About SLC6A1-Related Disorders
SLC6A1-related disorders are emerging as a common cause of developmental and epileptic encephalopathies, since initial descriptions in 2015. The SLC6A1 gene is located on chromosome 3 and contains 15 exons. The gene is expressed in the mammalian central nervous system, predominantly in the adult frontal cortex. Unlike other GABA transporters, GAT1 is almost exclusively expressed in GABAergic axon terminals but can also be present in astrocytes, oligodendrocytes, and microglia. Disruption of SLC6A1 is a prominent cause of neurodevelopmental disorders, including autism spectrum disorder (ASD), intellectual disability (ID), and seizures of varying types and severity. In the current three largest genomic screens of individuals with epilepsy, SLC6A1 was listed among the top ten to twenty genes with the highest number of pathogenic variants.
SLC6A1 Clinical Features
Kids with SLC6A1 live with developmental delays and disabilities, speech delays, seizures, autism like behavior and severe anxiety.
Get to Know SLC6A1 Connect
SLC6A1 Connect is parent driven foundation with the sole purpose of raising awareness and fundraising to advance scientific research that will ultimately result in a cure..
I am especially proud of ...
I am especially proud that we have advanced numerous translational research approaches in a span of 18 months. We are mothers working to help our children with zero overhead.
Excited to REN because...
I believe REN will help our constituents by forming a cohesive group of patient organizations to advance lifesaving therapeutics.
My journey and motivation...
Receiving this diagnosis was incredibly devastating to our family. We knew something was wrong but never imaged learning our son had a disease so rare it didn’t even have a name or treatment options. I am passionate and dedicated to doing everything I can to change that and to improve his quality of life. My vision and goal for SLC6A1 Connect is to cure the disease, not continue to treat and live with it.
By Kimberly Fry, Vice President of SLC6A1 Connect