Feb 7, 2008 · 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 ...

Sodium/potassium-transporting ATPase subunit alpha-3 is an enzyme that in humans is encoded by the ATP1A3 gene. [5] [6]

Dec 24, 2024 · 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.

Dec 5, 2024 · 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 ...

Sep 15, 2023 · ATP1A3 is α-3 catalytic subunit of the neuronal Na + /K + ATPase, an integral membrane protein regulating the electrochemical gradients of Na + and K + ions .

Mar 31, 2021 · Considered rare, ATP1A3-related disorders have been capturing our attention in the last decade by virtue of cumulative cases reporting an expanding range of clinical and genetic variability. In the same manner, next-generation sequencing technologies have arisen fulfilling a major role in the understanding of the genotype-phenotype association ...

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.

Feb 8, 2025 · ATP1A3 is the major pathogenic gene of AHC in Chinese patients. Impaired cognitive function may be a manifestation of ATP1A3 mutation and Rapid-onset dystonia-parkinsonism study shows that an allelic mutation in ATP1A3 produces CAPOS syndrome

Jul 26, 2022 · 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 …

Feb 8, 2025 · 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.