After four months of tests, the couple were told their daughter had the ATP1A3
gene, which is responsible for about 80 per cent of AHC cases.
After four months of tests and thinking that Anya was suffering from epilepsy, Katherine was told her daughter had the ATP1A3
[1-3] The diagnosis of AHC was previously based solely on clinical manifestations, but in 2012 mutations in the ATP1A3 gene encoding the sodium-potassium ATPase [alpha]3 subunit were identified as the primary genetic cause of the disease.
Unfortunately genetic testing for the ATP1A3 mutation is not available in SA.
For example, WES of seven trios detected disease causal variants in ATPase Na+/K+ Transporting Subunit Alpha 3 (ATP1A3
) for alternating hemiplegia of childhood (AHC), which is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurological manifestations.
It is an extremely rare genetic disorder related to ATP1A3
gene mutations with an estimated prevalence of 1/1,000,000 children.
Myk/+ mice carry a missense mutation in the Atp1a3
gene, encoding the neuron-specific [alpha]3 subunit of [Na.sup.+]/[K.sup.+]-ATPase .
Roder, "Decreased neuronal [na.sup.+], [K.sup.+]-ATPase activity in atp1a3
heterozygous mice increases susceptibility to depression-like endophenotypes by chronic variable stress," Genes, Brain and Behavior, vol.
Category Group Regulated core genes Cardiac hypertrophy WB TPM1.FGF23 Cardiac hypertrophy Imipramine EPO, UCN2, TERT, VDR, ACE Cardiac arrhythmia lmipramine ATP1A3
, SCN1A, KCNH7, KCNG2, KCNQ1, ADORA1, ADRA1B, ADRB3, ADRA1D Cardiac adenopathy EtOH-Fr DLCAP4, MTHFS, EVC2, MAPK9.
However, the latest study by the researchers from Swansea University, working with counterparts from the Us niversity of Leeds - published this week in the journal PNAS (Proceedings of the National Academy of Sciences) - shows that a mutation in a gene called ATP1A3
can lead to a severe form of epilepsy in mice.
The researchers were able to do so after identifying that a faulty version of a gene known as Atp1a3
is responsible for causing epileptic seizures in mice.
The research suggested that the mice shared a defective ATP1A3
gene, which is responsible for pumping sodium and potassium ions across the cell membrane.