We received the results of Nora’s SCN1A (neural sodium channel gene) test today. \u00a0It is negative. \u00a0Meaning she does not have that gene mutation.<\/p>\n
This is not really good or bad news, just a piece of information. \u00a0The SCN1A gene is typically associated with a group of epilepsies that have some similarity to Nora’s. \u00a0(A technical discussion can be found here<\/a>.) \u00a0It could be that Nora does in fact have a mutation to do with that gene, but not something the tests can yet recognize. \u00a0She could also have a mutation on a different gene, such as SCN2A or others.<\/p>\n To put it in good news \/ bad news terms: \u00a0the bad news is that we still don’t know why Nora is having seizures, and what if any genetic component is responsible. \u00a0If she did have the SCN1A mutation, then at least the doctors would have cases to compare her with and an idea of best treatments. \u00a0On the other hand, it’s good to know she does not have the SCN1A mutation, because some of the resulting epilepsies are quite debilitating.<\/p>\n So both of the genetic tests (the previous micro array test, and this SCN1A test) are negative for Nora. \u00a0That is good. \u00a0But we still don’t know why she has epilepsy. \u00a0We may never know. \u00a0For now, our best path forward is to continue the diet.<\/p>\n","protected":false},"excerpt":{"rendered":" We received the results of Nora’s SCN1A (neural sodium channel gene) test today. \u00a0It is negative. \u00a0Meaning she does not have that gene mutation. This is not really good or bad news, just a piece of information. \u00a0The SCN1A gene … Continue reading