Welcome to Scarlett's GABRA1 Village
We are a patient advocacy organization dedicated to improving the lives of children and families affected by this condition and other GABA-A mutations by raising awareness, creating a sense of community and collaborating with researchers to develop scientific treatment options.
What is GABRA1?
GABRA1 is a rare neurological condition that causes seizures, movement disorders, sleep apnea, hypotonia, global developmental delays, heart conditions, visual processing delays, and intellectual disabilities. Some are unable to walk, require 24/7 care, and many are non-verbal. Through various studies, seizures are often resistant to medication and can begin at infancy; some children exceeding over 100 per day. While many families face varying challenges on a daily basis, there is a spectrum of phenotypes ranging from mild to severe.
How It Works
Gamma-aminobutyric acid receptor subunit alpha-1
The GABRA1 gene encodes one of the most conserved and highly expressed subunits of the GABAA receptor family. GABA is the primary inhibitory neurotransmitter in the human brain and acts at GABA receptors, counteracting the overexcitement of neurons. This mutation can cause a loss of function of the GABA-A receptor containing the alpha-1 subunit.