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)
Alternating Hemiplegia of Childhood (AHC) is caused by mutations of the ATP1A3 gene which is expressed in brain areas that include structures controlling autonomic, gastrointestinal, gut motility and GABAergic functions. We aimed to investigate, in a cohort of 44 consecutive AHC patients, two hypotheses: 1) AHC patients frequently manifest gastrointestinal, particularly motility, problems. 2) These problems are often severe and their severity correlates with neurological impairments.