SCN1A Test

We received the results of Nora’s SCN1A (neural sodium channel gene) test today.  It is negative.  Meaning she does not have that gene mutation.

This is not really good or bad news, just a piece of information.  The SCN1A gene is typically associated with a group of epilepsies that have some similarity to Nora’s.  (A technical discussion can be found here.)  It could be that Nora does in fact have a mutation to do with that gene, but not something the tests can yet recognize.  She could also have a mutation on a different gene, such as SCN2A or others.

To put it in good news / bad news terms:  the bad news is that we still don’t know why Nora is having seizures, and what if any genetic component is responsible.  If she did have the SCN1A mutation, then at least the doctors would have cases to compare her with and an idea of best treatments.  On the other hand, it’s good to know she does not have the SCN1A mutation, because some of the resulting epilepsies are quite debilitating.

So both of the genetic tests (the previous micro array test, and this SCN1A test) are negative for Nora.  That is good.  But we still don’t know why she has epilepsy.  We may never know.  For now, our best path forward is to continue the diet.

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