WHAT IS GABRB2?
The GABRB2 gene is necessary to form the beta-2 subunit of GABA-A receptors. Variants in this gene can have various effects on individuals, including seizures, movement disorders, and a range of disabilities including severe global disabilities. Seizures are often resistant to medication and can begin at infancy. In some children, the numbers of seizures in a day can exceed 100. Many other challenges for these children and young adults include frequent hospitalizations, feeding tubes, sleep disorders, behavior issues, autism, lack of head or body control, and visual impairments. Some are unable to walk and are non-verbal.
HOW IT WORKS
The GABRB2 gene encodes the beta-2 subunit of a GABA-A receptor. GABA is the primary inhibitory neurotransmitter in the brain and acts at GABA receptors, counteracting the overexcitement of neurons. This gene mutation can cause the loss of function of the GABA-A receptor containing the beta-2 subunit. The beta-2 subunit is contained in more than half of all GABA-A receptors in the brain.
Liam
Julia
Helen
Eeno
Joao
Johannes
Brothers Felipe and Arthur
Elijah
Connor
Braxton
