Mito disorders

I found some interesting research just published which suggests a link between Dravet syndrome and mitichondrial disorders. It was Finnish research showing a case of a Dravet child with an SCN1A mutation who also had a POLG1 mutation which is associated with mito disorders.

There are a number of children on our group who have been found to have mito disorders as well as Dravet syndrome. It is hard to say what the likely incidence is as most Dravet kids have not been tested for mito, mainly because it involves doing a muscle biopsy which is not an easy or pleasant test to have to undergo. It doesn't seem surprising that there may be an association between Dravet and mito though, as it seems unlikely that all the issues that Dravet kids are faced with are due to the SCN1A mutation.

The research suggests that Dravet patienst are tested for POLG1 mutations/deletions especially if they are on valproate because of the associaton of both POLG1 abd valproate with the liver.