SLC6A1 is a recently discovered pathogenic mutation and is only on 13% of panel testing, so the condition is very under-diagnosed. Dr. Dennis Lal’s renowned genomics lab has published an incidence of 1;38,000 births.  Please refer to his study in Brain for additional details along with an excel attachment.

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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

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

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

 

Available Point Mutation Mice     

Available Knockout Mice     

Patient Fibroblasts

Mice/Animals Articles:

Clinical Articles:

Pharmacological Papers:

Disease Mechanism:

Cell Based Screening (iPSC, High Throughput, etc):

Absence Seizure Literature:

Other:

Other Helpful Links: