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.…
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 by Maria A. Rodriguez-Navarro, JM Morales Meseguer Hospital, Murcia, Spain and Mohamad A Mikati, Paediatric Neurologist, Duke University Medical Centre, Durham, NC,…
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,…
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…
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…
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…
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) …
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…
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”…