11.22.16 Aimee and KCNQ2

Yesterday's big appointment with the Neurogenetics Reseach Doctor was full of details and answers. There is so much to share that I will spend the next several days posting different bits of information. 

The basics are as follows:

-Aimee tested positive both in the research genetics lab and clinical dna diagnostics lab for KCNQ2 gene.

-This is inherited in an autosomal dominant or heterozygous manner, though Aimee appears to have a de novo variant.

-This micro change alters the function of the potassium channel in brain cells, though how severely, and in which way, depend on which variant. 

-There are possible treatment indications and drug trials specifically targeting the potassium channel.

-KCNQ2 is quickly becoming a bigger deal. It is currently considered the major epilespy gene and is just beginning to be understood. Most of the studies and literature are from the past 2 years. Some from early 2016 list only 100 known individuals. There are over 400 and counting in more recent papers. There is a VERY broad prognosis spectrum and as many questions as answers at this time. 

The nitty gritty is still to come. I will pass on all the information about genetic factors, Aimee's particular variant, drugs, future planning, ect as I digest and as I read through the most recent studies and trials. 

Meanwhile, here is a picture of us nervously waiting for the doctor on Monday.