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Article

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2018

Stagnaro Michela, Pisciotta Livia, Gherzi Marcella, Di Rocco Maja, Gurrieri Fiorella, Parrini Elena, Prato Giulia, Veneselli Edvige, De Grandis Elisa

Abstract excerpt

Mutations in the ATP1A3 gene, which encodes the alpha3-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome. Moreover, an increasing number of patients with intermediate and non...

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PMID: 29396171
DOI: 10.1016/j.ejpn.2018.01.010

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