The Na+/K+ ATPases are Sodium-Potassium exchanging pumps, with a heteromeric α-β-γ
protein complex. The α3 isoform is required as a rescue pump, after repeated action …

Paroxysmal movement disorders (PMDs) are rare neurological diseases typically
manifesting with intermittent attacks of abnormal involuntary movements. Two main …

Alternating Hemiplegia of Childhood (AHC) is a severe pediatric neurological disorder [1
e9]. It manifests a spectrum of manifestations some of which occur in most or all patients and …

Here, we describe the process of development of the methodology for an international
multicenter natural history study of alternating hemiplegia of childhood as a prototype …

The ATP1A3 gene which encodes the Na+/K+-ATPase α3 catalytic subunit plays a crucial
role in both physiological and pathological conditions in the brain, and mutations in this …

Alternating hemiplegia of childhood is a rare neurodevelopmental disorder caused by
ATP1A3 mutations. Some evidence for disease progression exists, but there are few …

Alternating hemiplegia of childhood is a rare neurological disease characterized by
paroxysmal movement disorders and chronic neurological disturbances, with onset before …

Objectives: To describe the complex phenotype of ATP1A3 and second to report new
mutation of ATP1A3. Methods: This is a retrospective chart review of 7 patients who was …

Introduction We previously reported that ATP1A3 c. 823G> C (p. Ala275Pro) mutant causes
varying phenotypes of alternative hemiplegia of childhood and rapid-onset dystonia …

Recent advances in genetic diagnosis have revealed the underlying etiology of many
epilepsies and have identified pathogenic, causative variants in numerous ion and ligand …