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Article

ATP1A3-related disorders in the differential diagnosis of acute brainstem and cerebellar dysfunction.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2021

Duat-Rodríguez Anna, Prochazkova Michaela, Sebastian Isabel Perez, Extremera Veronica Cantarin, Legido Maria Jimenez, Palero Serafin Rodriguez, Ortiz Cabrera Nelmar Valentina

Abstract excerpt

Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia-Parkinsonism (RDP), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss) are all caused by mutations in the same gene: ATP1A3. Although initially they were considered separate disorders, recent evidence suggests a continuous clinical spectrum of ATP1A3-related disorders. At onset all these...

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Brain Stem
Cerebellar Ataxia
Diagnosis, Differential
Dystonic Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sodium-Potassium-Exchanging ATPase

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PMID: 34464766
DOI: 10.1016/j.ejpn.2021.08.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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