ATP1a3 gene mutation

Hi All I’ve not been on this site for some time. It has recently been discovered that both my daughter and I have gene mutation ATP1a3, both my daughter and I have Ataxia as a result. Do any of you have this gene mutation or know anything about it? Thank-you for your help

B🙂Hi Pauline, log onto Facebook, and search for ATP1a3, there are several links, including people who have the diagnosis. You can find info online, but it’s mainly medical jargon. The most recent update I found was … ATP1a3related disorders. An update - European Journal of Paediatric Neurology. :neutral_face:But, for some reason this direct link has failed. :slightly_smiling_face: xB

Hi Beryl, Thanks for your reply. I’ll have a look on Facebook later. As you say when I google I mainly found medical jargon. On when the mutation was found in my daughter the paediatric neurologist gave us a print out from the internet with the least amount of jargon he could find. My diagnosis involved a letter from my neurologist confirming the mutation in myself and suggest this is the most likely cause for my difficulties, I’ll see him in June. Thanks again for your help.

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