GABA-A
What Is GABA-A?
GABA-A is a type of receptor in the brain that plays a vital role in calming down brain activity. It responds to GABA (gamma-aminobutyric acid), the brain’s main inhibitory neurotransmitter. When GABA binds to the GABA-A receptor, it quickly sends a signal that tells brain cells to slow down, helping to regulate mood, prevent overstimulation, and support balanced brain function.
GABA-A receptors are complex proteins made up of several subunits, and these subunits are encoded by a family of genes, including:
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GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6 (alpha subunits)
GABRB1, GABRB2, GABRB3 (beta subunits)
GABRG1, GABRG2, GABRG3 (gamma subunits)
GABRD (delta subunit)
GABRE (epsilon subunit)
GABRQ (theta subunit)
GABRP (pi subunit)
GABRR1, GABRR2, GABRR3 (rho subunits, sometimes grouped as GABA-C receptors)
Each individual has a unique combination of these subunits that shape how their GABA-A Receptors work.
Why GABA-A Matters
GABA-A receptors are essential for:
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Preventing seizures
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Regulating anxiety and sleep
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Supporting learning and memory
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Maintaining overall brain balance
When GABA-A function is disrupted due to a genetic variant, injury, or environmental trigger it can lead to an overexcited brain, which may result in seizures, behavioral challenges, or developmental delays.
GABA-A Genes and Disorders
Variants in GABA-A receptor genes can affect how the brain processes inhibitory signals, leading to neurological and psychiatric symptoms. These can include:
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Epileptic encephalopathies
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Developmental delays
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Autism spectrum disorder (ASD)
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Intellectual disability
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Anxiety or mood instability
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Motor disorders
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Hypotonia (low muscle tone)
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Abnormal EEG patterns
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Behavioral concerns such as ADHD, aggression, or sensory dysregulation
Each subtype of GABA-A gene (like GABRA1 or GABRB3) may carry its own pattern of symptoms, but all are part of a broader network of inhibitory signaling that keeps the brain in balance.
Our Mission at CURE GABA-A
CURE GABA-A was founded with the goal of accelerating research and hope for families impacted by GABA-A Receptor variants. We work to connect world-class researchers with affected families to help accelerate:
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Advance gene discovery and disease modeling
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Support clinical trial readiness
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Fund innovative therapeutic approaches
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Build a strong, unified community
What’s Next?
Understanding GABA-A is the cornerstone of understanding how the brain stays calm and coordinated. Our work drives the development of new treatments from precision therapies targeting specific subunits, to broader interventions that support inhibitory balance.
We are committed to:
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Raising awareness about GABA-A related disorders
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Expanding our biorepository and database to support research
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Organizing patients and clinicians for future trials
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Supporting every family on this journey, every step of the way
Have a GABA-A gene diagnosis?
We’re here for you. Whether it’s GABRA1, GABRG2, GABRB3, or another subunit, we’re building bridges between science, treatment, and community.
GABA-B
What Is GABA-B?
GABA-B refers to a type of receptor in the brain that plays a critical role in calming down neural activity. It works by responding to a chemical messenger called GABA (short for gamma-aminobutyric acid) which is the brain’s main inhibitory neurotransmitter. While GABA-A receptors act quickly like an “off switch,” GABA-B receptors work more slowly and steadily, helping to fine-tune brain signals over time.
Unlike GABA-A receptors, which are made of multiple subunits, GABA-B receptors are built from just two genes:
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GABBR1 – produces the GABA-B1 protein
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GABBR2 – produces the GABA-B2 protein
These two proteins must join together to create a functional GABA-B receptor.
GABA-B1 binds the GABA molecule, while GABA-B2 transmits the signal inside the cell. Without both, the receptor cannot function.
Why GABA-B Matters
GABA-B receptors help regulate:
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Muscle tone
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Memory and learning
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Pain perception
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Mood and anxiety
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Sleep cycles
They are active in areas of the brain involved in movement, cognition, behavior, and emotional regulation. Disruption of GABA-B signaling can throw off the brain’s balance, contributing to a wide range of neurological and psychiatric symptoms.
GABA-B Genes and Disorders
Variants or dysfunctions in GABBR1 and GABBR2 have been associated with a growing list of conditions, including:
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Epilepsy
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Autism spectrum disorder (ASD)
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Global developmental delay
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Intellectual disability
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Schizophrenia
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Anxiety and depression
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Spasticity or abnormal muscle tone
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Sleep disturbances
Researchers are still uncovering the full impact of GABA-B dysfunction. Because the GABA system is so central to brain communication, even subtle imbalances can have widespread effects.
Our Mission at CURE GABA-A
At CURE GABA-A, we are now expanding our mission to include GABA-B receptor disorders. While our foundation began with a focus on GABA-A Receptor (GABAAR) variants, we recognize the critical overlap and shared therapeutic potential between GABA-A and GABA-B systems.
We are building partnerships with scientists studying GABBR1 and GABBR2, supporting families affected by these variants, and working to identify promising treatments, from small molecules to one day gene-targeted therapies.
What’s Next?
Understanding GABA-B is essential to unlocking better care and future cures for many rare and complex neurological conditions. We are committed to driving this work forward by:
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Funding research into GABA-B biology and therapeutics
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Connecting families with genetic answers and support
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Advocating for inclusion of GABA-B conditions in broader epilepsy and neurodevelopmental studies
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Educating the community on the role of inhibitory signaling in the brain
Have a GABBR1 or GABBR2 diagnosis?
We’d love to hear from you. Whether you’re a parent, researcher, or clinician, your voice matters.
Our vision
Our vision is a future where individuals living with GABA-A & B Variants experience improved quality of life and have access to personalized treatments. We envision a world where repurposed FDA-approved drugs and gene therapies offer hope and relief to patients, effectively managing symptoms and addressing the underlying genetic causes of GABA-A & B Variants.
Advancing Scientific Research:
By supporting cutting-edge research initiatives, we aim to expand our understanding of GABA A variants and identify new therapeutic opportunities. Read More
Repurposing FDA Approved Drugs:
Our organization focuses on harnessing the potential of existing FDA approved drugs to repurpose them for GABA A variants. Read More
Developing Gene Therapies:
Our goal is to be at the forefront of researching different gene therapy options for GABA-A Variants. Read More
Promoting Awareness & Advocacy:
We are committed to raising public awareness about GABA A variants and their impact on individuals and families. Read More
Empowering Patients & Families:
We strive to be a trusted resource for patients and their families, providing information on current and future clinical trials. Read More
OUR CHILDREN
Welcome
Welcome to the CURE GABA-A Variants Community
We are sorry to meet this way but we welcome you with open arms to the GABAAR Variants Cure Community. Our shared purpose is to find a cure for GABAAR Variants, driven by the unwavering love we have for our children. We believe in pursuing different strategies rooted in genetics, aiming to tackle the core of GABAAR Variants from every possible angle.
As a nonprofit organization exclusively dedicated to cure GABA-A Variants, we have developed a comprehensive plan. With a team boasting extensive experience in drug development and business, we ensure our efforts are strategic and effective. We are proud to say that CURE GABA-A Variants is currently funding research and we plan to continue to fund research until we meet our ultimate goal of finding a cure.
We invite you to join the CURE GABA-A community and become an integral part of our progress. Together, we can make a difference.
With warm regards,
The GABA-A Variants Family
Cure GABA-A Variants is a 501(c)3 tax-exempt organization and your donation is tax-deductible within the guidelines of U.S. law. To claim a donation as a deduction on your U.S. taxes, please keep your email donation receipt as your official record. We’ll send it to you upon successful completion of your donation.