Previous publications on AHC do not always disclose the ethnicity of the participants, but the vast majority of patients were from European and American centres, which may suggest that the diagnosis, and the ATP1A3 mutation, are very rare in the black population.
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
As described above, WES of AHC patients detected de novo disease causal variants in ATP1A3. These variants showed higher damaging scores in predictions using Polyphen2.
(2012) De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
AHC is a genetic disorder caused by mutations in the ATP1A3 gene which encodes an [alpha]-subunit (the [alpha]3-isoform) of the [Na.sup.+]/[K.sup.+]-ATPase pump.
Genetic testing of the ATP1A3 gene is also important for AHC confirmation .
Since Atp1a3 is expressed in the SCN and circadian rhythm disturbances frequently occur in mania, Timothy and colleagues looked at the wheel-running rhythms of Myk/+ mice .
Thus, brain region-specific manipulations of the [Na.sup.+]/[K.sup.+]-ATPase [alpha]3 subunit may be worthwhile to determine whether the circadian and mania-like phenotypes of Myk/+ mice are due to pleiotropic effects of the Atp1a3 gene.
The mice were found to have a defective version of the gene ATP1A3 which led them to suffer spontaneous seizures.
Researchers managed to breed the defect out of epileptic mice by balancing "good" and "bad" genes - the researchers found genes without the defective version of ATP1A3 cancelled out genes with it during breeding.
makes an enzyme called a sodium-potassium pump that regulates levels of sodium and potassium in the brain's nerve cells.
By breeding these epileptic mice with mice that had an extra copy of a non-defective version of ATP1A3
gene, the research team noticed that their offspring were born without this debilitating condition.