It is really amazing that researchers are even able to identify KCNQ2 and its variants. The genetic counselor described the process to us as using Google Maps. As if we were looking at the whole earth and needing to find our house on that map. Researchers remove the DNA strand from a cell, unravel it, look at each portion, zoom in, and search for spelling errors. In Aimee's case, the error is a replacement in one location of one amino acid for another. The chromosome is 20q13.33 (this is the KCNQ2 gene). Her variant is coded at location c.602 G>A and the swap is Arginine to Histidine (Protein name Arg201His). This is called a missense mutation. All of this from swapping in the wrong amino acid in one little tiny spot. Dr Dobyns shook his head as he said that this particular swap out was particularly incompatible.
There are numerous other possible errors that happen in the gene, each causing a different variant. From what I can tell so far, there are least 150 different variants currently registered. Because there are so many and because this gene is newly discovered, there is not sufficient data to determine how each variant influences outcome.
I am in the process of filling out paperwork to have Aimee participate in the RIKEE Project (Rational Intervention for KCNQ2/3 Epileptic Encephalopathy). There is hope that with more data effective therapies will be developed based on underlying causes.
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