ATP1A3-related syndromes: our case-series unveiling a dynamic, fever-triggered and overlapping array of neurological phenotypes
G. Errichiello·L. D’Acunto·F. Acquaviva·S. Troisi·M. Rosa·G. Bargiacchi·F. Esposito·A. Rubino·M. Carotenuto·A. Varone·P. Bernardo
Abstract Introduction ATP1A3-related neurological disorders show a broad spectrum of manifestations, usually with autosomal dominant transmission. Classical phenotypes include alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism (RDP), and syndrome characterized by cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS). Additional rarer forms include childhood-onset-schizophrenia (COS), encephalopathy with MRI abnormalities without h