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Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition

16 Aug 2019

Abstract excerpt

Dominant mutations of ATP1A3, a neuronal Na,K-ATPase α subunit isoform, cause neurological disorders with an exceptionally wide range of severity. Several new mutations and their phenotypes are reported here (p.Asp366His, p.Asp742Tyr, p.Asp743His, p.Leu924Pro, and a VUS, p.Arg463Cys). Mutations associated with mild or severe phenotypes [rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood...

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PMID: 31425744
DOI: 10.1016/j.nbd.2019.104577

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