Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism

Abstract

Mutations in the ATP1A3 gene, which encodes the α3 subunit of sodium-potassium ATPase, are related to rapid-onset dystonia-parkinsonism (RDP) and, recently, to alternating hemiplegia of childhood (AHC).1 Here we describe a patient with a de novo ATP1A3 mutation, previously linked to a severe infant variant phenotype for RDP, presenting a new early-onset variant overlapping between the 2 disorders. Acknowledgment: The authors thank Karrie Cannistra for English editing, Dr. Azzurra Guerra for producing the first video, and the Italian Association of Alternating Hemiplegia of Childhood (AISEA onlus) for continuing support.