Genetic research has shown that mutations that modify the protein-coding sequence of
ATP1A3, the gene encoding the α 3 subunit of Na+/K+-ATPase, cause both rapid-onset …

Background ATP1A3 mutations have now been recognized in infants and children
presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia …

Although dystonias are a common group of movement disorders, the mechanisms by which
brain dysfunction results in dystonia are not understood. Rapid-onset Dystonia …

DYT1 is a debilitating movement disorder caused by loss-of-function mutations in torsinA.
How these mutations cause dystonia remains unknown. Mouse models which have …

The transmembrane Na+-/K+ ATPase is located at the plasma membrane of all mammalian
cells. The Na+-/K+ ATPase utilizes energy from ATP hydrolysis to extrude three Na+ cations …

Objectives Mutations in the ATP 1α3 subunit of the neuronal Na+/K+‐ATP ase are thought to
be responsible for seizures, hemiplegias, and other symptoms of alternating hemiplegia of …

One of the great mysteries in dystonia pathophysiology is the role of environmental factors in
disease onset and development. Progress has been made in defining the genetic …

Decreased Na+, K+-ATPase (NKA) activity causes energy deficiency, which is commonly
observed in neurodegenerative diseases. The NKA is constituted of three subunits: α, β, and …

Loss-of-function mutations in the α3 isoform of the sodium pump are responsible for Rapid
Onset Dystonia–Parkinsonism (RDP). A pharmacologic model of RDP replicates the most …

Restless legs syndrome (RLS), also known as Willis–Ekbom disease, is a sensory–motor
neurological disorder with a circadian component. RLS is characterized by uncomfortable …