand the causes of SUDEP in AHC patients. This provides hope that we will continue to refine and develop strategies and medications that can ameliorate risks, as has already been done in some other types of genetic diseases that cause epilepsy. Editorial Note by Prof. Mohamad Mikati, January 2025

 

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