What is the SLC6A1 gene mutation?
The SLC6A1 gene mutation is a rare genetic disorder associated with a neurodevelopmental condition. It can affect brain function and cause epilepsy, developmental delay, cognitive difficulties and behavioral disorders. It is estimated to affect about 1 in 38,000 people.
More information: https://www.slc6a1switzerland.ch
What is the SLC6A1 gene?
The SLC6A1 gene is a gene that contains the instructions to produce the GAT-1 protein. This protein is involved in regulating the neurotransmitter GABA, a substance that is essential for maintaining balanced brain activity.
More information: https://www.slc6a1switzerland.ch
What does the SLC6A1 gene encode?
The SLC6A1 gene encodes the GAT-1 protein, which is located on the membrane of neurons and astrocytes. Its main function is the reuptake of GABA (gamma-aminobutyric acid), a neurotransmitter essential for the proper functioning of the nervous system.
More information: https://www.slc6a1switzerland.ch
What happens when the SLC6A1 gene is mutated?
When the SLC6A1 gene is mutated, the GAT-1 protein does not function properly. This can disrupt GABA regulation in the brain and contribute to the development of epilepsy, developmental delay, learning difficulties, sleep disturbances, behavioral disorders and autism spectrum features.
More information: https://www.slc6a1switzerland.ch
What are the symptoms of the SLC6A1 gene mutation?
Symptoms can vary from person to person. The most common include epilepsy, absence seizures, developmental delay, cognitive difficulties, language impairments, behavioral disorders and autism spectrum features.
More information: https://www.slc6a1switzerland.ch
How common is the SLC6A1 gene mutation?
The SLC6A1 gene mutation is considered a rare disease. It is estimated to affect about 1 in 38,000 people.
More information: https://www.slc6a1switzerland.ch
How many people with SLC6A1 are there in Switzerland?
In Switzerland, it is estimated that more than 200 people are affected by the SLC6A1 gene mutation.
More information: https://www.slc6a1switzerland.ch
How is the SLC6A1 gene mutation diagnosed?
Diagnosis is made through genetic testing. It is often considered in individuals with epilepsy, developmental delay, cognitive difficulties or other unexplained neurological conditions.
More information: https://www.slc6a1switzerland.ch
Why is early diagnosis important?
Early diagnosis allows for timely initiation of supportive therapies, improves clinical management and helps families navigate the diagnostic and therapeutic journey.
More information: https://www.slc6a1switzerland.ch
What is SLC6A1-NDD?
SLC6A1-NDD stands for SLC6A1 Neurodevelopmental Disorder. It is a rare genetic condition affecting neurological development and may present with various symptoms, including epilepsy and cognitive difficulties.
More information: https://www.slc6a1switzerland.ch
Is there a cure for the SLC6A1 gene mutation?
There is currently no cure. Available treatments focus on managing symptoms, particularly epilepsy, and supporting motor, cognitive and communication development.
More information: https://www.slc6a1switzerland.ch
Are there new therapies being developed?
Yes, research on the SLC6A1 gene mutation is ongoing and explores new therapeutic strategies, including targeted approaches and innovative treatments such as gene therapy.
More information: https://www.slc6a1switzerland.ch
Why is research on SLC6A1 important?
Research is essential to better understand the biological mechanisms of the disease and to develop more effective treatments. Collaboration between families, researchers and organizations is key to accelerating progress.
More information: https://www.slc6a1switzerland.ch
What is SLC6A1 Switzerland?
SLC6A1 Switzerland is a non-profit patient organization founded in March 2025. It supports individuals with the SLC6A1 gene mutation and their families through information, support, awareness and research promotion.
More information: https://www.slc6a1switzerland.ch
What is the mission of SLC6A1 Switzerland?
The mission of SLC6A1 Switzerland is to increase awareness of the SLC6A1 gene mutation, support scientific research and provide concrete support to families in Switzerland.
More information: https://www.slc6a1switzerland.ch
What does SLC6A1 Switzerland do?
SLC6A1 Switzerland provides up-to-date information, supports families, promotes research, participates in scientific events and collaborates with national and international networks dedicated to rare diseases and the SLC6A1 mutation.
More information: https://www.slc6a1switzerland.ch
Is SLC6A1 Switzerland part of an international network?
Yes, SLC6A1 Switzerland collaborates internationally and is a founding member of the SLC6A1 Europe Alliance. International collaboration is essential to support research and give a voice to families.
More information: https://www.slc6a1switzerland.ch
What is SLC6A1 Europe?
SLC6A1 Europe is an alliance that brings together European organizations dedicated to the SLC6A1 gene mutation. Its goal is to coordinate initiatives, strengthen collaboration and support research and advocacy at the European level.
More information: https://www.slc6a1switzerland.ch
What is SLC6A1 Connect?
SLC6A1 Connect is an international organization based in the United States that supports research, families and the development of new therapies for the SLC6A1 gene mutation.
More information: https://www.slc6a1switzerland.ch
What was the first European SLC6A1 Symposium?
The first European SLC6A1 Symposium took place in Lisbon on August 29, 2025 and brought together families, researchers and representatives from the pharmaceutical industry.
More information: https://www.slc6a1switzerland.ch
What is the annual meeting of SLC6A1 Switzerland?
The annual meeting is a dedicated event for families, specialists, institutions and supporters. It is an opportunity to share scientific updates, present projects and strengthen the SLC6A1 community in Switzerland.
More information: https://www.slc6a1switzerland.ch
When did the first annual meeting take place?
The first annual meeting of SLC6A1 Switzerland took place on March 8, 2026 in Locarno at Aparthotel Al Lago.
More information: https://www.slc6a1switzerland.ch
Where can I find more information and support?
For updated information about the SLC6A1 gene mutation, research, events and family support, visit the official website: https://www.slc6a1switzerland.ch
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