AHC Clinical Research in the UK
We would love to hear from you! The AHC and ATP1A3 Natural History Study Alternating Hemiplegia of Childhood (AHC) is an ultra-rare disease with an estimated one in a million occurrence. Patients suffer from a combination of disabling paroxysmal events (hemiplegic or dystonic attacks and, in some cases, epileptic seizures) and varying degrees of permanent neurologic features (ataxia, dystonia, neurocognitive delay, mental health problems). It is a disabling condition that impacts severely the quality of life of the affected individual and their families. About 75% of the patients have a mutation in the gene ATP1A3, in the others the cause of AHC is mostly unknown. Curative therapies are not as yet available and the medications used to alleviate symptoms like hemiplegia, dystonia, and seizures are helpful for some, but not all patients. As long-term follow-up studies are lacking, clinicians cannot provide families with an accurate prognosis. Driven by our inability to substantially help our growing cohort of afflicted patients, and with the support of AHCUK, the UK support group, we have set up the AHC and ATP1A3 natural history study led by Professor Helen Cross and Dr Katerina Vezyroglou at Great Ormond Street Hospital in London. The study aims to answer some of the unanswered questions about AHC, such as Why are different patients affected differently? Can MRI and EEG help us predict the severity of the disease? What causes AHC in patients without a ATP1A3 mutation? All patients (children and adults) with AHC or/and with a mutation in ATP1A3 are welcome to participate. If you have questions or are interested to find out more, please get in touch at k.vezyroglou@ucl.ac.uk While viewing the pdf attached…
‘AHC and ATP1A3 Natural History Study’ Q&A session with Dr. Katerina Vezyroglou
Thank you to everyone who joined in this helpful Question & Answer session in November of last year with Dr. Katerina Vezyroglou on her research work. As promised, we have included the link to the recorded zoom session for those of you who were unable to attend the event. We hope you find this helpful and as in the session, Dr. Vezyrouglou is very happy to hear from anyone who would like to ask any more questions. All questions are welcome. As discussed in the zoom chat, this project also feeds into the OBSERV AHC natural history study involving many international centers.
Alternating Hemiplegia of Childhood (AHC) Published in the Rare Revolution Magazine
The Autumn 2020 edition of the Rare Revolution Magazine was entirely dedicated to rare and complex epilepsies of which Alternating Hemiplegia of Childhood was highlighted. The article was written by…
Emergency Care Aid for Alternating Hemiplegia of Childhood Patients
A REFERENCE GUIDE FOR MEDICAL PROFESSIONALS We would like to thank our sister AHC Charity organisation (AHCF) in the United States for this attached document for parents and medical professionals.…
Nov 2020 Research Newsletter
Hello Friends Attaching our November 2020 Research Newsletter – Our AHC researchers continue to work across the world to try and make progress in understanding this complex condition. There are…
Anaesthesia recommendations for Alternating Hemiplegia of Childhood syndrome
Anaesthesia recommendations for Alternating Hemiplegia of Childhood syndrome by Maria A. Rodriguez-Navarro, JM Morales Meseguer Hospital, Murcia, Spain and Mohamad A Mikati, Paediatric Neurologist, Duke University Medical Centre, Durham, NC,…
Pictures from IAHCRC on Social Media: OBSERV-AHC Study | Start of the Data Collection
Data collection for the OBSERV-AHC Study (a Study of the IAHCRC Consortium) has just started in Spain, France, UK, and the USA, supported by their national patient associations. In Italy,…
Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case Report
Shouichirou Kusunoki Jun Kido Ken Momosaki Takaaki SawadaTomoko Kashiki Shirou Matsumoto Kimitoshi NakamuraDepartment of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan AbstractAlternating hemiplegia of childhood (AHC) (MIM…
Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study
View ORCID Profile Simona Balestrini, Mohamad A Mikati, Reyes Alvarez Garcia-Roves, View ORCID Profile Michael Carboni, Arsen S Hunanyan, Bassil Kherallah, Melissa McLean, Lyndsey Prange, Elisa De Grandis, Alessandra Gagliardi, View ORCID Profile Livia Pisciotta, Michela Stagnaro, Edvige Veneselli, Jaume Campistol, Carmen Fons, Leticia Pias-Peleteiro, View…
Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype
John P.Snow GrantWestlake Lindsay K.Klofas SoyounJeon Laura C.Armstrong Kathryn J.Swoboda Alfred L.GeorgeJr Kevin C.Ess https://doi.org/10.1016/j.nbd.2020.104881 Highlights iPSCs and isogenic corrected controls were generated from an AHC patient harboring a heterozygous…