This protocol covers epilepsy with myoclonic atonic seizures in a patient carrying a pathogenic variant of the SLC2A1 gene, which results in GLUT1 deficiency. Identifying this specific genetic aetiology is clinically critical: the underlying diagnosis directly determines which intervention is appropriate and how promptly it should be started.
GLUT1 deficiency, caused by a pathogenic SLC2A1 variant, is the defining feature of this sub-population. Early recognition of this genetic cause — before treatment selection — is central to achieving a favourable outcome, as it enables a targeted approach with the potential for an excellent response in both seizure control and neurodevelopment.
The first-line strategy for confirmed GLUT1 deficiency involves early initiation of a specific dietary intervention. Timing of initiation matters significantly. The full structured protocol — covering selection criteria, initiation guidance, monitoring parameters, and clinical decision points — is available via the link below.
The primary treatment target is seizure control.