Category: AHC Research

AHC Clinical Research in the UKAHC Clinical Research in the UK

The AHC and ATP1A3 Natural History Study  We would love to hear from you!   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 on 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‘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.  

Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case ReportEffect 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 studyCardiac 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 phenotypeNeuronal 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

Alternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairmentsAlternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments

Milton Pratt,  Julie Uchitel,  Nancy McGreal,  Kelly Gordon,  Lyndsey Prange,  Melissa McLean,  Richard J. Noel,  Blaire Rikard,  Mary K. Rogers Boruta &  Mohamad A. Mikati  Orphanet Journal of Rare Diseases volume 15, Article number: 231 (2020) 

Transcranial magnetic stimulation as a tool to understand genetic conditions associated with epilepsyTranscranial magnetic stimulation as a tool to understand genetic conditions associated with epilepsy

Katri SilvennoinenSimona BalestriniJohn C. RothwellSanjay M. Sisodiya First published: 12 August 2020 https://doi.org/10.1111/epi.16634 Funding Information: This study was supported by EC grant 279062, EpiPGX. This work was partly carried out at