SLC6A1 is a recently discovered pathogenic mutation and is only on 13% of panel testing, so the condition is very under-diagnosed.Dennis Lal’s genomics lab predict (unpublished, in review) 2.6 (CI:2.3-2.8) new SLC6A1 patients in 100,000 births, which translates to an incidence of about 1 in 38,000 births. In addition:
- SLC6A1 is the 10th most prevalent gene in autism: Click Here
- SLC6A1 is the 6th most prevalent gene in epilepsy: Click Here
Article: A Missense SLC6A1 Mutation Associated with LGS
We have a ROBUST mouse model!!! SLC6A1 knockout mice are AVAILABLE via Jackson Laboratories and begin having noticeable tremors on Day 19!