ATP1A3


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ATP1A3

A gene on chromosome 19q13.31 that encodes an enzyme belonging to the family of P-type cation transport ATPases and the subfamily of Na+/K+ -ATPases, the latter of which are responsible for establishing and maintaining electrochemical gradients of Na and K ions across the plasma membrane; they are required for osmoregulation in sodium-coupled transport of various organic and inorganic molecules, and for electrical excitability of nerve and muscle.
References in periodicals archive ?
Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood--a study of 155 patients.
Treatment with oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 mutation.
Since the original description of AHC, many endeavours have been made to understand the pathophysiology of the disease which resulted in linking the disease with mutations in the gene ATP1A3. Despite this substantial progress in the understanding of the disease, no curative treatment has been discovered, and the disease continues to be challenging to treat.
Stagnaro et al., "Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood - a study of 155 patients," Orphanet Journal of Rare Diseases, vol.
Swoboda, "The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, alternating hemiplegia of childhood, rapid-onset Dystonia-Parkinsonism, CAPOS and beyond," Pediatric Neurology, vol.
Brashear et al., "Distinct neurological disorders with ATP1A3 mutations," The Lancet Neurology, vol.
Zou, "Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation," Orphanet Journal of Rare Diseases, vol.
Artuch et al., "Alternating hemiplegia of childhood with a de novo mutation in atp1a3 and changes in SLC2A1 responsive to a ketogenic diet," Pediatric Neurology, vol.
McCormack et al., "Evidence for an allelic association between bipolar disorder and a [Na.sup.+], [K.sup.+] adenosine triphosphatase alpha subunit gene (ATP1A3)," Biological Psychiatry, vol.
The researchers found that these mice have a defective Atp1a3 gene, which led to them all having spontaneous seizures displaying the characteristic brain activity of epilepsy.
When the epileptic Myshkin strain was bred with a transgenic mouse strain that has an extra copy of the normal Atp1a3 gene, the additional normal gene counteracted the faulty gene - resulting in offspring, which were completely free from epilepsy.
However, the human ATP1A3 gene matches the mouse version of the gene by more than 99 per cent, so we've already started to screen DNA samples from epilepsy patients to investigate whether ATP1A3 gene defects are involved the human condition," Dr Clapcote added.