Intermediate Phenotypes of ATP1A3 Mutations: Phenotype–Genotype Correlations

摘要

BackgroundATP1A3-related disorders include rapid-onset dystonia–parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss).