Article
ATP1A3-Associated Paroxysmal Dystonia.
Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2024
Ledoux Mark S
Abstract excerpt
Background: ATP1A3 mutations are associated with a diverse set of distinct neurological syndromes and intermediate phenotypes that may include extra-neural features. Overall, genotype-phenotype correlations are weak. There are no consensus treatments. Case report: Video and clinical documentation is provided for a patient with a novel ATP1A3 mutation (GRCh38:19:41982028:C:A;NM_152296.5:c.1072G>T;p.Gly358Cys)....
Topics
- Humans
- Sodium-Potassium-Exchanging ATPase
- Mutation
- Female
- Dystonia
- Male
- Dystonic Disorders
- Oxcarbazepine
- Clonazepam