8.9.16 Probably

Here is the probable scoop.

This past couple of weeks I have been in communication with the Genetics and Neurogenetics departments at Seattle Children's regarding DNA research testing done over the past 5 years for Aimee. This afternoon, I spoke with the Neurogenetics doctor that Aimee last met with in 2011.
(Click here to read the post about Aimee's previous appointment with this Neurogenetics Doctor)
(Click here to read the results of that brain MRI from 2011) Due to a clerical mistake, Aimee's DNA was entered twice for research testing. Both came back with the same results, which indicate a probable mutation, or change in the genetic code, at a well known epilepsy gene KCNQ2. The sequence change that they found in Aimee's DNA was one that had not been seen before. He said they have known about this gene, but only been researching it for a couple of years and that it takes about 10 for them to fully understand it. In particular, there is a fair amount of research for gene specific epilepsy treatments targeted to the particular protein involved.

Okay, so the bottom line is Aimee's DNA will go into a clinical lab for confirmation of this finding, but PROBABLY this is the answer. And possibly it will have treatment implications. We should have an answer from the lab in about 6 weeks time. We will meet with the Neurogenetics Doctor in November to discuss the implications of this finding in greater detail.

From what I understand so far, alterations in KCNQ2 refers specifically to an interference with potassium as is exits a cell through a pore in the cell membrane during a transmission of nerve signals. The nerve signal triggers this reaction where the channels open for sodium to come into the cell and for potassium, a positively charged ion, to go out. The interference with this reaction either stops or messes with the transmittable electrical signal. The range of delays and seizures is correlated to how much this process is dysfunctional. This epilepsy gene is particularly characterized by an onset of seizures between day 2-8 after birth, which... we couldn't say for sure if Aimee had seizures then, but looking back we may not have recognized them. As we didn't know that she had seizures until later, they did not consider this gene during earlier testing. Among other unknowns, it is unclear if the prolonged presence of seizures causes in increase in developmental delays or not.

At this point there are a lot of questions to ask and still more waiting to do. We will hopefully have more information and details to share through the coming months. Hopefully we will also have a clearer explanation regarding this gene than my phone call notes can provide. ;)