Article
Alternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments.
Orphanet journal of rare diseases - 3 Sept 2020
Pratt Milton, Uchitel Julie, McGreal Nancy, Gordon Kelly, Prange Lyndsey, McLean Melissa, Noel Richard J, Rikard Blaire, Rogers Boruta Mary K, Mikati Mohamad A
Abstract excerpt
BACKGROUND: Alternating Hemiplegia of Childhood (AHC) is caused by mutations of the ATP1A3 gene which is expressed in brain areas that include structures controling 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...
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