Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.

doi:10.1016/j.nbd.2020.105012

Article

Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.

Neurobiology of disease - 1 Sept 2020

Lazarov Elinor, Hillebrand Merle, Schröder Simone, Ternka Katharina, Hofhuis Julia, Ohlenbusch Andreas, Barrantes-Freer Alonso, Pardo Luis A, Fruergaard Marlene U, Nissen Poul, Brockmann Knut, Gärtner Jutta, Rosewich Hendrik

Abstract excerpt

Heterozygous mutations in the ATP1A3 gene, coding for an alpha subunit isoform (α3) of Na+/K+-ATPase, are the primary genetic cause for rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC). Recently, cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS), early infantile epileptic encephalopathy (EIEE), childhood rapid onset ataxia (CROA) and...

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Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.

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