People with changes related to SLC6A1 may have different types of epilepsy. These include myoclonic-atonic epilepsy (MAE), also known as Doose syndrome.
Myoclonic-atonic epilepsy combines two types of seizures: myoclonic seizures, which can cause brief muscle jerks, and atonic seizures, related to a sudden loss of muscle tone. How it presents can vary from one person to another.
The relationship between SLC6A1 and the different types of epilepsy is part of a body of knowledge that is still growing. That is why it is important to keep a broad view of epilepsy diagnoses and to bear in mind that the same genetic change may be associated with different features.
At SLC6A1-Spain we keep working to raise awareness of these realities and bring accessible information to families. Recognising the possible links between a gene and certain types of epilepsy can support a more informed conversation between families and the teams caring for each person.
Every story is unique. Research continues to help us better understand the role of SLC6A1 and move towards more precise knowledge of its effects.
