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.
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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.