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  Dennis Lal’s genomics lab predict (unpublished, in review) 2.6 (CI:2.3-2.8) new SLC6A1 patients in 100,000 births, which translates to an incidence of about 1 in 38,000 births.


SLC6A1 is the 10th most prevalent gene in autism: Click Here

SLC6A1 is the 6th most prevalent gene in epilepsy:  Click Here

Dr. Ingo Helbig at Children’s Hospital of Philadelphia wrote a blog explaining the condition in Beyond the Ion Channel:  Here and discussing the prevalence:  Here

Mice Articles:

Clinical Articles:

Pharmacological Papers:

Disease Mechanism:

Cell Based Screening (iPSC, High Throughput, etc)

Absence Seizure Literature: