Defining the phenotypic spectrum of SLC6A1 mutations

Summary Objective Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1 ‐mutated patients. Methods We collected 24 SLC6A1 probands and 6 affected ... View More