2008年2月7日 · ATP1A3 -related disorder consists of heterogenous overlapping clinical findings that pertain to the four most common historically defined phenotypes: alternating hemiplegia of childhood (AHC); cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS) syndrome; relapsing encephalopathy with cerebellar ataxia (RECA...

2024年12月5日 · Clinical characteristics: ATP1A3-related disorder consists of heterogenous overlapping clinical findings that pertain to the four most common historically defined phenotypes: alternating hemiplegia of childhood (AHC); cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS) syndrome; relapsing encephalopathy ...

2024年12月24日 · ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3) is a Protein Coding gene. Diseases associated with ATP1A3 include Dystonia 12 and Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss. Among its related pathways are Cardiac conduction and Infectious disease.

The ATP1A3 gene provides instructions for making one part (the alpha-3 subunit) of a protein known as Na+/K+ ATPase or the sodium pump. This protein uses energy from a molecule called adenosine triphosphate (ATP) to transport charged atoms (ions) into and out of cells.

ATP1A3 contains 23 exons and 22 introns, and encodes a protein of 1013 amino acids, consisting of the α3 subunit of Na + /K + -ATPase, which is located on chromosome 19q13.2 and is expressed primarily in brain neuronal cells (1).

We describe the phenotypic features of individuals carrying a pathogenic/likely pathogenic ATP1A3 variant and perform a literature review of all ATP1A3 variants published thus far in association with human neurologic disease.

2021年3月31日 · 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 potentials, with a distribution predominantly in neurons of the central nervous system. This isoform is encoded by the ATP1A3 gene.

2022年7月26日 · Nervous system dysfunction due to mutations of ATP1A3 gene was characterized by a group of genotypic-phenotypic interrelated disease pedigrees with multiple clinical manifestations. The presented results might help guide the diagnosis and treatment of ATP1A3 -related diseases and provid …

2025年2月8日 · Clinical resource with information about ATP1A3, Alternating hemiplegia of childhood 2, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Developmental and epileptic encephalopathy 99, Dystonia 12, and available tests.

The ATP1A3 gene encodes the alpha-3 catalytic subunit of the Na+/K(+)-ATPase transmembrane ion pump. The ATP1A3 isoform is exclusively expressed in neurons of various brain regions, including the basal ganglia, hippocampus, and cerebellum (summary by Rosewich et al., 2012).