NEWS YEAR 2024

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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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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

             

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FEBRUARY 2024

12 FEBRUARY 2024 
AN ARTICLE HAS BEEN PUBLISHED ON THE IAHCRC STUDY ABOUT EFFICACY OF CBD IN AHC

The results of another great study carried out by the IAHCRC centers in the USA and in France about the efficacy of CBD in AHC (CBD-AHC Study), have been published in the European Journal of Pediatric Neurology at this link.
We read in the authors' conclusions: "Our observations support that CBD may be of benefit in the management of paroxysmal spells in AHC with a favorable side effects profile. However, further confirmation is needed in prospective controlled trials. Our current observations lay the groundwork for the performance of such prospective, controlled studies evaluating the use of CBD in AHC."
The CBD-AHC Study was aimed to achieve one of the main goals of the much wider OBSERV-AHC Study, on natural history and therapies for AHC, i.e. to determine the efficacy of the current treatments in use for AHC, such as flunarizine, cannabinoids and ketogenic diet (ongoing KETO-AHC Study)

             

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