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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,…
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…
Alternating 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…
Transcranial 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…
[BBC News] My one-in-a-million daughter is a ‘human timebomb’
This article was featured on the BBC Scotland service on World Rare Disease Day 2019 21 March 2019 An Edinburgh mother has described her 18-month-old daughter as a “human timebomb”…
[The Scottish Sun] TOT’S AGONY Scots baby girl suffers one-in-a-million ‘human timebomb’ condition which causes terrifying stroke-like paralysis
Article in The Scottish Sun Stricken Anya Behl, from Edinburgh, suffers from Alternating Hemiplegia of Childhood – and was once left paralysed down her right side for two weeks By…
AHC UK Feb 2020 Newsletter Updates
AHC UK Newsletter – Feb 2020 Wishing everyone a very happy and healthy start to 2020. Thank you for following our AHC UK Newsletter. If you know of other families,…